RETINAL VENOUS BEADING
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 15 |
OrphanetNr: | |
OMIM Id: |
180080
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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:0000123) | Nephritis | 18 / 7739 | ||||
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(HPO:0007721) | Saccular conjunctival aneurysms | 1 / 7739 | ||||
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(HPO:0007815) | Abnormal distribution of retinal arterioles and venules | 1 / 7739 | ||||
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(HPO:0007902) | Vitreous hemorrhage | 9 / 7739 | ||||
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(HPO:0007866) | Retinal infarction | 2 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(OMIM) | Focal retinal edema | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Retinal microaneurysms | 1 / 7739 | ||||
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(OMIM) | Chronic hereditary nephritis | 1 / 7739 | ||||
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(OMIM) | Retinal venous segmental beading | 1 / 7739 | ||||
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(OMIM) | Surface retinal neovascularization | 1 / 7739 | ||||
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(OMIM) | Altered retinal vascular permeability with lipid exudation | 1 / 7739 | ||||
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(OMIM) | Benign neutropenia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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