STGD4
MCID: STR054
MIFTS: 23

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 56 73 29 13 6 71
Stgd4 56 73
Stargardt Disease, Type 4 39

Characteristics:

HPO:

31
stargardt disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 603786
MeSH 43 D003317
MedGen 41 C1863534
UMLS 71 C1863534

Summaries for Stargardt Disease 4

OMIM : 56 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 : 73 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 10.1

Symptoms & Phenotypes for Stargardt Disease 4

Human phenotypes related to Stargardt Disease 4:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 macular degeneration 31 HP:0000608
3 retinal flecks 31 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 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a 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 29 PROM1

Anatomical Context for Stargardt Disease 4

MalaCards organs/tissues related to Stargardt Disease 4:

40
Retina, Eye

Publications for Stargardt Disease 4

Articles related to Stargardt Disease 4:

# Title Authors PMID Year
1
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 56 6 61
10205271 1999
2
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 6 56
18654668 2008
3
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 6
20393116 2010
4
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 6
12657606 2003
5
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. 61
31836589 2019
6
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 61
29417145 2018
7
Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy. 61
29416601 2018
8
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 61
28840994 2017
9
Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium. 61
28437526 2017
10
Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy. 61
19951596 2009

Variations for Stargardt Disease 4

ClinVar genetic disease variations for Stargardt Disease 4:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROM1 NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys)SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299
2 PROM1 NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly)SNV Uncertain significance 191189 rs140872693 4:16026841-16026841 4:16025218-16025218
3 PROM1 NM_001145847.2(PROM1):c.1605G>T (p.Gly535=)SNV Uncertain significance 236524 rs753308387 4:16000058-16000058 4:15998435-15998435
4 PROM1 NM_001145847.2(PROM1):c.1919C>T (p.Ser640Leu)SNV Uncertain significance 425331 rs761911901 4:15992882-15992882 4:15991259-15991259

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

73
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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