MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPCB5
Number of Symptoms 13
OrphanetNr:
OMIM Id: 611638
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000528) Anophthalmia rare [HPO] 12503095 IBIS 42 / 7739
2
(HPO:0007633) Bilateral microphthalmos 13 / 7739
3
(HPO:0000202) Oral cleft rare [HPO] 120 / 7739
4
(HPO:0000568) Microphthalmia hallmark [HPO] 183 / 7739
5
(HPO:0007748) Irido-fundal coloboma hallmark [HPO] 3 / 7739
6
(HPO:0000504) Abnormality of vision common [HPO] 12503095 IBIS 22 / 7739
7
(HPO:0000612) Iris coloboma 116 / 7739
8
(HPO:0003828) Variable expressivity 130 / 7739
9
(HPO:0003829) Incomplete penetrance 85 / 7739
10
(HPO:0001360) Holoprosencephaly rare [HPO] 29 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Coloboma, choreoretinal 1 / 7739
13
(OMIM) Coloboma, uveoretinal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schimmenti et al. (2003) examined an 8-month-old boy with bilateral microphthalmia, bilateral inferonasal coloboma of the iris, a right-sided choreoretinal coloboma involving the entire optic disc and extending into the fovea, and a left-sided uveoretinal coloboma sparing the ...
Molecular genetics OMIM In a boy with bilateral colobomatous microphthalmia, Schimmenti et al. (2003) identified heterozygosity for a 24-bp deletion in the SHH gene (600725.0016). His mother, who had unilateral iris and uveoretinal coloboma, and 3 unaffected family members carried the ...