Rx Blood, Metabolism, and Infectious Diseases (A - Z)Chikungunya Virus Infectious Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chikungunya virus infectious disease is an illness caused by a tiny germ called the chikungunya virus. This virus enters the human body mainly through the bite of an infected Aedes mosquito, the same ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Chikungunya Virus Disease or Disorder Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chikungunya Virus Disease or Disorder is caused by the chikungunya virus. This virus is an RNA virus in the alphavirus group of the Togaviridae family. It spreads to people through the bite of ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Hemorrhagic Fever Caused by Chapare Virus Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hemorrhagic fever caused by Chapare virus is a rare but very serious viral illness. It is caused by a virus called Chapare virus, which belongs to a group of viruses known as arenaviruses. The virus ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Chapare Hemorrhagic Fever Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chapare hemorrhagic fever is a rare but very serious viral illness caused by the Chapare virus, which belongs to the mammarenavirus group in the Arenaviridae family. The virus was first identified in ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Soft Chancre Chancroid Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Soft chancre, also called chancroid, is a sexually transmitted infection (STI) that causes very painful sores (ulcers) on the genitals or nearby skin. It is caused by a bacterium called Haemophilus ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Ducrey’s Chancre Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Ducrey’s chancre is a painful open sore on the genital area that happens because of a sexually transmitted infection called chancroid. The infection is caused by a bacteria named Haemophilus ducreyi. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Chancroidal Bubo Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chancroidal bubo means a swollen, painful group of lymph nodes in the groin that happens because of chancroid, a sexually transmitted infection caused by the bacteria Haemophilus ducreyi. The germs ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Chancroid Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chancroid is a sexually transmitted infection (STI) caused by a bacteria called Haemophilus ducreyi. It mainly affects the skin and tissues of the genital area and sometimes the nearby groin. The ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Ceroid Lipofuscinosis Neuronal, 4 (Kufs Type) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Ceroid lipofuscinosis, neuronal, 4 (Kufs type), often shortened to CLN4 disease, is a very rare inherited brain disease. It mainly affects the nervous system (the brain and spinal cord). Over time, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Arginine Vasopressin Deficiency (AVP-D) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Arginine vasopressin deficiency (AVP-D) is a condition where your body does not make enough of the hormone arginine vasopressin (also called antidiuretic hormone, ADH). This hormone normally helps ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)CEBPE-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome is a condition where a change (variant) in the CEBPE gene affects how neutrophils (a main “first-response” white ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Blastic NK-Cell Leukemia/Lymphoma Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Blastic NK-cell leukemia/lymphoma” was often used for a very aggressive blood cancer that looks like leukemia (blood and bone marrow disease) and/or lymphoma (tumor masses), and very often starts in ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Congenital Disorder of Glycosylation Type iio Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital disorder of glycosylation type IIo is a very rare genetic condition where the body has trouble doing glycosylation (adding sugar “chains” to proteins). Those sugar chains help proteins ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)CCDC 115-CDG – Coiled-Coil Domain Containing 115 Congenital Disorder of Glycosylation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. CCDC115-CDG (also called congenital disorder of glycosylation, type IIo / CDG2O) is a very rare inherited (autosomal recessive) condition where the body cannot “finish” adding and shaping sugar ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)CCDC 115 Congenital Disorder of Glycosylation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. CCDC115-CDG (also called congenital disorder of glycosylation type IIo) is a very rare inherited disease where the body has trouble doing a key “sugar-finishing” job called glycosylation. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Carbohydrate-Deficient Glycoprotein Syndrome Type IIo Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Carbohydrate-deficient glycoprotein syndrome type IIo is now usually called Congenital Disorder of Glycosylation, type IIo (CDG-IIo) or CDG2O. It is a rare inherited (genetic) disease where the body ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)CCDC115-CDG Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist CCDC115-CDG is a very rare inherited disorder where the body cannot “decorate” many proteins with sugar chains in the normal way (this process is called glycosylation). These sugar chains help ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cayman Cerebellar Ataxia Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cayman cerebellar ataxia (also called cerebellar ataxia, Cayman type) is a rare genetic (inherited) brain condition that usually starts from birth or early infancy. The main problem is that the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Tracheopulmonary Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main breathing tubes), or deeper in the air ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Intestinal Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Intestinal myiasis is a condition where fly larvae (maggots) are inside the stomach or intestines for a short time and may be passed out in stool. Most often, it happens when a person swallows fly ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Ophthalmomyiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Ophthalmomyiasis (also called ocular myiasis) means fly larvae (maggots) get into or onto the eye area. The larvae can stay on the surface (like the conjunctiva), the eyelids, or rarely go deeper ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Urogenital Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Urogenital myiasis (also called genitourinary myiasis) is a rare condition where fly larvae (immature flies) are found in or near the urinary or genital area, such as the vulva, vagina, penis, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Nasal Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Nasal myiasis is a condition where fly larvae (maggots) live and grow inside the nose or nearby sinuses. The flies lay eggs around the nostrils or in nasal wounds. When the eggs hatch, the larvae ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Aural Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Aural myiasis (also called otomyiasis) means fly larvae (maggots) are living in the ear canal, and sometimes they can reach the middle ear if the eardrum is damaged. It is a medical emergency because ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cavitary Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cavitary myiasis is a parasitic disease where fly larvae (maggots) live and grow inside natural body openings instead of on the skin surface. These openings can be the ear canal, nose, mouth, eye ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Double Tachycardia Induced by Catecholamines Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Double tachycardia induced by catecholamines is an old name for a rare heart rhythm disease now called catecholaminergic polymorphic ventricular tachycardia (CPVT). In this condition, stress hormones ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Catastrophic Antiphospholipid Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Catastrophic antiphospholipid syndrome (CAPS) is a very rare, life-threatening autoimmune blood-clotting disorder. In this condition, the immune system makes harmful antibodies called ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Debre-Mollaret Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Debre-Mollaret syndrome is an older name for cat-scratch disease, a bacterial infection of the lymph nodes after contact with an infected cat. It is caused mainly by the bacterium Bartonella ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cat-scratch fever Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cat-scratch fever, also called cat-scratch disease, is a bacterial infection that happens after a person is scratched, bitten, or licked on broken skin by a cat that carries a germ called Bartonella ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bartonellosis due to Bartonella Henselae Infection Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Bartonellosis due to Bartonella henselae is best known as the cause of “cat scratch disease.” It is an infection that usually starts after a scratch, bite, or lick from an infected cat. The germ is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cat Scratch Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cat scratch disease is a mild to sometimes serious infection that people get after a scratch, bite, or lick from a cat that carries a bacteria called Bartonella henselae. It mainly causes swollen, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Carnosinemia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Carnosinemia is a very rare inherited metabolic disease. It happens when the body does not have enough of an enzyme called carnosinase. This enzyme normally breaks down a small protein (a dipeptide) ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Carnitine-Acylcarnitine Translocase (CACT) Deficiency Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited disorder of fat breakdown (fatty-acid β-oxidation). The CACT protein sits in the inner wall of the mitochondria (the cell’s ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency is an inherited problem in the way muscles burn long-chain fats for energy. The CPT2 gene makes an enzyme (CPT II) that sits on the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency is a rare, inherited metabolic disorder that blocks the body from using certain fats (long-chain fatty acids) for energy. Normally, a protein ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Carbamoyl Phosphate Synthetase I (CPS1) Deficiency Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Carbamoyl Phosphate Synthetase I (CPS1) deficiency is a rare, inherited problem of the urea cycle. The urea cycle is the liver’s “nitrogen-cleaning” system. It turns extra nitrogen (from protein ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Aspartoacylase Deficiency (Canavan Disease) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Aspartoacylase deficiency is a rare, inherited brain disorder in which a single enzyme—called aspartoacylase (ASPA)—does not work properly. This enzyme normally breaks down a natural brain chemical ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Calciphylaxis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Calciphylaxis is a rare but very serious disease of small blood vessels in the skin and fat. Calcium builds up in the walls of tiny arterioles. The vessels become narrowed and blocked. Blood cannot ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Deficiency of Benzoylcholinesterase Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Benzoylcholinesterase (also called pseudocholinesterase or butyrylcholinesterase) is an enzyme made in the liver and released into your blood. Its job is to help break down some anesthesia drugs, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Post-Anesthetic Apnea due to Butyrylcholinesterase (BCHE) Deficiency Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Post-anesthetic apnea due to BCHE deficiency means a person has a much slower breakdown of certain anesthesia muscle-relaxing drugs—mainly succinylcholine (also called suxamethonium) and mivacurium. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Butyrylcholinesterase (Pseudocholinesterase) Deficiency Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Butyrylcholinesterase (BChE) deficiency—also called pseudocholinesterase deficiency—is a condition in which the blood enzyme that breaks down certain anesthesia drugs works poorly or is missing. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Searle’s Ulcer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Searle’s ulcer is an infection of the skin and the tissue under the skin caused by a bacterium called Mycobacterium ulcerans. It starts as a firm, painless lump or swelling and, over weeks, the skin ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Mossman Ulcer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Mossman ulcer is a slow-growing bacterial infection that starts as a painless lump, patch, or swelling under the skin. Over weeks, the skin thins and breaks down into a painless open sore (ulcer) ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Daintree Ulcer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Daintree ulcer is a skin infection that makes a painless lump or swelling that slowly turns into a deep ulcer (open sore). It is caused by a germ called Mycobacterium ulcerans. This germ lives in the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cutaneous Mycobacterium Ulcerans Infection Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cutaneous Mycobacterium ulcerans infection, also called Buruli ulcer, is a skin disease caused by a slow-growing bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bairnsdale Ulcer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bairnsdale ulcer is a skin and soft-tissue infection caused by a bacterium named Mycobacterium ulcerans. The germ makes a toxin called mycolactone that damages fat under the skin. This damage starts ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Buruli Ulcer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Buruli ulcer is a long-lasting skin infection caused by a bacterium called Mycobacterium ulcerans. The germ makes a toxin (mycolactone) that quietly destroys skin, fat, and sometimes bone. Because ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Budd–Chiari Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Budd–Chiari syndrome means the blood leaving your liver through the hepatic veins (and sometimes the nearby inferior vena cava) is blocked. The blockage is usually a blood clot (primary BCS). Less ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bubonic Plague Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bubonic plague is a severe bacterial infection caused by Yersinia pestis. It usually spreads to people through the bite of infected fleas that live on wild rodents (like rats, squirrels, prairie ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bruton Tyrosine Kinase (BTK) Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bruton tyrosine kinase (BTK) deficiency is a rare, inherited immune disorder. It mainly affects boys. The body cannot make mature B lymphocytes (B cells), the white blood cells that produce ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bruton Agammaglobulinemia Tyrosine Kinase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bruton agammaglobulinemia tyrosine kinase deficiency is a genetic condition that mainly affects boys. A change (mutation) in a gene on the X chromosome called BTK (Bruton’s tyrosine kinase) stops B ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)X-Linked Recessive Agammaglobulinemia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist X-Linked Recessive Agammaglobulinemia is a rare genetic condition that mainly affects boys and stops the body from making antibodies. Antibodies are proteins that help you fight germs. In XLA, a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bruton-Type Agammaglobulinemia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bruton-type agammaglobulinemia is a genetic immune system disease in which the body cannot make mature B-cells and, therefore, makes almost no antibodies (immunoglobulins). This happens because ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Monoamine Oxidase A Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Monoamine oxidase A deficiency is a very rare genetic condition that mostly affects boys and men. People with this condition have lower activity of an enzyme called monoamine oxidase A (MAO-A). This ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Undulant Fever (Human Brucellosis) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Undulant fever—also called brucellosis or Malta fever—is a bacterial infection you can get from contact with infected animals or from eating or drinking unpasteurized milk, cheese, or undercooked ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Maltese Fever Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Maltese fever is an infection in humans caused by Brucella bacteria. These germs live mainly in animals such as goats, sheep, cows, pigs, and dogs. People get infected when they drink raw ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Brucellosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brucellosis is an infection you get from Brucella bacteria. People are usually infected by unpasteurized milk or dairy, or by touching infected animals or animal fluids without protection. It can ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Sabia Hemorrhagic Fever (Sabiá Virus Disease) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Sabiá hemorrhagic fever is a rare but severe viral illness caused by the Sabiá virus, a New World mammarenavirus (family Arenaviridae). It can lead to high fever, bleeding problems, low platelets, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Brain Monoamine Vesicular Transport Disease (VMAT2 Deficiency) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brain monoamine vesicular transport disease is the rare genetic condition also called brain dopamine–serotonin vesicular transport disease, VMAT2 deficiency, or PKDYS2, caused by biallelic pathogenic ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Brain Dopamine-Serotonin Vesicular Transport Disease Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brain dopamine-serotonin vesicular transport disease is a very rare genetic condition where a tiny “transport pump” in brain cells—called VMAT2—does not work well. VMAT2 normally packs dopamine and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Lame Sickness Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Lame Sickness is a rare but dangerous illness. It happens when a nerve poison (toxin) made by Clostridium botulinum blocks signals from nerves to muscles. Muscles then become weak and floppy. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Infection Caused by Clostridium Botulinum Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Botulism is a rare but very serious illness caused by a nerve poison (botulinum neurotoxin) made by the bacterium Clostridium botulinum. The toxin blocks nerve signals to muscles. That makes muscles ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Botulism Poisoning Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Botulism is a rare but very serious kind of food-, wound-, or gut-related poisoning. It happens when a nerve poison (called botulinum toxin) gets into your body. This poison is made by bacteria named ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Botulism Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Botulism is a rare but very serious poisoning of the nerves. It happens when a powerful toxin (poison) made by Clostridium botulinum and a few related bacteria gets into the body. The toxin blocks ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency (PLOD3-Related Disorder) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Connective tissue disorder due to lysyl hydroxylase-3 deficiency (PLOD3-related disorder) is a rare genetic disease that affects the body’s collagen—the “scaffolding” protein that gives strength and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Machupo Hemorrhagic Fever Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Machupo hemorrhagic fever is a severe viral illness that affects the whole body. The virus is called Machupo virus, an arenavirus. People usually get infected after breathing in tiny particles from ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bolivian Hemorrhagic Fever (BHF) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bolivian hemorrhagic fever is a severe viral illness that happens in parts of Bolivia. The virus that causes it is called Machupo virus. This virus belongs to the arenavirus family, the same broad ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Body Skin Hyperlaxity due to Vitamin K-Dependent Coagulation Factor Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare inherited skin and blood-clotting disorder. The skin over the trunk and limbs becomes very loose and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Congenital Telangiectatic Erythema Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Congenital telangiectatic erythema is an inherited disorder that starts at birth and involves the skin, growth, the immune system, the endocrine system, and cancer risk. The hallmark is a red, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bloom Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable than usual. DNA is the instruction code in every cell. In Bloom syndrome, a gene called BLM does not work ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bleeding Diathesis due to Thromboxane Synthesis Deficiency. Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It happens when platelets do not make enough thromboxane A₂ (TXA₂), or cannot use TXA₂ the right way. ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Granulomatosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Granulomatosis means “a body condition where many granulomas form.”A granuloma is a small, tight cluster of immune cells that the body builds when it cannot easily clear something—like a germ, a tiny ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)KCNK9 (Potassium Two-Pore Domain Channel, Subfamily K, Member 9) Imprinting Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a very rare genetic condition present from birth. It happens when the working (maternally expressed) copy of ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description doctors use when a child (or adult) has (1) intellectual disability or global developmental delay (learning ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Birk-Barel Type Intellectual Disability Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental condition caused by changes (variants) in a gene called KCNK9. The KCNK9 gene normally helps brain cells control ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Birk-Barel Intellectual Disability Dysmorphism Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. It mainly affects the brain and the muscles. Babies are born with weak muscle tone (called hypotonia). They ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Microcephalic Primordial Dwarfism, Montreal Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Microcephalic primordial dwarfism, Montreal type is an extremely rare genetic condition. Children have very short height that affects the whole body (proportionate short stature) and a small head ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Bird-Headed Dwarfism, Montreal Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bird-headed dwarfism, Montreal type is an extremely rare, multi-system genetic disorder first described in Montreal in 1970. It causes very short stature (dwarfism) that becomes obvious after birth, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)late-Onset Multiple Carboxylase Deficiency (MCD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Late-onset multiple carboxylase deficiency is a rare, inherited problem of biotin (vitamin B7) use and recycling. Biotin is a helper for several enzymes called carboxylases. These enzymes are needed ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Juvenile-Onset Multiple Carboxylase Deficiency (MCD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Juvenile-onset multiple carboxylase deficiency (MCD) is an umbrella term for problems in the body’s biotin system. Biotin is a vitamin (vitamin B7) that helps important enzymes, called carboxylases, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Biotinidase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Biotinidase deficiency is a genetic condition that stops the body from recycling biotin, a B-vitamin that enzymes need to turn food into energy and to make fats and other important molecules. In ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Thiamine-Responsive Encephalopathy Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Thiamine-responsive encephalopathy is a brain disorder where a shortage of usable thiamine inside brain cells causes swelling and injury in key deep brain areas (especially the basal ganglia). In the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Thiamine Transporter-2 Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Thiamine transporter-2 deficiency is a rare, inherited brain-energy disorder. It happens when a person inherits harmful changes (variants) in a gene called SLC19A3. This gene makes a protein ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Biotin- or Thiamine-Responsive Encephalopathy Type 2 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Biotin- or Thiamine-Responsive Encephalopathy Type 2 (THMD2) is a rare, inherited brain energy problem. It happens because cells—especially in deep movement-control areas of the brain called the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2) is a rare, inherited brain energy problem. Your nerve cells need vitamin B1 (thiamine) to make energy. In TMDS2, a broken thiamine “doorway” (a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Basal Ganglia Degeneration with Calcification Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist “Basal ganglia degeneration with calcification” means that tiny, rock-like calcium deposits build up inside deep brain areas called the basal ganglia. Over time, these deposits can disturb the normal ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Basal Ganglia Calcification Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Basal ganglia calcification means tiny to large deposits of calcium salts inside deep brain areas called the basal ganglia (especially the globus pallidus, putamen, and caudate). These deposits can ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Hypogonadism-Short Stature-Coloboma-Preaxial Polydactyly Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome is a very rare, inherited condition reported only in a small number of people. It affects several body systems at once. The main ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Tetrahydrobiopterin-Deficient Hyperphenylalaninemia Due to PTS Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Tetrahydrobiopterin-deficient hyperphenylalaninemia due to PTS deficiency is a rare, inherited condition where the body cannot make enough tetrahydrobiopterin (BH4). BH4 is a helper molecule (a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency is a rare genetic problem where the body cannot make enough tetrahydrobiopterin (BH₄), a helper molecule needed to ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)BH4-Deficient Hyperphenylalaninemia Type A Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist bh4-deficient hyperphenylalaninemia type a happens when the body cannot make enough tetrahydrobiopterin (BH₄). BH₄ is a natural helper molecule (cofactor) that three brain and liver enzymes need to ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is a rare, inherited metabolic disorder. It belongs to a small group of conditions called tetrahydrobiopterin (BH4) deficiencies. BH4 is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)BH4-Deficient Hyperphenylalaninemia A Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist BH4-deficient hyperphenylalaninemia A is a rare inherited condition in which the body cannot make enough of a helper molecule called tetrahydrobiopterin (BH4). BH4 is essential for the enzyme that ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta-Alanine Synthase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta-alanine synthase deficiency is a very rare, inherited problem with breaking down the DNA/RNA building blocks called pyrimidines. Because one step in this pathway is weak, two “half-broken” ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta-Ureidopropionase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta-ureidopropionase deficiency is a very rare, inherited disorder of pyrimidine breakdown (the pathway the body uses to clear the building blocks of DNA and RNA, uracil and thymine). The problem ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Thrombocytopenia with X-Linked Recessive Beta-Thalassemia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Thrombocytopenia with X-linked recessive beta-thalassemia is a rare, inherited blood disorder that affects two blood cell lines at the same time: platelets (which help stop bleeding) and red blood ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta-Thalassemia–X-linked Thrombocytopenia Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta-thalassemia–X-linked thrombocytopenia syndrome is a rare, inherited blood disorder that mainly affects boys and men. It happens when a gene on the X chromosome called GATA1 does not work ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Peroxisomal Thiolase Deficiency (T2 Deficiency) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Peroxisomal thiolase deficiency (historical label) was used for a suspected single-enzyme defect of the peroxisome pathway (enzyme: peroxisomal 3-ketoacyl-CoA thiolase, gene ACAA1). Later work ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Mitochondrial acetoacetyl-coenzyme A thiolase deficiency is a rare, inherited problem with body chemistry. The body cannot properly break down the amino acid isoleucine, and it also struggles to use ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Mitochondrial 2-Methylacetoacetyl-CoA Thiolase (ACAT1) Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Mitochondrial 2-methylacetoacetyl-CoA thiolase (ACAT1) deficiency—also called beta-ketothiolase (BKT) deficiency and sometimes described in older literature as showing “potassium-stimulated” ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Deficiency of Acetyl-Coenzyme A Acetyltransferase Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Deficiency of acetyl-coenzyme A acetyltransferase is a rare, inherited metabolic disorder. It happens when a specific enzyme inside the mitochondria does not work well. The enzyme is called ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Deficiency of Acetoacetyl-CoA Thiolase (ACAT1 Deficiency / Beta-Ketothiolase Deficiency) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist ACAT1 deficiency is a rare, inherited condition where the body cannot properly use the enzyme acetoacetyl-CoA thiolase. This enzyme helps the body break down the amino acid isoleucine and also helps ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Alpha-Methylacetoacetic Aciduria Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA thiolase (also called beta-ketothiolase or ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Alpha-Methyl-Acetoacetyl-CoA Thiolase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Alpha-methyl-acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disorder. It is also called beta-ketothiolase (BKT) deficiency or ACAT1 deficiency. In this condition, a mitochondrial ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Alpha-Methylacetoacetic Aciduria Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Alpha-methylacetoacetic aciduria is a rare, inherited metabolic disorder. The body cannot use a key enzyme (called mitochondrial acetoacetyl-CoA thiolase, also called beta-ketothiolase or ACAT1). ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)3-Methyl-3-Hydroxybutyric Acidemia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 3-methyl-3-hydroxybutyric acidemia (the condition most newborn-screening programs and medical references call 2-methyl-3-hydroxybutyric acidemia, or HSD10 disease / MHBD deficiency). It’s a very ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)2-Methyl-3-Hydroxybutyricacidemia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist 2-methyl-3-hydroxybutyricacidemia is a rare inherited metabolic disease. Your body cannot properly break down the amino acid isoleucine and cannot use ketone bodies well. Ketone bodies are emergency ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta-Ketothiolase Deficiency Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta-ketothiolase deficiency is a rare, inherited metabolic disease. It happens when a mitochondrial enzyme called acetoacetyl-CoA thiolase (also known as beta-ketothiolase, T2, or the ACAT1 enzyme) ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Mannosidosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Mannosidosis is a rare, inherited lysosomal storage disease. In healthy cells, lysosomes are the recycling centers that break down used-up molecules. In mannosidosis, a key lysosomal enzyme is ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta-D-Mannosidosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta-D-mannosidosis is a very rare inherited disease. It happens when a person is born with changes (variants) in a gene called MANBA. This gene makes an enzyme named beta-mannosidase. The enzyme ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Cooley’s Anemia (β-Thalassemia Major) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cooley’s anemia is a genetic blood disease. It happens when the body cannot make enough beta-globin, a key building block of hemoglobin (the protein in red blood cells that carries oxygen). Because ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)Beta Thalassemia Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Beta Thalassemia Syndrome is a group of inherited blood conditions where the body cannot make enough beta-globin, an essential protein chain that helps form hemoglobin (the oxygen-carrying protein ...