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

STGD4 MCID: STR054 MIFTS: 27	Stargardt Disease 4 (STGD4) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

stargardt disease 4:
Inheritance autosomal dominant inheritance

Classifications:

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
decreased visual acuity
choroidal vascular atrophy seen on fluorescein angiogram
bull's-eye macular atrophy
central retinal epithelial atrophy
flavimaculatus flecks

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. ⁶¹ ⁶ ⁵⁶	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	1329.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	18654668 10205271 20393116 (more) 12657606

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Variations for Stargardt Disease 4

ClinVar genetic disease variations for Stargardt Disease 4:

⁶ (show top 50) (show all 111) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PROM1	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	SNV	Pathogenic	5610	rs137853006	4:16014922-16014922	4:16013299-16013299
2	PROM1	NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	SNV	Conflicting interpretations of pathogenicity	95329	rs149028760	4:15992851-15992851	4:15991228-15991228
3	PROM1	NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	SNV	Conflicting interpretations of pathogenicity	194072	rs200620291	4:16008270-16008270	4:16006647-16006647
4	PROM1	NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)	SNV	Conflicting interpretations of pathogenicity	287074	rs62617075	4:15992900-15992900	4:15991277-15991277
5	PROM1	NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	SNV	Conflicting interpretations of pathogenicity	289314	rs182096110	4:16020080-16020080	4:16018457-16018457
6	PROM1	NM_006017.3(PROM1):c.2271C>T (p.Ile757=)	SNV	Conflicting interpretations of pathogenicity	289616	rs375986111	4:15987392-15987392	4:15985769-15985769
7	PROM1	NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	SNV	Conflicting interpretations of pathogenicity	167535	rs113895168	4:16002200-16002200	4:16000577-16000577
8	PROM1	NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	SNV	Conflicting interpretations of pathogenicity	191189	rs140872693	4:16026841-16026841	4:16025218-16025218
9	PROM1	NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	SNV	Conflicting interpretations of pathogenicity	347978	rs568361529	4:15985950-15985950	4:15984327-15984327
10	PROM1	NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)	SNV	Conflicting interpretations of pathogenicity	348001	rs369815021	4:16025002-16025002	4:16023379-16023379
11	PROM1	NM_006017.3(PROM1):c.*1052G>A	SNV	Conflicting interpretations of pathogenicity	347965	rs577484119	4:15969964-15969964	4:15968341-15968341
12	PROM1	NM_006017.3(PROM1):c.*684C>T	SNV	Conflicting interpretations of pathogenicity	347967	rs140362696	4:15970332-15970332	4:15968709-15968709
13	PROM1	NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	SNV	Conflicting interpretations of pathogenicity	842166		4:16010721-16010721	4:16009098-16009098
14	PROM1	NM_006017.3(PROM1):c.1911+8G>A	SNV	Conflicting interpretations of pathogenicity	636187		4:15993863-15993863	4:15992240-15992240
15	PROM1	NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	SNV	Conflicting interpretations of pathogenicity	684463		4:15989304-15989304	4:15987681-15987681
16	PROM1	NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	SNV	Conflicting interpretations of pathogenicity	787025		4:15995626-15995626	4:15994003-15994003
17	PROM1	NM_006017.3(PROM1):c.714A>G (p.Gly238=)	SNV	Conflicting interpretations of pathogenicity	717840		4:16025019-16025019	4:16023396-16023396
18	PROM1	NM_006017.3(PROM1):c.1279T>C (p.Leu427=)	SNV	Conflicting interpretations of pathogenicity	757831		4:16010594-16010594	4:16008971-16008971
19	PROM1	NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	SNV	Conflicting interpretations of pathogenicity	903034		4:15982049-15982049	4:15980426-15980426
20	PROM1	NM_006017.3(PROM1):c.1738A>C (p.Asn580His)	SNV	Conflicting interpretations of pathogenicity	899856		4:15995639-15995639	4:15994016-15994016
21	PROM1	NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	SNV	Conflicting interpretations of pathogenicity	899857		4:15995667-15995667	4:15994044-15994044
22	PROM1	NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	SNV	Conflicting interpretations of pathogenicity	899918		4:16002229-16002229	4:16000606-16000606
23	PROM1	NM_006017.3(PROM1):c.1407G>A (p.Pro469=)	SNV	Conflicting interpretations of pathogenicity	901090		4:16008208-16008208	4:16006585-16006585
24	PROM1	NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	SNV	Conflicting interpretations of pathogenicity	900895		4:15989322-15989322	4:15987699-15987699
25	PROM1	NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	SNV	Conflicting interpretations of pathogenicity	903654		4:16010678-16010678	4:16009055-16009055
26	PROM1	NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	SNV	Conflicting interpretations of pathogenicity	900247		4:16077372-16077372	4:16075749-16075749
27	PROM1	NM_006017.3(PROM1):c.2582+9A>C	SNV	Conflicting interpretations of pathogenicity	900422		4:15981009-15981009	4:15979386-15979386
28	PROM1	NM_006017.3(PROM1):c.376G>A (p.Val126Met)	SNV	Conflicting interpretations of pathogenicity	901350		4:16035060-16035060	4:16033437-16033437
29	PROM1	NM_006017.3(PROM1):c.1301+11C>A	SNV	Conflicting interpretations of pathogenicity	899993		4:16010561-16010561	4:16008938-16008938
30	PROM1	NM_006017.3(PROM1):c.1301+10T>A	SNV	Conflicting interpretations of pathogenicity	899994		4:16010562-16010562	4:16008939-16008939
31	PROM1	NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)	SNV	Conflicting interpretations of pathogenicity	347991	rs200520976	4:16002206-16002206	4:16000583-16000583
32	PROM1	NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)	SNV	Conflicting interpretations of pathogenicity	347979	rs202029748	4:15985975-15985975	4:15984352-15984352
33	PROM1	NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	SNV	Conflicting interpretations of pathogenicity	347992	rs779072238	4:16008238-16008238	4:16006615-16006615
34	PROM1	NM_006017.3(PROM1):c.2211+7C>T	SNV	Conflicting interpretations of pathogenicity	347981	rs372262346	4:15987573-15987573	4:15985950-15985950
35	PROM1	NM_006017.3(PROM1):c.1683-3C>T	SNV	Conflicting interpretations of pathogenicity	347987	rs143470288	4:15995697-15995697	4:15994074-15994074
36	PROM1	NM_006017.3(PROM1):c.1579-6T>C	SNV	Conflicting interpretations of pathogenicity	347988	rs181261277	4:16000117-16000117	4:15998494-15998494
37	PROM1	NM_006017.3(PROM1):c.843C>T (p.His281=)	SNV	Conflicting interpretations of pathogenicity	347998	rs374394451	4:16020105-16020105	4:16018482-16018482
38	PROM1	NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	SNV	Conflicting interpretations of pathogenicity	347971	rs747844753	4:15981022-15981022	4:15979399-15979399
39	PROM1	NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	SNV	Conflicting interpretations of pathogenicity	347977	rs551849678	4:15985895-15985895	4:15984272-15984272
40	PROM1	NM_006017.3(PROM1):c.1911+14G>A	SNV	Conflicting interpretations of pathogenicity	347984	rs79077926	4:15993857-15993857	4:15992234-15992234
41	PROM1	NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)	SNV	Conflicting interpretations of pathogenicity	347990	rs201870277	4:16002121-16002121	4:16000498-16000498
42	PROM1	NM_006017.3(PROM1):c.181A>G (p.Ile61Val)	SNV	Conflicting interpretations of pathogenicity	348009	rs201701647	4:16077349-16077349	4:16075726-16075726
43	PROM1	NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	SNV	Conflicting interpretations of pathogenicity	347997	rs202041422	4:16019985-16019985	4:16018362-16018362
44	PROM1	NM_006017.3(PROM1):c.717C>T (p.Gly239=)	SNV	Conflicting interpretations of pathogenicity	348003	rs763697898	4:16025016-16025016	4:16023393-16023393
45	PROM1	NM_006017.3(PROM1):c.678G>A (p.Ala226=)	SNV	Conflicting interpretations of pathogenicity	348004	rs187116049	4:16025934-16025934	4:16024311-16024311
46	PROM1	NM_006017.3(PROM1):c.276+15G>T	SNV	Conflicting interpretations of pathogenicity	348008	rs766012920	4:16040554-16040554	4:16038931-16038931
47	PROM1	NM_006017.3(PROM1):c.-25T>A	SNV	Conflicting interpretations of pathogenicity	348012	rs149845694	4:16077554-16077554	4:16075931-16075931
48	PROM1	NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)	SNV	Conflicting interpretations of pathogenicity	391392	rs140682455	4:16010674-16010674	4:16009051-16009051
49	PROM1	NM_006017.3(PROM1):c.-127A>G	SNV	Uncertain significance	348014	rs886059206	4:16077656-16077656	4:16076033-16076033
50	PROM1	NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)	SNV	Uncertain significance	348006	rs369512467	4:16026889-16026889	4:16025266-16025266

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:

OMIM:

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:

Symptoms via clinical synopsis from OMIM:

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