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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 2
4 OMIM references -
13 associated genes
No signs/symptoms info
MMEP syndrome
Hereditary breast and ovarian cancer syndrome

SNX3 BARD1
BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNX3
SNX3
(0.72)
(0.63)
BRCA1
BARD1



Citations in the biomedical literature:


MMEP syndrome
SNX3
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



MMEP syndrome
Hereditary breast and ovarian cancer syndrome

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

Synonym(s):
(no synonyms)

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:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 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 and ovarian cancer syndrome

(no data available)