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
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007634) Nonarteritic anterior ischemic optic neuropathy 2 / 7739
2
(MedDRA:10065373) Papillophlebitis 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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.