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Niemann-Pick disease type C, severe perinatal form
2 associated genes
16 connected diseases
No signs/symptoms info
Disease Type of connection
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Hereditary breast and ovarian cancer syndrome
Retinitis pigmentosa
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Herpetic encephalitis
LIG4 syndrome
Omenn syndrome
Primary peritoneal carcinoma
Isolated NADH-CoQ reductase deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NPC1 O15118607623
NPC2 P61916601015
No signs/symptoms info available.