Includes: Autosomal dominant severe congenital neutropenia – Also known as: ELANE-related neutropenia – ELANE, GFI1, SRP54 genes OMIM#233700 https://omim.org/entry/233700 OMIM#613107 https://omim.org/entry/613107 OMIM#618752 https://omim.org/entry/618752 – Autosomal recessive severe congenital neutropenia...
26 genes – ADA, AK2, CD247, CD3D, CD3E, CD3G, CIITA, CORO1A, DCLRE1C, DOCK2, FOXN1, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, ZAP70...
CYBA, NCF1, NCF2, NCF4, and CYBB genes Also known as: CYBA deficiency; recessive chronic granulomatous diseases; x-linked chronic granulomatous disease; NCF1 or SOC2 deficiency; NCF2 deficiency; NCF4 deficiency Includes:...
ATP7A gene Également connue sous les noms : Syndrome de Menkes ; Maladie des cheveux crépus ; Maladie des cheveux d’acier, Maladie du transport du cuivre OMIM#309400 https://omim.org/entry/309400 1....
Also known as: Addison disease and cerebral sclerosis; Siemerling-creutzfeldt disease; Bronze Schilder disease; Melanodermic leukodystrophy OMIM#300100 https://omim.org/entry/300100 1. The Disease: A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal...
Also known as: SLO syndrome; RSH syndrome; Rutledge lethal multiple congenital anomaly syndrome; Polydactyly, Sex reversal, renal hypoplasia, and unilobar lung; Lethal acrodysgenital syndrome OMIM#270400 https://omim.org/entry/270400 1. The Disease:...
TTPA gene Also known as: Ataxia, Friedreich-like, with selective vitamin E deficiency; Vitamin E deficiency, familial isolated; VED; Friedreich-like ataxia OMIM#277460 https://omim.org/entry/277460 1. The Disease: A neurodegenerative disease belonging...
Also known as: Encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency OMIM#614458 https://omim.org/entry/614458 1. The Disease: Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an...
Also known as: Bilateral striatal degeneration and progressive polyneuropathy; Striatal necrosis, bilateral, and progressive polyneuropathy OMIM#613710 https://omim.org/entry/613710 1. The Disease: Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic...
Also known as: Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type); THMD1; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness; Rogers syndrome; Thiamine-responsive anemia...