MYOPIA 2, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: MYP2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 160700
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:0000541) Retinal detachment 87 / 7739
2
(HPO:0011003) Severe Myopia 31 / 7739
3
(HPO:0000707) Abnormality of the nervous system 61 / 7739
4
(OMIM) Superior intelligence 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 Myopia is, in a sense, a metric character. Variation in many components of the eye contributes to its refractive capacity (Sorsby et al., 1962). High-grade myopia is a refractive error greater than or equal to -6.00 diopters (Young ...
Molecular genetics OMIM Lam et al. (2003) investigated the coding exons of TGF-beta-induced factor (TGIF; 602630), which maps to chromosome 18p, for mutations in Chinese patients with high myopia. Six SNPs showed a significant difference (P less than 0.05) between patient ...