MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED
MCOPCB3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 610092
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0000589) Coloboma 47 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zlotogora et al. (1994) studied isolated colobomatous microphthalmia in multiple relatives of 5 consanguineous families. Microphthalmia was unilateral or bilateral; additional eye findings included microcornea and colobomas of the iris, choroid, optic discs, and/or optic nerve. The intelligence ...
Molecular genetics OMIM In 2 affected individuals from a 4-generation consanguineous Turkish family with microphthalmia, cataract, and coloboma, and in the proband from a consanguineous Arab family with microphthalmia and absent pupils, Percin et al. (2000) identified homozygosity for 2 missense ...