OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, CATARACT, AND NYSTAGMUS
MICROPHTHALMIA AND CATARACT 2
MCOPCT2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 212550
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:0000666) Horizontal nystagmus 32 / 7739
3
(HPO:0000567) Chorioretinal coloboma rare [HPO:skoehler] 26 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
6
(HPO:0000501) Glaucoma rare [HPO:skoehler] 180 / 7739
7
(HPO:0000639) Nystagmus 555 / 7739
8
(HPO:0000612) Iris coloboma rare [HPO:skoehler] 116 / 7739
9
(HPO:0000556) Retinal dystrophy 65 / 7739
10
(HPO:0000616) Miosis 11 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zeiter (1963) described a family with bilateral microphthalmia, congenital cataract, and nystagmus in 7 members over 3 generations. Of the 4 affected family members in the youngest generation, 2 were mentally retarded and 1 of the latter also ...
Molecular genetics OMIM In an 18-year-old female with bilateral microphthalmia, cataract, and nystagmus, Gallardo et al. (2004) identified heterozygosity for a missense mutation in the SIX6 gene (606326.0001). Her unaffected father also carried the mutation, which was not found in more ...