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12p12.1 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
No signs/symptoms info
12p12.1 microdeletion syndrome
Isolated anophthalmia - microphthalmia

SOX5
(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)
SOX5
(0.63)
SOX2


Citations in the biomedical literature:


12p12.1 microdeletion syndrome
SOX5
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



12p12.1 microdeletion syndrome
Isolated anophthalmia - microphthalmia

Synonym(s):
- Del(12)(p12.1)
- Monosomy 12p12.1
Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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.