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 57 72 29 13 6 70
Stgd4 57 72
Stargardt Disease, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
stargardt disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 603786
MeSH 44 D003317
MedGen 41 C1863534
UMLS 70 C1863534

Summaries for Stargardt Disease 4

OMIM® : 57 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 dominant trait (summary by Kniazeva et al., 1999). (603786) (Updated 20-May-2021)

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 eye and retina, and related phenotypes are reduced visual acuity and macular degeneration

UniProtKB/Swiss-Prot : 72 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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Eye, Retina

Publications for Stargardt Disease 4

Articles related to Stargardt Disease 4:

(show all 11)
# Title Authors PMID Year
1
Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy. 61 6 57
29416601 2018
2
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 61 6 57
10205271 1999
3
Modification of the PROM1 disease phenotype by a mutation in ABCA4. 6 57
31576780 2019
4
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 57 6
18654668 2008
5
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 6
20393116 2010
6
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 6
12657606 2003
7
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. 61
31836589 2019
8
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 61
29417145 2018
9
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 61
28840994 2017
10
Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium. 61
28437526 2017
11
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 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.734T>C (p.Leu245Pro) SNV Pathogenic 932145 GRCh37: 4:16024999-16024999
GRCh38: 4:16023376-16023376
2 PROM1 NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) SNV Pathogenic 811942 rs768526003 GRCh37: 4:16035036-16035036
GRCh38: 4:16033413-16033413
3 PROM1 NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) SNV Pathogenic 5610 rs137853006 GRCh37: 4:16014922-16014922
GRCh38: 4:16013299-16013299
4 PROM1 NM_006017.3(PROM1):c.*640T>A SNV Uncertain significance 901516 GRCh37: 4:15970376-15970376
GRCh38: 4:15968753-15968753
5 PROM1 NM_006017.3(PROM1):c.*985C>G SNV Uncertain significance 901462 GRCh37: 4:15970031-15970031
GRCh38: 4:15968408-15968408
6 PROM1 NM_006017.3(PROM1):c.380G>T (p.Gly127Val) SNV Uncertain significance 900186 GRCh37: 4:16035056-16035056
GRCh38: 4:16033433-16033433
7 PROM1 NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV Uncertain significance 901286 GRCh37: 4:16025027-16025027
GRCh38: 4:16023404-16023404
8 PROM1 NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) SNV Uncertain significance 347974 rs886059198 GRCh37: 4:15982054-15982054
GRCh38: 4:15980431-15980431
9 PROM1 NM_006017.3(PROM1):c.*1070A>G SNV Uncertain significance 347964 rs886059195 GRCh37: 4:15969946-15969946
GRCh38: 4:15968323-15968323
10 PROM1 NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) SNV Uncertain significance 425331 rs761911901 GRCh37: 4:15992882-15992882
GRCh38: 4:15991259-15991259
11 PROM1 NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV Uncertain significance 236524 rs753308387 GRCh37: 4:16000058-16000058
GRCh38: 4:15998435-15998435
12 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
13 PROM1 NM_006017.3(PROM1):c.1579-12A>C SNV Uncertain significance 901585 GRCh37: 4:16000123-16000123
GRCh38: 4:15998500-15998500
14 PROM1 NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) SNV Uncertain significance 901091 GRCh37: 4:16008228-16008228
GRCh38: 4:16006605-16006605
15 PROM1 NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV Uncertain significance 809628 rs376198840 GRCh37: 4:16025935-16025935
GRCh38: 4:16024312-16024312
16 PROM1 NM_006017.3(PROM1):c.*1149A>G SNV Uncertain significance 901959 GRCh37: 4:15969867-15969867
GRCh38: 4:15968244-15968244
17 PROM1 NM_006017.3(PROM1):c.*580T>A SNV Uncertain significance 902098 GRCh37: 4:15970436-15970436
GRCh38: 4:15968813-15968813
18 PROM1 NM_006017.3(PROM1):c.2489+8T>C SNV Uncertain significance 902154 GRCh37: 4:15982037-15982037
GRCh38: 4:15980414-15980414
19 PROM1 NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) SNV Uncertain significance 902565 GRCh37: 4:15991381-15991381
GRCh38: 4:15989758-15989758
20 PROM1 NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) SNV Uncertain significance 902806 GRCh37: 4:16040595-16040595
GRCh38: 4:16038972-16038972
21 PROM1 NM_006017.3(PROM1):c.*1143A>C SNV Uncertain significance 902864 GRCh37: 4:15969873-15969873
GRCh38: 4:15968250-15968250
22 PROM1 NM_006017.3(PROM1):c.*781G>A SNV Uncertain significance 900368 GRCh37: 4:15970235-15970235
GRCh38: 4:15968612-15968612
23 PROM1 NM_006017.3(PROM1):c.*198T>C SNV Uncertain significance 902975 GRCh37: 4:15970818-15970818
GRCh38: 4:15969195-15969195
24 PROM1 NM_006017.3(PROM1):c.*189A>G SNV Uncertain significance 900420 GRCh37: 4:15970827-15970827
GRCh38: 4:15969204-15969204
25 PROM1 NM_006017.3(PROM1):c.1002+5G>A SNV Uncertain significance 438212 rs1196489060 GRCh37: 4:16019941-16019941
GRCh38: 4:16018318-16018318
26 PROM1 NM_006017.3(PROM1):c.*107G>T SNV Uncertain significance 900421 GRCh37: 4:15970909-15970909
GRCh38: 4:15969286-15969286
27 PROM1 NM_006017.3(PROM1):c.*681C>G SNV Uncertain significance 900369 GRCh37: 4:15970335-15970335
GRCh38: 4:15968712-15968712
28 PROM1 NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) SNV Uncertain significance 864624 GRCh37: 4:16017830-16017830
GRCh38: 4:16016207-16016207
29 PROM1 NM_006017.3(PROM1):c.1279T>C (p.Leu427=) SNV Uncertain significance 757831 rs200710798 GRCh37: 4:16010594-16010594
GRCh38: 4:16008971-16008971
30 PROM1 NM_006017.3(PROM1):c.2397A>G (p.Gly799=) SNV Uncertain significance 899417 GRCh37: 4:15982137-15982137
GRCh38: 4:15980514-15980514
31 PROM1 NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) SNV Uncertain significance 348006 rs369512467 GRCh37: 4:16026889-16026889
GRCh38: 4:16025266-16025266
32 PROM1 NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) SNV Uncertain significance 347985 rs886059200 GRCh37: 4:15993911-15993911
GRCh38: 4:15992288-15992288
33 PROM1 NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) SNV Uncertain significance 347983 rs768320190 GRCh37: 4:15992874-15992874
GRCh38: 4:15991251-15991251
34 PROM1 NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) SNV Uncertain significance 347973 rs534529507 GRCh37: 4:15981509-15981509
GRCh38: 4:15979886-15979886
35 PROM1 NM_006017.3(PROM1):c.2281-5C>G SNV Uncertain significance 347980 rs777654968 GRCh37: 4:15985983-15985983
GRCh38: 4:15984360-15984360
36 PROM1 NM_006017.3(PROM1):c.*963A>G SNV Uncertain significance 347966 rs886059196 GRCh37: 4:15970053-15970053
GRCh38: 4:15968430-15968430
37 PROM1 NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) SNV Uncertain significance 348002 rs752543587 GRCh37: 4:16025015-16025015
GRCh38: 4:16023392-16023392
38 PROM1 NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 348010 rs778896066 GRCh37: 4:16077375-16077375
GRCh38: 4:16075752-16075752
39 PROM1 NM_006017.3(PROM1):c.717C>T (p.Gly239=) SNV Uncertain significance 348003 rs763697898 GRCh37: 4:16025016-16025016
GRCh38: 4:16023393-16023393
40 PROM1 NM_006017.3(PROM1):c.181A>G (p.Ile61Val) SNV Uncertain significance 348009 rs201701647 GRCh37: 4:16077349-16077349
GRCh38: 4:16075726-16075726
41 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
42 PROM1 NM_006017.3(PROM1):c.1344C>T (p.Ile448=) SNV Uncertain significance 347993 rs147174580 GRCh37: 4:16008271-16008271
GRCh38: 4:16006648-16006648
43 PROM1 NM_006017.3(PROM1):c.-148G>A SNV Uncertain significance 348015 rs75531222 GRCh37: 4:16077677-16077677
GRCh38: 4:16076054-16076054
44 PROM1 NM_006017.3(PROM1):c.1218C>G (p.Leu406=) SNV Uncertain significance 347996 rs886059203 GRCh37: 4:16010655-16010655
GRCh38: 4:16009032-16009032
45 PROM1 NM_006017.3(PROM1):c.-127A>G SNV Uncertain significance 348014 rs886059206 GRCh37: 4:16077656-16077656
GRCh38: 4:16076033-16076033
46 PROM1 NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) SNV Uncertain significance 347986 rs886059201 GRCh37: 4:15995660-15995660
GRCh38: 4:15994037-15994037
47 PROM1 NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) SNV Uncertain significance 347995 rs886059202 GRCh37: 4:16010602-16010602
GRCh38: 4:16008979-16008979
48 PROM1 NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) SNV Uncertain significance 347990 rs201870277 GRCh37: 4:16002121-16002121
GRCh38: 4:16000498-16000498
49 PROM1 NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) SNV Uncertain significance 347982 rs372632641 GRCh37: 4:15992846-15992846
GRCh38: 4:15991223-15991223
50 PROM1 NM_006017.3(PROM1):c.1578+9G>C SNV Uncertain significance 347989 rs747638667 GRCh37: 4:16002110-16002110
GRCh38: 4:16000487-16000487

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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