NANOPHTHALMOS 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA NANOPHTHALMIA 1 MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT NANOPHTHALMOS, AUTOSOMAL DOMINANT NNO1 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
600165
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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 [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:0007633) | Bilateral microphthalmos | 13 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by Othman et al., 1998). - Genetic ... |
| Clinical Description OMIM |
Othman et al. (1998) performed clinical and genetic evaluations of members of a large family with the dominant form of nanophthalmos. Hyperopia ranged from +7.25 to +13.00, with a mean of +9.88 diopters in 22 affected members. Twelve ... |