STARGARDT DISEASE 3

General Information (adopted from Orphanet):

Synonyms, Signs: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
MACULAR DYSTROPHY WITH FLECKS, TYPE 3
STGD3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 600110
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0011507) Macular flecks 1 / 7739
2
(HPO:0007754) Macular dystrophy 26 / 7739
3
(HPO:0007663) Reduced visual acuity 100 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(OMIM) Central macular atrophy 2 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Progressive macular dystrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In most instances macular dystrophy with flecks (Stargardt disease) shows an autosomal recessive pattern of inheritance; see 248200. Cibis et al. (1980) reported an extensive family with an apparently dominant form of macular dystrophy with flecks. Some patients ...
Molecular genetics OMIM In all affected members of 5 families with STGD3 or ADMD, including the family reported by Griesinger et al. (2000), Zhang et al. (2001) identified a 5-bp deletion in the ELOVL4 gene (605512.0001).

In all affected ...