STGD4
MCID: STR054
MIFTS: 27

Stargardt Disease 4 (STGD4)

Categories: Eye diseases, Genetic diseases, Neuronal 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:

OMIM:

56
Inheritance:
autosomal dominant


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

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

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. 61 6 56
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:

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# 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>ASNV Conflicting interpretations of pathogenicity 347965 rs577484119 4:15969964-15969964 4:15968341-15968341
12 PROM1 NM_006017.3(PROM1):c.*684C>TSNV 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>ASNV 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>CSNV 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>ASNV Conflicting interpretations of pathogenicity 899993 4:16010561-16010561 4:16008938-16008938
30 PROM1 NM_006017.3(PROM1):c.1301+10T>ASNV 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>TSNV Conflicting interpretations of pathogenicity 347981 rs372262346 4:15987573-15987573 4:15985950-15985950
35 PROM1 NM_006017.3(PROM1):c.1683-3C>TSNV Conflicting interpretations of pathogenicity 347987 rs143470288 4:15995697-15995697 4:15994074-15994074
36 PROM1 NM_006017.3(PROM1):c.1579-6T>CSNV 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>ASNV 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>TSNV Conflicting interpretations of pathogenicity 348008 rs766012920 4:16040554-16040554 4:16038931-16038931
47 PROM1 NM_006017.3(PROM1):c.-25T>ASNV 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>GSNV 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

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

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