MYOPIA 22, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: MYP22
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615420
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:0007663) Reduced visual acuity 100 / 7739
2
(HPO:0000545) Myopia 286 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(OMIM) Increased axial length of globe 2 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Myopia of variable severity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are ...
Clinical Description OMIM Zhao et al. (2013) studied a 4-generation Chinese family segregating autosomal dominant high myopia. The proband was a woman who had painless progressive deterioration of bilateral vision from age 20 years; she presented at 50 years of age ...
Molecular genetics OMIM In a 4-generation Chinese family with autosomal dominant high myopia, Zhao et al. (2013) performed exome sequencing and identified a missense mutation in the CCDC111 gene (Y89D; 605421.0001) that segregated with disease in the family and was not ...