SBDS, EFL1, DNAJC21 and SRP54 genes Also known as: SDS, Shwachman-Bodian-Diamond Syndrome; Pancreatic insufficiency and bone marrow dysfunction; Lipomatosis of pancreas, congenital Includes: OMIM#260400 https://omim.org/entry/260400 OMIM#617941 https://omim.org/entry/617941 1. The...
SERPINA1 gene OMIM#613490 https://omim.org/entry/613490 1. The disease A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most...
IL10RA and IL10RB genes OMIM#612567 https://omim.org/entry/612567 1. The disease Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel disease (monogenic IBD). Defects in interleukin-10...
ATP7B gene OMIM#277900 https://omim.org/entry/277900 1. The disease Wilson disease is an inherited hepatolenticular degeneration due to abnormal copper metabolism caused by mutations in ATP7B gene. This disorder is inherited...
ATP8B1, ABCB11, ABCB4, TJP2, NR1H4 and MYO5B genes Also known as: PFIC1 or Byler disease, PFIC2, PFIC3, MDR3 deficiency or Progressive familial intrahepatic cholestasis, with elevated serum gamma-glutamyltransferase; PFIC4;...
UGT1A1 gene Also known as: Hyperbilirubinemia, Crigler-Najjar type I; HBLRCN1; Crigler-Najjar type II; Crigler-Najjar syndrome Includes: OMIM#218800 https://omim.org/entry/218800 OMIM#606785 https://omim.org/entry/606785 1. The disease A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to...
DGAT1, NEUROG3, SLC26A3 and SLC9A3 genes Also known as: Congenital diarrhea 7, protein-losing enteropathy type; Congenital diarrhea 4, malabsorptive; Enteric anendocrinosis; Congenital diarrhea 1 secretory chloride; Congenital diarrhea 8,...
APOA5, APOC2, GPIHBP1, LMF1, LPL genes Also known as: Hyperlipidemia, type v; Hyperchylomicronemia, late-onset; Hyperchylomicronemia with hyperprebetalipoproteinemia, familial; Hyperlipemia, mixed; Hyperlipemia, combined fat and carbohydrate-induced; Combined lipase deficiency; Lipoprotein...
LIPA gene Also known as: cholesteryl ester storage disease (CESD); LIPA deficiency; LAL deficiency; Cholesterol ester hydrolase deficiency; Wolman disease OMIM#2278000 https://omim.org/entry/278000 1. The disease The phenotypic spectrum of...