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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
14 associated genes
No signs/symptoms info
MMEP syndrome
Leigh syndrome with leukodystrophy

SNX3 COX10
LIPT1
NDUFA10
NDUFA2
NDUFAF6
NDUFS1
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
SDHA
SLC19A3
SURF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SNX3
(0.49)
NDUFA2



Citations in the biomedical literature:


MMEP syndrome
SNX3
Leigh syndrome with leukodystrophy
COX10 LIPT1 NDUFA10 NDUFA2 NDUFAF6 NDUFS1
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SDHA
SLC19A3 SURF1



MMEP syndrome
Leigh syndrome with leukodystrophy

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

Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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


Leigh syndrome with leukodystrophy

(no data available)