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Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
COMMON GENES: 1
Anophthalmia/microphthalmia - esophageal atresia
1 OMIM reference -
1 associated gene
19 signs/symptoms
Colobomatous microphthalmia
Anophthalmia/microphthalmia - esophageal atresia

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

COMMON
GENES 		SOX2


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Anophthalmia/microphthalmia - esophageal atresia



Colobomatous microphthalmia
Anophthalmia/microphthalmia - esophageal atresia

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- MCOPS3
- Syndromic microphthalmia type 3
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Anophthalmia/microphthalmia - esophageal atresia

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal dominant inheritance
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Abnormal vertebral size / shape
- Corpus callosum / septum pellucidum total / partial agenesis
- External ear anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of iris
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Rib number anomalies
- Sclerocornea
- Ventricular septal defect / interventricular communication


Colobomatous microphthalmia

(no data available)