STGD4
MCID: STR054
MIFTS: 19

Stargardt Disease 4 (STGD4)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 4

MalaCards integrated aliases for Stargardt Disease 4:

Name: Stargardt Disease 4 58 76 30 13 6 74
Stgd4 58 76
Stargardt Disease, Type 4 41

Characteristics:

HPO:

33
stargardt disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 603786
MeSH 45 D003317
MedGen 43 C1863534
UMLS 74 C1863534

Summaries for Stargardt Disease 4

OMIM : 58 Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see 248200), but STGD4 is inherited as an autosomal domiant trait (summary by Kniazeva et al., 1999). (603786)

MalaCards based summary : Stargardt Disease 4, also known as stgd4, is related to stargardt disease. An important gene associated with Stargardt Disease 4 is PROM1 (Prominin 1). Affiliated tissues include retina and eye, and related phenotypes are reduced visual acuity and macular degeneration

UniProtKB/Swiss-Prot : 76 Stargardt disease 4: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.

Related Diseases for Stargardt Disease 4

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

Diseases related to Stargardt Disease 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stargardt disease 10.0

Symptoms & Phenotypes for Stargardt Disease 4

Human phenotypes related to Stargardt Disease 4:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 macular degeneration 33 HP:0000608
3 retinal flecks 33 HP:0012045

Clinical features from OMIM:

603786

Drugs & Therapeutics for Stargardt Disease 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Completed NCT02410122

Search NIH Clinical Center for Stargardt Disease 4

Genetic Tests for Stargardt Disease 4

Genetic tests related to Stargardt Disease 4:

# Genetic test Affiliating Genes
1 Stargardt Disease 4 30 PROM1

Anatomical Context for Stargardt Disease 4

MalaCards organs/tissues related to Stargardt Disease 4:

42
Retina, Eye

Publications for Stargardt Disease 4

Articles related to Stargardt Disease 4:

# Title Authors Year
1
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1). ( 30110705 )
2018
2
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )
2010
3
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. ( 18654668 )
2008
4
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. ( 12657606 )
2003
5
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. ( 10205271 )
1999

Variations for Stargardt Disease 4

UniProtKB/Swiss-Prot genetic disease variations for Stargardt Disease 4:

76
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Stargardt Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
2 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
3 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh37 Chromosome 4, 16026841: 16026841
4 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh38 Chromosome 4, 16025218: 16025218
5 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh37 Chromosome 4, 16000058: 16000058
6 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh38 Chromosome 4, 15998435: 15998435
7 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh37 Chromosome 4, 15992882: 15992882
8 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh38 Chromosome 4, 15991259: 15991259

Expression for Stargardt Disease 4

Search GEO for disease gene expression data for Stargardt Disease 4.

Pathways for Stargardt Disease 4

GO Terms for Stargardt Disease 4

Sources for Stargardt Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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