NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
General Information (adopted from Orphanet):
Synonyms, Signs: |
NAION, SUSCEPTIBILITY TO OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
258660
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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 recessive 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:0007634) | Nonarteritic anterior ischemic optic neuropathy | 2 / 7739 | ||||
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(MedDRA:10065373) | Papillophlebitis | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Deutsch et al. (1990) described a family in which identical twin sisters in their forties had bilateral nonarteritic anterior ischemic optic neuropathy (NAION) and a younger sister had unilateral papillophlebitis. Berggren et al. (1974) had reported 3 of ... |
Molecular genetics OMIM | Salomon et al. (2004) reported that the presence of the VNTR B allele of the GP1BA gene (606672.0002) confers a significant risk for NAION and predisposed affected patients to second eye involvement. |