STARGARDT DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: MACULAR DEGENERATION, JUVENILE
FFM, INCLUDED
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED
MACULAR DYSTROPHY WITH FLECKS, TYPE 1 FUNDUS FLAVIMACULATUS, INCLUDED
STGD
STGD1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 248200
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:0008035) Retinitis pigmentosa inversa 3 / 7739
2
(HPO:0000608) Macular degeneration 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stargardt disease is one of the most frequent causes of macular degeneration in childhood. It has onset between 7 and 12 years, a rapidly progressive course, and a poor final visual outcome. Although visual acuity is severely reduced, ...
Genotype-Phenotype Correlations OMIM Rozet et al. (1998) reported a genotype/phenotype correlation in ABCA4 gene mutations. They found that nonsense mutations truncating the ABCA4 protein consistently led to Stargardt disease, whereas all mutations they identified in the ABCA4 gene in fundus flavimaculatus ...
Molecular genetics OMIM Allikmets et al. (1997) performed mutation analysis of the ABCA4 gene in STGD families and identified a total of 19 different mutations, including homozygous mutations in 2 families with consanguineous parentage (see, e.g., 601691.0002).

Shroyer et ...