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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
4 associated genes
No signs/symptoms info
MMEP syndrome
Hereditary breast cancer

SNX3 BRCA1
BRCA2
KLLN
XRCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNX3
(0.72)
BRCA1



Citations in the biomedical literature:


MMEP syndrome
SNX3
Hereditary breast cancer
BRCA1 BRCA2 KLLN XRCC2



MMEP syndrome
Hereditary breast cancer

Synonym(s):
- MCOPS8
- Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
- Syndromic microphthalmia type 8
- Viljoen-Smart syndrome

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
(no data available)
Epidemiological data:
(no data available)

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

MMEP syndrome

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft lip and palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Median cleft lip
- Microcephaly
- Oligodactyly / ectrodactyly of toes
- Prognathism / prognathia

Frequent
- Fingerlike / triphalangeal thumb
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Chromosomal or genetic anomaly
- Ventricular septal defect / interventricular communication


Hereditary breast cancer

(no data available)