Stargardt Disease 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 603786

MeSH ⁴⁵ D003317

MedGen ⁴³ C1863534

SNOMED-CT via HPO ⁷⁰ 13164000 247138002 263681008 more

UMLS ⁷⁴ C1863534

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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.

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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

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Symptoms & Phenotypes for Stargardt Disease 4

Human phenotypes related to Stargardt Disease 4:

³³

#	Description	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

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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

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Genetic Tests for Stargardt Disease 4

Genetic tests related to Stargardt Disease 4:

#	Genetic test	Affiliating Genes
1	Stargardt Disease 4 ³⁰	PROM1

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Anatomical Context for Stargardt Disease 4

MalaCards organs/tissues related to Stargardt Disease 4:

⁴²

Retina, Eye

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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 )	Strauss RW...for?the?ProgStar-4?Study?Group	2018
2	The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )	Michaelides M...Munier FL	2010
3	Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. ( 18654668 )	Yang Z...Zhang K	2008
4	An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. ( 12657606 )	Michaelides M...Moore AT	2003
5	A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. ( 10205271 )	Kniazeva M...Zhang K	1999

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Genes for Stargardt Disease 4

Genes related to Stargardt Disease 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PROM1	Prominin 1	Protein Coding	1336.62	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Gene name Variants (show sections)	10205271 12657606 18654668 (more) 20393116 20301590

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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

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Expression for Stargardt Disease 4

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

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Pathways for Stargardt Disease 4

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GO Terms for Stargardt Disease 4

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Stargardt Disease 4 (STGD4)

Aliases & Classifications for Stargardt Disease 4

MalaCards integrated aliases for Stargardt Disease 4:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Stargardt Disease 4

Related Diseases for Stargardt Disease 4

Diseases in the Stargardt Disease family:

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

Symptoms & Phenotypes for Stargardt Disease 4

Human phenotypes related to Stargardt Disease 4:

Clinical features from OMIM:

Drugs & Therapeutics for Stargardt Disease 4

Interventional clinical trials:

Genetic Tests for Stargardt Disease 4

Genetic tests related to Stargardt Disease 4:

Anatomical Context for Stargardt Disease 4

MalaCards organs/tissues related to Stargardt Disease 4:

Publications for Stargardt Disease 4

Articles related to Stargardt Disease 4:

Genes for Stargardt Disease 4

Genes related to Stargardt Disease 4 (1 elite genes):

Variations for Stargardt Disease 4

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

ClinVar genetic disease variations for Stargardt Disease 4:

Expression for Stargardt Disease 4

Pathways for Stargardt Disease 4

GO Terms for Stargardt Disease 4

Sources for Stargardt Disease 4