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Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
HSD10 disease, infantile type
1 associated gene
No signs/symptoms info
Colobomatous microphthalmia
HSD10 disease, infantile type

ABCB6
(UniProt - OMIM)
 HSD17B10
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
(0.63)
HSD17B10


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
HSD10 disease, infantile type
HSD17B10



Colobomatous microphthalmia
HSD10 disease, infantile type

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- 2-methyl-3-hydroxybutyric aciduria, classic type
- 2-methyl-3-hydroxybutyric aciduria, infantile type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
- HSD10 deficiency, classic type
- HSD10 deficiency, infantile type
- HSD10 disease, classic type
- MHBD deficiency, classic type
- MHBD deficiency, infantile type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
9 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.