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MMEP syndrome
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Semantic dementia
6 associated genes
No signs/symptoms info
MMEP syndrome
Semantic dementia

SNX3
(UniProt - OMIM)
 C9ORF72
(UniProt - OMIM)
CHMP2B
(UniProt - OMIM)
GRN
(UniProt - OMIM)
MAPT
(UniProt - OMIM)
PSEN1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

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


Citations in the biomedical literature:


MMEP syndrome
SNX3
Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



MMEP syndrome
Semantic dementia

Synonym(s):
- MCOPS8
- Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
- Syndromic microphthalmia type 8
- Viljoen-Smart syndrome
Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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


Semantic dementia

(no data available)