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Niemann-Pick disease type C, severe early infantile neurologic onset
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
Niemann-Pick disease type C, severe early infantile neurologic onset
Primary peritoneal carcinoma

NPC1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
NPC2
(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
Primary peritoneal carcinoma
BRCA1



Niemann-Pick disease type C, severe early infantile neurologic onset
Primary peritoneal carcinoma

Synonym(s):
(no synonyms)

Synonym(s):
- EOPPC
- Extra-ovarian primary peritoneal carcinoma
- PPC
- Primary peritoneal serous carcinoma
- Serous surface papillary carcinoma
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare abdominal surgical 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: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Primary peritoneal carcinoma

Very frequent
- Acute abdominal pain / colic
- Anomalies of the abdominal wall
- Constipation
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Peritoneal diseases
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Early death / lethality


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

(no data available)