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Pontocerebellar hypoplasia type 2

4 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Primary peritoneal carcinoma

1 associated gene
9 signs/symptoms

Pontocerebellar hypoplasia type 2

Primary peritoneal carcinoma

SEPSECS	(UniProt - OMIM)		BRCA1	(UniProt - OMIM)
TSEN2	(UniProt - OMIM)
TSEN34	(UniProt - OMIM)
TSEN54	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSEN54	(0.63)	BRCA1

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 2		Primary peritoneal carcinoma
	Synonym(s): - PCH2		Synonym(s): - EOPPC - Extra-ovarian primary peritoneal carcinoma - PPC - Primary peritoneal serous carcinoma - Serous surface papillary carcinoma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent 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: 4 OMIM references - 1 MeSH reference: C548070		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
Pontocerebellar hypoplasia type 2
(no data available)