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Niemann-Pick disease type A
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Niemann-Pick disease type B
Autoimmune lymphoproliferative syndrome with recurrent infections
Farber lipogranulomatosis
Hereditary myoclonus - progressive distal muscular atrophy
Intermittent hydrarthrosis
TRAPS syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D052536
Gene symbol UniProt reference OMIM reference
SMPD1 P17405607608
No signs/symptoms info available.