ADK gene Also known: Hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK Deficiency; Mental Retardation, Recessive 8, formely OMIM#614300 https://omim.org/entry/614300 1. The Disease Hypermethioninemia encephalopathy due to adenosine kinase...
AHCY gene Also known: S-AdoHcy Deficiency; SAHH deficiency OMIM#613752 https://omim.org/entry/613752 1. The Disease A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised...
GUSB gene Also known as: Sly syndrome; Beta-glucuronidase deficiency; GUSB deficiency; MPS VII OMIM#253220 https://omim.org/entry/253220 1. The Disease: Mucopolysaccharidosis VII (MPS VII), also known as Sly syndrome, is a...
ARSB gene Also known as: Maroteaux-Lamy syndrome; Arylsulfatase B deficiency; ARSB deficiency; MPSVI; N-Acetylgalactosamine-4-Sulfatase deficiency OMIM#253200 https://omim.org/entry/253200 1. The Disease: Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome,...
GALNS gene Also known as: Morquio A disease; Morquio A syndrome; Galactosamine-6-Sulfatase Deficiency OMIM#253000 https://omim.org/entry/253000 1. The Disease: Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome, is...
IDS gene Also known as: Hunter syndrome; Iduronate-2-Sulfatase deficiency; IDS deficiency; Sulfoiduronate sulfatase deficiency; SIDS deficiency – OMIM#309900 https://omim.org/entry/309900 1. The Disease: Mucopolysaccharidosis II (MPS II), or Hunter syndrome,...
IDUA gene Includes: Hurler-Scheie syndrome – OMIM#607015 https://omim.org/entry/607015 Scheie syndrome – OMIM#607016 https://omim.org/entry/607016 1. The Disease: Mucopolysaccharidosis I (MPS I), or Hurler syndrome, is a lysosomal storage disease leading...
TCN2 gene Also known as: TCII deficiency; TCN2 deficiency – OMIM#275350 https://omim.org/entry/275350 1. The disease: Transcobalamin II (TCII) is an essential plasma protein for the absorption, transportation, and cellular...
Includes: – Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency – MMUT gene – Also known as: Methylmalonic academia due to methylmalonyl-coa mutase deficiency, Methylmalonic Aciduria Vitamin B12 non-responsive, MUT...
Includes: · Homocystinuria – MTHFR gene – Also known as: Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity; methylenetetrahydrofolate reductase deficiency; MTHFR deficiency – OMIM#236250 https://omim.org/entry/236250 · Homocystinuria, cblE type –...