Gaucher Disease, Type Iiic malady
Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Respiratory diseases, Bone diseases
Aliases & Descriptions for Gaucher Disease, Type Iiic:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
gaucher disease, type iiic:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Eye diseases, Cardiovascular diseases, Neuronal diseases, Respiratory diseases, Bone diseases
UniProtKB/Swiss-Prot:69 Gaucher disease 3C: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.
MalaCards based summary: Gaucher Disease, Type Iiic, also known as gaucher-like disease, is related to pseudo-gaucher disease and gaucher disease - ophthalmoplegia - cardiovascular calcification, and has symptoms including ophthalmoparesis, abnormality of the aortic valve and abnormality of the aorta. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include heart and eye.
Description from OMIM:51 231005
Diseases in the Pseudo-Gaucher Disease family:
Diseases related to Gaucher Disease, Type Iiic via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Gaucher Disease, Type Iiic:63 53 (show all 27)
Genetic tests related to Gaucher Disease, Type Iiic:
MalaCards organs/tissues related to Gaucher Disease, Type Iiic:35
Search GEO for disease gene expression data for Gaucher Disease, Type Iiic.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet