Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC)—also known as Andermann syndrome or ACCPN is a rare, inherited nerve ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
“Corpus callosum agenesis–neuronopathy syndrome” describes a condition where a person is born with a missing or very under-developed corpus callosum (the thick ...
Charlevoix disease is a rare, inherited brain and nerve disorder. It begins most often in childhood. The problem starts in the part of the brain that controls ...
Andermann syndrome is a rare genetic condition that affects both the brain and the nerves in the body. The main brain change is that the corpus callosum, the ...
Agenesis of the corpus callosum with peripheral neuropathy is a rare, inherited brain-and-nerve condition. “Agenesis of the corpus callosum” means the big band ...
Disorder of glycine amidinotransferase (AGAT) activity is a rare, inherited condition where the body cannot make enough creatine, a small energy-carrying ...
Creatine deficiency syndrome is a group of rare, inherited brain energy disorders. In these conditions, the brain cannot make, move, or bring in enough ...
Cerebral Creatine Deficiency Syndromes are rare, inherited brain energy disorders in which the brain cannot make, convert, or transport enough creatine into ...
AGAT deficiency is a very rare inherited disease that blocks the first step of the body’s creatine-making pathway. The AGAT enzyme (made by the GATM gene) ...
AGAT deficiency (also called arginine:glycine amidinotransferase deficiency or GATM-related cerebral creatine deficiency). This is a very rare, inherited ...
Bantu siderosis is an iron overload disease seen mostly in parts of sub-Saharan Africa. The body slowly takes in too much iron over many years. Most of the ...
African iron overload is a condition in which too much iron slowly builds up in the body, especially in people from parts of sub-Saharan Africa and their ...
Nocardiosis is an infection caused by Nocardia bacteria. These are thin, branching, gram-positive bacteria that live in soil, dust, and water. They are ...
Species in the genus Actinomyces are classically anaerobic or microaerophilic—they prefer little or no oxygen—and cause actinomycosis. By contrast, the ...
Advanced Sleep-Wake Phase Disorder is a body-clock (circadian) condition. In this disorder, the person’s internal clock runs earlier than normal. Because of ...
Advanced Sleep Phase Syndrome (also called Advanced Sleep-Wake Phase Disorder) is a body-clock problem where your internal day runs earlier than most people. ...
Wissler–Fanconi syndrome is a very rare inflammatory illness that looks like sepsis at first glance: people develop high, swinging fevers, a repeating rash, ...
Adult-onset Still disease is a rare inflammatory disease of the whole body. It usually starts in young or middle adulthood. The immune system becomes ...
Finkel disease is another name for Finkel-type spinal muscular atrophy (SMAFK). It is a rare, inherited motor-neuron disorder that usually begins in adulthood ...
Autosomal dominant late-onset spinal muscular atrophy (AD-LO-SMA) is a group of rare genetic disorders in which the lower motor neurons in the spinal cord ...
Autosomal dominant adult-onset proximal spinal muscular atrophy is a rare inherited nerve-muscle disorder. It mainly affects the motor neurons in the spinal ...
Adult-onset proximal spinal muscular atrophy (often called SMA type 4) is a rare, inherited nerve-muscle disease. It harms the lower motor neurons. These are ...
Adult-onset nemaline myopathy is a rare muscle disease that starts in adult life and slowly or quickly weakens the muscles close to the center of the body, ...
Adult-onset vitelliform macular dystrophy (AOVMD) is a slow, usually mild, retinal condition that appears in adults, most often between ages 30 and 60. It ...
Adult-onset foveomacular vitelliform dystrophy (AOFVD)—also called adult-onset vitelliform macular dystrophy (AVMD) or adult vitelliform maculopathy—is a rare ...
Adult-onset foveomacular dystrophy is a macular condition that usually starts in adults. It causes a round, slightly raised, yellow “egg-yolk–like” spot in the ...
Adult-onset foveomacular vitelliform dystrophy is a rare, usually slow-moving eye condition that starts in adulthood (often in your 40s–60s). It affects the ...
Adult-onset distal myopathy due to VCP mutation is a rare, inherited muscle disease. It usually starts in mid-life. The first signs are weakness and thinning ...
Adult-onset chronic progressive external ophthalmoplegia is a mitochondrial muscle disease. It mainly affects the muscles that move the eyes and lift the ...
Autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease is a rare, inherited, adult-onset white-matter disease of the brain and spinal cord caused ...
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, slowly progressive disease of the brain and spinal cord white matter. “White matter” contains ...
Adult‑onset autosomal dominant demyelinating leukodystrophy, often shortened to ADLD, is a rare brain and spinal cord disease that usually starts in adult life ...
Pigment anomaly-ectrodactyly-hypodontia syndrome describes a heritable condition that affects structures made from the body’s outer layer (ectoderm)—skin, ...
ADULT syndrome is a rare genetic condition that affects parts of the body that come from the ectoderm (skin, hair, nails, teeth, tear ducts) and the limbs ...
Phytanoyl-CoA hydroxylase deficiency is a rare inherited disease. Your body cannot break down a special fat called phytanic acid. This fat comes mostly from ...
Phytanic acid oxidase deficiency is a rare inherited disorder in which your body cannot properly break down a special fat called phytanic acid. This fat comes ...
Heredopathia atactica polyneuritiformis is a rare genetic disease in which the body cannot properly break down a dietary fat called phytanic acid. Because of a ...
Hereditary Motor and Sensory Neuropathy type 4 (CMT4) is a group of rare, inherited nerve disorders. It mainly damages the peripheral nerves, which are the ...
Classic Refsum disease is a rare, inherited (autosomal recessive) disorder where the body cannot properly break down a special fat called phytanic acid. In ...
Adult Refsum Disease (ARD) is a rare, inherited metabolic disorder where the body cannot properly break down phytanic acid, a branched-chain fat found in ...
Adult pure red cell aplasia (PRCA) is a rare blood disorder in which the bone marrow suddenly stops making red blood cell precursors, while production of white ...
Adult Polyglucosan Body Disease is a rare genetic disease that mainly harms the nervous system in adults. It happens when a body enzyme called ...
Kufs disease is a rare, inherited brain disorder that starts in the teen years to late adulthood. Waste materials called ceroid lipofuscin build up inside ...
Adult neuronal ceroid lipofuscinosis is a rare, inherited brain disease. In this condition, nerve cells cannot clear certain waste materials normally. The ...
Adult primary hepatocellular carcinoma (HCC) is a cancer that starts in the main cells of the liver called hepatocytes. It is “primary” because it begins in ...
Primary carcinoma of liver cell means a cancer that starts inside liver cells. Doctors call it hepatocellular carcinoma (HCC). It does not spread from another ...
Hepatoma—now more correctly called hepatocellular carcinoma (HCC)—is a primary liver cancer. That means it starts in liver cells (hepatocytes), not somewhere ...
Adult hepatocellular carcinoma (HCC) is a primary liver cancer that starts from the main liver cells called hepatocytes. It most often grows in a liver that ...
Nephronophthisis is an inherited kidney disease where the tiny tubules (pipes) inside the kidney slowly scar and form small cysts near the border between the ...
Spastic quadriparesis syndrome means weakness in all four limbs with increased muscle tone (stiff, tight muscles) because the upper motor neuron (UMN) system ...
Adult familial nephronophthisis–spastic quadriparesia syndrome is a rare inherited condition that affects both the kidneys and the nervous system. ...
Adrenomyodystrophy (better called X-linked adrenoleukodystrophy, adult form—adrenomyeloneuropathy) is a genetic disease passed on the X chromosome. A change in ...
Sudanophilic cerebral sclerosis is a rare, severe demyelinating disease of the brain’s white matter. “Demyelinating” means the fatty insulation (myelin) around ...
Siemerling–Creutzfeldt disease is an older name for X-linked adrenoleukodystrophy (X-ALD). It is a genetic disease. A change (mutation) in the ABCD1 gene makes ...
Encephalitis periaxialis concentrica is a rare inflammatory disease of the brain. It damages the insulation of nerve fibers, called myelin. Doctors also call ...
Myelinoclastic diffuse sclerosis (MDS) is a very rare inflammatory disease of the brain in which the immune system strips away myelin—the protective coating ...
Diffuse cerebral sclerosis of Schilder is a very rare demyelinating disease of the brain. “Demyelinating” means the immune system attacks the myelin coating ...
Bronze-Schilder disease is an older name for X-linked adrenoleukodystrophy (ALD), a genetic disorder caused by harmful changes in the ABCD1 gene. This gene ...
Adrenomyeloneuropathy is a long-term nerve and spinal cord disease. It is an adult form of X-linked adrenoleukodystrophy (X-ALD). A change (mutation) in the ...
X-linked recessive adrenomyeloneuropathy (AMN) is a lifelong, inherited nerve and adrenal gland disorder that mostly affects people who have one X chromosome ...
Adrenoleukodystrophy (often shortened to ALD) is an inherited condition that mainly affects the brain, spinal cord, adrenal glands, and sometimes the testes. ...
A malignant neoplasm of the adrenal medulla is a cancer that starts in the chromaffin cells of the adrenal medulla, the inner part of the small adrenal glands ...
A malignant adrenal medulla tumor is a cancer that starts in the inner part of the adrenal gland (the medulla), which is made of “chromaffin” cells. These ...
A malignant adrenal medulla neoplasm is a cancer that starts in the inner part of the adrenal gland, called the medulla. This inner part makes ...
Adrenal medulla cancer means a harmful (malignant) tumor that starts in the inner part of the adrenal gland, called the medulla. This inner zone is made of ...
A malignant tumor of the adrenal gland is a cancer that begins in one of the two small glands that sit on top of the kidneys. Each adrenal gland has two parts. ...
A malignant neoplasm of the adrenal gland means cancer that starts in one of the two small glands sitting on top of your kidneys. Each adrenal gland has two ...
A malignant adrenal neoplasm is a cancer that starts in one of the two adrenal glands that sit on top of the kidneys. The adrenal gland has two main parts: the ...
A malignant adrenal gland tumor is a cancer that starts in one of the two small adrenal glands that sit above the kidneys. The adrenal cortex (the outer layer) ...
A malignant adrenal gland neoplasm is a cancer that starts in one of the two small glands that sit on top of the kidneys. Each adrenal gland has two parts. The ...
Adrenal gland cancer means a harmful tumor starts in one or both adrenal glands. These glands sit above the kidneys. They make hormones that control stress, ...
Renal cortical cell carcinoma is a cancer that starts in the outer part of the kidney, called the renal cortex. Most kidney cancers in adults begin here. The ...
Carcinoma of the adrenal cortex—often shortened to adrenocortical carcinoma (ACC)—is a rare, aggressive cancer that starts in the outer layer (cortex) of the ...
Adrenal cortical carcinoma (ACC) is a rare, aggressive cancer that starts in the outer layer (cortex) of an adrenal gland. You have two adrenal glands, one ...
Adrenal cortical carcinoma (ACC) is a rare, fast-growing cancer that starts in the outer layer of the adrenal gland (the cortex). The adrenal cortex makes ...
Adrenal cortex adenocarcinoma, often called adrenocortical carcinoma (ACC), is a rare and aggressive cancer that starts in the outer layer (cortex) of an ...
Adenoid Cystic Carcinoma (ACC) is a slow-growing but stubborn cancer that most often starts in the salivary glands (parotid, submandibular, minor glands of the ...
Adrenocortical carcinoma (ACC) is a rare, fast-growing cancer that starts in the outer layer of the adrenal gland, called the cortex. The adrenal cortex makes ...
Adenocarcinoma is a cancer that starts in gland-forming cells. These cells line many organs and make substances such as mucus, enzymes, or hormones. When their ...
Adrenal cortex carcinoma (ACC) is a rare and aggressive cancer that starts in the outer layer (cortex) of the adrenal gland. Each person has two adrenal glands ...
Autosomal Dominant Intellectual Disability (ADID) is a group of genetic conditions where a single changed gene from one parent (or a new change in the child) ...
ADNP-related multiple congenital anomalies is a rare genetic condition that begins before birth. It happens when one copy of the ADNP gene does not work as it ...
Neurolipomatosis means there is an overgrowth of normal fat and fibrous tissue inside a peripheral nerve. The nerve becomes thick, bulky, and sometimes feels ...
Dercum’s disease is a rare disorder where painful lumps of fat (lipomas and angiolipomas) form in the layer of fat under the skin. The pain can be constant or ...
Adipose tissue rheumatism is an old name for a rare pain condition now most often called adiposis dolorosa or Dercum’s disease. In this condition, the fat ...
Adiposalgia means pain that comes from fatty (adipose) tissue. The pain can be burning, aching, sore, or very tender when pressed. It may come from scattered ...
Adiposis dolorosa, also called Dercum’s disease, is a rare condition in which soft, fatty lumps (lipomas or angiolipomas) form under the skin and are painful. ...
Adenylosuccinate lyase deficiency is a very rare, inherited metabolic brain disorder. It happens when changes (mutations) in the ADSL gene reduce the work of ...
Adenosine triphosphatase (ATPase) deficiency is a group of rare disorders in which one of the body’s ATP-driven pumps or transporters does not work well. ...
Myoadenylate deaminase deficiency is a muscle energy problem. In healthy muscle, an enzyme called myoadenylate deaminase (also named AMP deaminase 1, made by ...
Adenosine monophosphate deaminase deficiency (often shortened to AMPD deficiency) is a muscle energy-processing problem. In healthy muscle, an enzyme called ...
Adenosine kinase (ADK) deficiency is a rare, inherited metabolic disease. A tiny change in both copies of the ADK gene makes the enzyme adenosine kinase work ...
A "Q1 journal" is an academic publication that ranks within the top 25% of journals in its specific subject area, based on metrics like the Journal Impact ...
Adenosine kinase deficiency is a very rare, inherited metabolic disorder. The ADK enzyme normally turns adenosine into AMP. When ADK is weak or missing, ...
Autosomal recessive intellectual disability (ARID) is a group of conditions where a child has global learning and thinking problems because of changes in both ...
ADK hypermethioninemia is a very rare genetic metabolic disorder. It happens when the adenosine kinase (ADK) enzyme does not work well because of changes ...
Adenosine kinase deficiency is a very rare, inherited metabolic disease. The body normally uses an enzyme called adenosine kinase (ADK) to change adenosine ...
Pancreatic adenoma” isn’t a standard modern diagnosis. Most of the time, people are referring to one of two benign (non-cancer) pancreatic tumors: (1) serous ...
An adenoma is a benign (non-cancer) growth that starts from gland-forming cells. In the pancreas, an adenoma can arise from different parts of the organ. Some ...
“Cylindroid adenocarcinoma” is an older name for adenoid cystic carcinoma (ACC), a rare cancer that starts in gland-forming (secretory) tissues—most often the ...
Adenoid cystic carcinoma is a rare cancer that grows from tiny glands that make fluid, most often the salivary glands around the mouth and face. It usually ...
Adenoid cystic carcinoma (ACC) is an uncommon cancer that most often starts in the salivary glands. It can also begin in other glands that make mucus—such as ...
2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called ...
2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal ...
Adenine phosphoribosyltransferase (APRT) deficiency is a rare, inherited disorder of purine recycling (the “salvage pathway”). In healthy cells, the APRT ...
Adducted thumbs–arthrogryposis is a rare, congenital condition where a baby is born with thumbs pulled inward toward the palm (adducted) together with multiple ...
Heredopathia ophthalmo-oto-encephalica is a very rare inherited brain and nerve disease. It is caused by a change (mutation) in a gene called ITM2B/BRI2. This ...
Heredopathia ophthalmo-oto-encephalica is a rare inherited brain-and-body disease. It runs in families in an autosomal dominant way. A small change ...
Familial Danish Dementia is a very rare, inherited brain disease. It runs in families in an autosomal dominant way (if one parent has the faulty gene, each ...
Cerebral amyloid angiopathy, or CAA, is a disease of the small and medium blood vessels on the surface and in the outer parts of the brain. In CAA, a protein ...
ADan amyloidosis is a very rare, inherited brain disease. It happens when a small protein fragment called “ADan” builds up as amyloid in the walls of brain ...
Congenital scalp defects with distal limb reduction anomalies is a rare birth condition where a baby is born with a missing patch of skin on the scalp (often ...
