Biemond Syndrome Type 2
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 pattern of features that seemed to occur ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency
6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency is a rare genetic condition that reduces the body’s supply of tetrahydrobiopterin (BH4). BH4 is a natural helper molecule (a “cofactor”). ...
Acetoacetyl-CoA Thiolase Deficiency
Acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA thiolase (also called T2, encoded by the ...
3-Oxothiolase Deficiency
3-oxothiolase deficiency is a rare, inherited metabolic disorder. The body cannot properly break down the amino acid isoleucine. The body also cannot use ketone bodies well. Ketone bodies are fuels ...
Beta-Mannosidase Deficiency
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 enzyme called beta-mannosidase, which ...
Berk–Tabatznik Syndrome (BTS)
Berk–Tabatznik syndrome (BTS) is an ultra-rare congenital condition described in only a few patients. The consistent features across reports are: short stature, congenital optic atrophy (the optic ...
B-cell Expansion with Nuclear Factor Kappa-Light-Chain Enhancer of Activated B Cells and T-cell Anergy Disease
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. “BENTA” stands for B-cell Expansion with ...
B-cell Expansion with NF-κB and T-cell Anergy (BENTA) Disease
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 inside lymphocytes (B and T cells) and ...
BENTA Disease
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 BENTA make too many young B cells (a type ...
FGFR2- Related Bent Bone Dysplasia
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). This change upsets normal bone growth. As ...
Benign Recurrent Intrahepatic Cholestasis (BRIC) Caused by ATP8B1 Mutation
Benign recurrent intrahepatic cholestasis (BRIC) caused by ATP8B1 mutation is a rare, inherited liver disorder. “Benign” here means it usually does not cause permanent liver damage. “Recurrent” means ...
ATP8B1 Benign Recurrent Intrahepatic Cholestasis (BRIC1)
ATP8B1 Benign Recurrent Intrahepatic Cholestasis (BRIC1) is a rare, inherited liver condition caused by changes in the ATP8B1 gene. This gene helps keep the tiny bile channels in the liver stable. ...
Summerskill–Walshe–Tygstrup Syndrome
Summerskill–Walshe–Tygstrup syndrome is a rare, inherited liver condition. People with this condition have repeated attacks of cholestasis, which means the liver cannot release bile properly. During ...
Convulsions Benign Familial Neonatal Dominant Form
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 that starts in the first week of life ...
Autosomal Dominant Form of Benign Neonatal Seizures
Self-limited (familial) neonatal epilepsy (SeLNE) is a genetic epilepsy syndrome that runs in families in an autosomal dominant pattern. “Autosomal dominant” means a parent with the condition has a ...
Mucosal Pemphigoid (Mucous Membrane Pemphigoid)
Mucosal pemphigoid—also called mucous membrane pemphigoid (MMP)—is a rare autoimmune disease. “Autoimmune” means the immune system mistakenly attacks the body’s own tissues. In MMP, the immune system ...
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