MYOPIA 1, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: MYP1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 310460
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000545) Myopia 286 / 7739
2
(HPO:0001419) X-linked recessive inheritance 189 / 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 Bartsocas and Kastrantas (1981) presented a convincing X-linked pedigree in which 3 myopic brothers had 5 grandsons, through daughters, with myopia. Some of the carrier females had mild myopia ('not requiring corrective glasses'). Although the proband, aged 6.5 ...
Molecular genetics OMIM In the critical region on Xq28 identified for isolated myopia in 2 Indian families, Ratnamala et al. (2011) searched for mutations in exons and splice junctions of 13 candidate genes but did not detect any pathogenic variant.