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Niemann-Pick disease type C, severe early infantile neurologic onset
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary site-specific ovarian cancer syndrome
2 associated genes
No signs/symptoms info
Niemann-Pick disease type C, severe early infantile neurologic onset
Hereditary site-specific ovarian cancer syndrome

NPC1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
NPC2
(UniProt - OMIM)
 BRCA2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NPC2
(0.63)
BRCA1


Citations in the biomedical literature:


Niemann-Pick disease type C, severe early infantile neurologic onset
NPC1 NPC2
Hereditary site-specific ovarian cancer syndrome
BRCA1 BRCA2



Niemann-Pick disease type C, severe early infantile neurologic onset
Hereditary site-specific ovarian cancer syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
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: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.