MACULAR DEGENERATION, AGE-RELATED, 13

General Information (adopted from Orphanet):

Synonyms, Signs: ARMD13
Number of Symptoms 4
OrphanetNr:
OMIM Id: 615439
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:0000608) Macular degeneration 36 / 7739
3
(OMIM) Mild subclinical decrease in renal function 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 84 unrelated patients with ARMD, van de Ven et al. (2013) analyzed the candidate gene CFI (217030) and identified 2 heterozygous missense mutations: G119R (217030.0010) in 3 probands, and G188A in 1 proband and 3 affected family ...