MACULAR DEGENERATION, AGE-RELATED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MACULOPATHY, AGE-RELATED, 2
MACULAR DEGENERATION, SENILE
ARMD2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 153800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007868) Age-related macular degeneration 4 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Visual disturbance may precede ophthalmoscopic findings 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Genotype-Phenotype Correlations OMIM Single-copy variants of the Stargardt disease gene ABCR have been shown to confer enhanced susceptibility to ARMD. Bernstein et al. (2002) examined 19 of 33 sibs from 15 Stargardt families who carried their respective proband's variant ABCR allele. ...
Molecular genetics OMIM In 26 of 167 unrelated patients with age-related macular degeneration, Allikmets et al. (1997) identified mutations in the photoreceptor-specific gene ABCR (601691), which is also mutated in Stargardt disease (248200). They found a total of 13 different mutation, ...