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Mowat-Wilson syndrome due to a point mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
No signs/symptoms info
Mowat-Wilson syndrome due to a point mutation
Isolated anophthalmia - microphthalmia

ZEB2
(UniProt - OMIM)
 ALDH1A3
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PRSS56
(UniProt - OMIM)
RAX
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ZEB2
(0.63)
SOX2


Citations in the biomedical literature:


Mowat-Wilson syndrome due to a point mutation
ZEB2
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



Mowat-Wilson syndrome due to a point mutation
Isolated anophthalmia - microphthalmia

Synonym(s):
- Hirschsprung disease and intellectual deficit due to a point mutation
Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.