Gaucher Disease, Atypical malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Gaucher Disease, Atypical:
gaucher disease, atypical:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
UniProtKB/Swiss-Prot:67 Gaucher disease, atypical, due to saposin C deficiency: A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
MalaCards based summary: Gaucher Disease, Atypical, is also known as gaucher disease, atypical, due to saposin c deficiency, and has symptoms including osteopenia, seizures and myoclonus. An important gene associated with Gaucher Disease, Atypical is PSAP (Prosaposin). Affiliated tissues include spleen.
Description from OMIM:49 610539
Clinical features from OMIM:610539
HPO human phenotypes related to Gaucher Disease, Atypical:(show all 8)
MalaCards organs/tissues related to Gaucher Disease, Atypical:33
UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Atypical:67
Clinvar genetic disease variations for Gaucher Disease, Atypical:5
Search GEO for disease gene expression data for Gaucher Disease, Atypical.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet