Hornstein–Knickenberg syndrome is a rare, inherited condition. It runs in families in an autosomal-dominant way, so a parent can pass it to a child. It is ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Birt-Hogg-Dubé syndrome is a rare, inherited condition that mainly affects the skin, lungs, and kidneys. It happens because of a change (pathogenic variant) in ...
KCNK9 imprinting syndrome is a very rare genetic condition that mainly affects the brain, muscles, and feeding in babies and children. Most babies are “floppy” ...
Biemond syndrome type 2 is the name given to a very rare condition reported in a small number of people. Doctors described a group of patients who had a ...
6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency is a rare genetic condition that reduces the body’s supply of tetrahydrobiopterin (BH4). BH4 is a ...
Acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA ...
3-oxothiolase deficiency is a rare, inherited metabolic disorder. The body cannot properly break down the amino acid isoleucine. The body also cannot use ...
Beta-mannosidase deficiency (often called beta-mannosidosis) is a very rare lysosomal storage disorder. The body is missing or has very low activity of an ...
Berk–Tabatznik syndrome (BTS) is an ultra-rare congenital condition described in only a few patients. The consistent features across reports are: short ...
B-cell expansion with nuclear factor kappa-light-chain enhancer of activated B cells and T-cell anergy disease is a rare, inherited immune system disorder. ...
B-cell Expansion with NF-κB and T-cell Anergy is a rare, inherited immune disorder caused by gain-of-function (GOF) mutations in the gene CARD11. CARD11 sits ...
BENTA disease is a rare genetic problem of the immune system. “BENTA” stands for B-cell Expansion with NF-κB and T-cell Anergy. In simple words, people with ...
FGFR2-related bent bone dysplasia is a very rare genetic bone disorder. It starts before birth. A single gene called FGFR2 has a harmful change (a mutation). ...
Benign recurrent intrahepatic cholestasis (BRIC) caused by ATP8B1 mutation is a rare, inherited liver disorder. “Benign” here means it usually does not cause ...
ATP8B1 Benign Recurrent Intrahepatic Cholestasis (BRIC1) is a rare, inherited liver condition caused by changes in the ATP8B1 gene. This gene helps keep the ...
Summerskill–Walshe–Tygstrup syndrome is a rare, inherited liver condition. People with this condition have repeated attacks of cholestasis, which means the ...
Convulsions benign familial neonatal dominant form is the modern name for what used to be called benign familial neonatal convulsions. It is a genetic epilepsy ...
Self-limited (familial) neonatal epilepsy (SeLNE) is a genetic epilepsy syndrome that runs in families in an autosomal dominant pattern. “Autosomal dominant” ...
Mucosal pemphigoid—also called mucous membrane pemphigoid (MMP)—is a rare autoimmune disease. “Autoimmune” means the immune system mistakenly attacks the ...
Cicatricial pemphigoid is an autoimmune disease. “Autoimmune” means your immune system attacks your own body by mistake. In this disease, the attack happens at ...
