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Details of NAGA gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry. |
609241 |
Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. Note=The disease is caused by mutations affecting the gene represented in this entry. |
609242 |
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Naga | | gana-1 | Sp-Naga |
