MYOPIA 19, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: MYP19
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613969
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:0011003) Severe Myopia 31 / 7739
2
(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 Ma et al. (2010) studied 11 affected individuals from a 4-generation Chinese family from Zhejiang province segregating autosomal dominant high myopia. The average age at diagnosis of myopia was 6.9 years (range, 4 to 11 years). The average ...
Molecular genetics OMIM In a 4-generation Chinese family segregating autosomal dominant high myopia mapping to chromosome 5p15.1-p13.3, Ma et al. (2010) analyzed 6 candidate genes, including CDH6 (603007), CDH10 (604555), CDH12 (600562), PDZD2 (610697), and GOLPH3 (612207), but did not identify ...