Rx Autoimmune, Genetic and Rare Diseases (A – Z) – Page 164

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Rx Autoimmune, Genetic and Rare Diseases (A – Z)

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alveolar Capillary Dysplasia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV, OMIM# 265380) is a rare disorder present at birth (congenital). Infants experience severe, life-threatening ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alternating Hemiplegia of Childhood (AHC)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental transient episode of hemiplegia alternating in the laterality or quadriparesis, nystagmus, and other paroxysmal attacks ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alström Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alport Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alport syndrome is a rare genetic also known as hereditary nephritis is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4, and alpha-5 of type 4 collagen ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alpha-Mannosidosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of diseases that is generally ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alpha-1 Antitrypsin Deficiency (A1AD)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alpha-1 antitrypsin deficiency (A1AD) is a clinically under-recognized hereditary genetic disorder that causes the defective production of alpha-1 antitrypsin protein and AAT protein protects the ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alpha Thalassemia X-linked Intellectual Disability (ATR-X) Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by intellectual ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alpha Thalassemia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha-globin subunits, resulting in low levels of hemoglobin that is ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alpers Disease

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease associated with mutations in the mitochondrial DNA ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alopecia areata

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alopecia areata is a form of alopecia that impacts hair follicles, nails, and rarely, the retinal pigment epithelium and typically presents with round patches and is a type of non-scarring hair ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alexander Disease

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alexander disease is an extremely rare, autosomal dominant leukodystrophy, which is a neurological condition caused by anomalies in the myelin which protects nerve fibers in the brain with ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Alagille Syndrome (ALGS)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Alagille syndrome (ALGS) also known as arteriohepatic dysplasia is a rare genetic multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

ALAD Porphyria

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

ALAD porphyria is a very rare genetic metabolic disease characterized by an almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. The deficiency of this enzyme ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

AIDS Dysmorphic Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

The term “AIDS dysmorphic syndrome” or “HIV embryopathy” has been used by some researchers to describe specific facial malformations (i.e., craniofacial dysmorphism), an unusually small head, and ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Aicardi Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Aicardi syndrome is also known as agenesis of the corpus callosum with chorioretinitis abnormality, agenesis of the corpus callosum with infantile spasms and ocular anomalies, callosal agenesis, ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Ahumada-Del Castillo Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Acquired Agranulocytosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Acquired agranulocytosis is rare, also known as agranulosis or granulopenia, a drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Agenesis of Corpus Callosum (ACC)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Agenesis of corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum that is present at birth (congenital). It occurs when the ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Agammaglobulinemia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

An agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

African Iron Overload Disease

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

African iron overload also known as Bantu siderosis or dietary iron overload is a rare disorder characterized by abnormally elevated levels of iron in the body. The name originates from the ...