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Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
HSD10 disease, neonatal type
1 associated gene
No signs/symptoms info
Isolated anophthalmia - microphthalmia
HSD10 disease, neonatal type

ALDH1A3
(UniProt - OMIM)
 HSD17B10
(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)
SOX2
(0.63)
HSD17B10


Citations in the biomedical literature:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
HSD10 disease, neonatal type
HSD17B10



Isolated anophthalmia - microphthalmia
HSD10 disease, neonatal type

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Synonym(s):
- 2-methyl-3-hydroxybutyric aciduria, neonatal type
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
- HSD10 deficiency, neonatal type
- MHBD deficiency, neonatal type
Classification (Orphanet):
(no data available)
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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
7 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.