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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/257200
http://purl.bioontology.org/ontology/OMIM/257200
|
|---|---|
| Preferred Name | NIEMANN-PICK DISEASE, TYPE A |
| Synonyms |
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL
ASMD, NEUROVISCERAL TYPE
SPHINGOMYELIN LIPIDOSIS
SPHINGOMYELINASE DEFICIENCY
ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL
ASMD, NEUROVISCERAL TYPE
SPHINGOMYELIN LIPIDOSIS
SPHINGOMYELINASE DEFICIENCY
ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE
|
|---|---|
| prefLabel | NIEMANN-PICK DISEASE, TYPE A
|
| Gene Symbol |
NPD
SMPD1
|
| Scope Statement | Allelic disorder to Nieman-Pick disease type B (607616) [MISCELLANEOUS]
Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0001) [MOLECULAR BASIS]
Death by age 3 years [MISCELLANEOUS]
More common in Ashkenazi Jews [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 11p15.4-p15.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 257200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2675646
C0268242
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |