Genes : CACNA1D and GLUD1 Also known as Hyperinsulinism-hyperammonemia syndrome, congenital hyperinsulinism (CHI) – OMIM# 114206 https://omim.org/entry/114206 – OMIM# 138130 https://omim.org/entry/ 138130 1. The disease Familial Hyperinsulinemic hypoglycaemia or...
(CYP21A2, CYP11B1, CYP11A1, CYP17A1, HSD3B2, POR, StAR genes) The disease Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway...
(CFTR gene) Also known as: Mucoviscidosis OMIM#219700 https://omim.org/entry/219700 1. The disease Cystic Fibrosis is an inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene....
ALPL gene Also known as: Phosphoethanolaminuria OMIM#241500 https://www.omim.org/entry/241500 1. The disease A rare inborn error of metabolism characterized by defective mineralization of bones and teeth and reduced serum...
THRA, THRB, FOXE1, NKX2-1, NKX2-5, PAX8, SLC26A4, FOXI1, KAT6B, KCNJ10, UBR1, GNAS, TPO, SLC5A5, DUOX2, DUOXA2, IYD, SECISBP2, TG, DUOX1, TUBB1, HHEX, TSHR, GLIS3 and DUOXA1 genes – OMIM#190120...
NFKB2 gene Also known as: Immunodeficiency, common variable, 10 – OMIM#615577 https://www.omim.org/entry/615577 The disease A rare disease combining anterior pituitary hormone deficiency and common variable immunodeficiency. The symptoms Disease...