ATP7A gene Also known as: Menkes syndrome; Kinky hair disease; Steely hair disease Copper transport disease OMIM#309400 https://omim.org/entry/309400 1. The Disease: A rare congenital disorder of copper metabolism with...
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:...
Gène TTPA Également connu sous le nom de : Ataxie de type Friedreich avec carence sélective en vitamine E ; carence familiale isolée en vitamine E ; VED ;...
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...
Gène GOT2 Également connu sous le nom de : Encéphalopathie épileptique et développementale 82 ; DEE82 ; Encéphalopathie épileptique infantile précoce 82 ; EIEE82 ; Déficit mitochondrial en glutamate...
Gène FOLR1 Également connu sous le nom de : Neurodégénérescence due à un déficit du transport cérébral des folates ; NCFTD OMIM#613068 https://omim.org/entry/613068 1. La maladie La NCFTD est...