Niemann-Pick disease, type B
OMIM:607616Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | SMPD1 |
|---|---|
| DNA Change | |
| A.A. Change | p.Arg608del  |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K.Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum Genet. 1993 Oct;92(4):325-30. |
Variant not named according to HGVS recommendations