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...
Also known as: Thiamine metabolism dysfunction syndrome 2; Basal ganglia disease, biotin-responsive; Thiamine-responsive encephalopathy OMIM#607483 https://omim.org/entry/607483 1. The Disease: BTRE is an autosomal recessive metabolic disorder characterized by episodic...
GOT2 gene Also known as: Developmental and epileptic encephalopathy 82; DEE82; Epileptic encephalopathy, early infantile, 82; EIEE82; Mitochondrial deficiency of glutamate oxaloacetate transaminase OMIM#618721 https://omim.org/entry/618721 1. The Disease: Developmental...
Also known as: Neurodegeneration due to cerebral folate transport deficiency; NCFTD OMIM#613068 https://omim.org/entry/613068 1. The Disease: NCFTD is an autosomal recessive disorder resulting from brain-specific folate deficiency early in...