STGD1
MCID: STR042
MIFTS: 18

Stargardt Disease, Autosomal Recessive (STGD1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

Aliases & Descriptions for Stargardt Disease, Autosomal Recessive:

Name: Stargardt Disease, Autosomal Recessive 24
Stgd1 24 52
Macular Dystrophy with Flecks Type 1 24
Macular Degeneration, Juvenile 24
Fundus Flavimaculatus 24
Stargardt Disease 1 69

Classifications:



Summaries for Stargardt Disease, Autosomal Recessive

MalaCards based summary : Stargardt Disease, Autosomal Recessive, also known as stgd1, is related to multifocal pattern dystrophy simulating fundus flavimaculatus and stargardt disease. An important gene associated with Stargardt Disease, Autosomal Recessive is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3). The drugs Vitamin A and acetic acid have been mentioned in the context of this disorder.

Related Diseases for Stargardt Disease, Autosomal Recessive

Graphical network of the top 20 diseases related to Stargardt Disease, Autosomal Recessive:



Diseases related to Stargardt Disease, Autosomal Recessive

Symptoms & Phenotypes for Stargardt Disease, Autosomal Recessive

Drugs & Therapeutics for Stargardt Disease, Autosomal Recessive

Drugs for Stargardt Disease, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
2
acetic acid Approved, Nutraceutical Phase 2 64-19-7 176
3
Retinol acetate Phase 2 127-47-9 10245972
4 Vitamins Phase 2
5 Retinol palmitate Phase 2
6 retinol Nutraceutical Phase 2
7 Omega 3 Fatty Acid Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
2 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1

Search NIH Clinical Center for Stargardt Disease, Autosomal Recessive

Genetic Tests for Stargardt Disease, Autosomal Recessive

Genetic tests related to Stargardt Disease, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Stargardt Disease, Autosomal Recessive 24 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

Publications for Stargardt Disease, Autosomal Recessive

Variations for Stargardt Disease, Autosomal Recessive

Expression for Stargardt Disease, Autosomal Recessive

Search GEO for disease gene expression data for Stargardt Disease, Autosomal Recessive.

Pathways for Stargardt Disease, Autosomal Recessive

GO Terms for Stargardt Disease, Autosomal Recessive

Cellular components related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 ABCA4 CNGB3

Biological processes related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 ABCA4 CNGB3
2 visual perception GO:0007601 8.62 ABCA4 CNGB3

Sources for Stargardt Disease, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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