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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
MMEP syndrome
Spastic paraplegia - Paget disease of bone

SNX3 VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNX3
(0.63)
VCP



Citations in the biomedical literature:


MMEP syndrome
SNX3
Spastic paraplegia - Paget disease of bone
VCP



MMEP syndrome
Spastic paraplegia - Paget disease of bone

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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


Spastic paraplegia - Paget disease of bone

(no data available)