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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
4 associated genes
No signs/symptoms info
Pontocerebellar hypoplasia type 4
Hereditary breast cancer

TSEN54 BRCA1
BRCA2
KLLN
XRCC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Pontocerebellar hypoplasia type 4
TSEN54
Hereditary breast cancer
BRCA1 BRCA2 KLLN XRCC2



Pontocerebellar hypoplasia type 4
Hereditary breast cancer

Synonym(s):
- Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
- Olivopontocerebellar hypoplasia
- PCH4

Synonym(s):
- Familial breast cancer
- Familial breast carcinoma
- Hereditary breast carcinoma

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C536716
External references:
6 OMIM references -
No MeSH references

No signs/symptoms info available.