MYOPIA 3, AUTOSOMAL DOMINANT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYP3 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
603221
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance Heterogeneous [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000541) | Retinal detachment | 87 / 7739 | ||||
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(HPO:0011003) | Severe Myopia | 31 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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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 |
Young et al. (1998) reported a large German/Italian family segregating autosomal dominant high-grade myopia (refractive error greater than or equal to -6.00 diopters). The family had no clinical evidence of connective tissue abnormalities indicative of Stickler syndrome (108300) ... |