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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 603786

MeSH ⁴³ D003317

MedGen ⁴¹ C1863534

SNOMED-CT via HPO ⁶⁸ 13164000 247138002 263681008 more

UMLS ⁷¹ C1863534

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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.

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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	10.1

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Symptoms & Phenotypes for Stargardt Disease 4

Human phenotypes related to Stargardt Disease 4:

³¹

#	Description	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

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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 (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

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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 ²⁹	PROM1

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Anatomical Context for Stargardt Disease 4

MalaCards organs/tissues related to Stargardt Disease 4:

⁴⁰

Retina, Eye

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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	Kniazeva M...Zhang K	10205271	1999
2	Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. ⁶ ⁵⁶	Yang Z...Zhang K	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	Michaelides M...Munier FL	20393116	2010
4	An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. ⁶	Michaelides M...Moore AT	12657606	2003
5	Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. ⁶¹	Ragi SD...Tsang SH	31836589	2019
6	Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? ⁶¹	Donato L...Sidoti A	29417145	2018
7	Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy. ⁶¹	Imani S...Fu J	29416601	2018
8	Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. ⁶¹	Kim JM...Kim SJ	28840994	2017
9	Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium. ⁶¹	Bhattacharya S...Chaum E	28437526	2017
10	Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy. ⁶¹	Ma K...Liu NP	19951596	2009

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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	1326.83	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	12657606 10205271 20393116 (more) 18654668

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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

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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

ClinVar genetic disease variations for Stargardt Disease 4:

UniProtKB/Swiss-Prot 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