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Niemann-Pick disease type C, severe early infantile neurologic onset
2 associated genes
No signs/symptoms info
COMMON GENES: 2
Niemann-Pick disease type C, severe perinatal form
2 associated genes
No signs/symptoms info
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form

NPC1
(UniProt - OMIM)
 NPC1
(UniProt - OMIM)
NPC2
(UniProt - OMIM)
 NPC2
(UniProt - OMIM)

COMMON
GENES 		NPC1
NPC2


Citations in the biomedical literature:


Niemann-Pick disease type C, severe early infantile neurologic onset
NPC1 NPC2
Niemann-Pick disease type C, severe perinatal form



Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
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 -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.