IRIDOGONIODYSGENESIS, TYPE 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA, AUTOSOMAL DOMINANT IRIDOGONIODYSGENESIS SYNDROME IRID2 IHGA IGDS |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
137600
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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:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0007990) | Hypoplastic iris stroma | 9 / 7739 | ||||
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(OMIM) | Light colored iris | 1 / 7739 | ||||
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(OMIM) | Goniodysgenesis | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Berg (1932) described 22 affected individuals in 6 generations. McCulloch (1950) described 18 affected in 5 generations. Weatherill and Hart (1969) observed glaucoma in many members of 5 generations. Not only is the stroma of the iris hypoplastic ... |
| Molecular genetics OMIM |
In the family with autosomal dominant iris hypoplasia with early-onset glaucoma reported by Heon et al. (1995), Alward et al. (1998) identified heterozygosity for a mutation in the PITX2 gene (601542.0007). Kulak et al. (1998) demonstrated ... |