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 73 29 13 6 71
Stgd4 57 73
Stargardt Disease, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 71 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 05-Mar-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 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®:

57 (Updated 05-Mar-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 05-Mar-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
Retina, Eye

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. 57 6 61
29416601 2018
2
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 61 57 6
10205271 1999
3
Modification of the PROM1 disease phenotype by a mutation in ABCA4. 57 6
31576780 2019
4
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 6 57
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 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.734T>C (p.Leu245Pro) SNV Pathogenic 932145 4:16024999-16024999 4:16023376-16023376
3 PROM1 NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) SNV Pathogenic 811942 rs768526003 4:16035036-16035036 4:16033413-16033413
4 PROM1 NM_006017.3(PROM1):c.*985C>G SNV Uncertain significance 901462 4:15970031-15970031 4:15968408-15968408
5 PROM1 NM_006017.3(PROM1):c.*640T>A SNV Uncertain significance 901516 4:15970376-15970376 4:15968753-15968753
6 PROM1 NM_006017.3(PROM1):c.1579-12A>C SNV Uncertain significance 901585 4:16000123-16000123 4:15998500-15998500
7 PROM1 NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) SNV Uncertain significance 901091 4:16008228-16008228 4:16006605-16006605
8 PROM1 NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV Uncertain significance 809628 rs376198840 4:16025935-16025935 4:16024312-16024312
9 PROM1 NM_006017.3(PROM1):c.*1149A>G SNV Uncertain significance 901959 4:15969867-15969867 4:15968244-15968244
10 PROM1 NM_006017.3(PROM1):c.*580T>A SNV Uncertain significance 902098 4:15970436-15970436 4:15968813-15968813
11 PROM1 NM_006017.3(PROM1):c.2489+8T>C SNV Uncertain significance 902154 4:15982037-15982037 4:15980414-15980414
12 PROM1 NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) SNV Uncertain significance 902565 4:15991381-15991381 4:15989758-15989758
13 PROM1 NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) SNV Uncertain significance 902806 4:16040595-16040595 4:16038972-16038972
14 PROM1 NM_006017.3(PROM1):c.*1143A>C SNV Uncertain significance 902864 4:15969873-15969873 4:15968250-15968250
15 PROM1 NM_006017.3(PROM1):c.*781G>A SNV Uncertain significance 900368 4:15970235-15970235 4:15968612-15968612
16 PROM1 NM_006017.3(PROM1):c.*198T>C SNV Uncertain significance 902975 4:15970818-15970818 4:15969195-15969195
17 PROM1 NM_006017.3(PROM1):c.*189A>G SNV Uncertain significance 900420 4:15970827-15970827 4:15969204-15969204
18 PROM1 NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) SNV Uncertain significance 347983 rs768320190 4:15992874-15992874 4:15991251-15991251
19 PROM1 NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) SNV Uncertain significance 347985 rs886059200 4:15993911-15993911 4:15992288-15992288
20 PROM1 NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) SNV Uncertain significance 348006 rs369512467 4:16026889-16026889 4:16025266-16025266
21 PROM1 NM_006017.3(PROM1):c.717C>T (p.Gly239=) SNV Uncertain significance 348003 rs763697898 4:16025016-16025016 4:16023393-16023393
22 PROM1 NM_006017.3(PROM1):c.1002+5G>A SNV Uncertain significance 438212 rs1196489060 4:16019941-16019941 4:16018318-16018318
23 PROM1 NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV Uncertain significance 901286 4:16025027-16025027 4:16023404-16023404
24 PROM1 NM_006017.3(PROM1):c.380G>T (p.Gly127Val) SNV Uncertain significance 900186 4:16035056-16035056 4:16033433-16033433
25 PROM1 NM_006017.3(PROM1):c.277-15C>T SNV Uncertain significance 348007 rs372599685 4:16037399-16037399 4:16035776-16035776
26 PROM1 NM_006017.3(PROM1):c.*1160A>G SNV Uncertain significance 347962 rs886059194 4:15969856-15969856 4:15968233-15968233
27 PROM1 NM_006017.3(PROM1):c.-168G>A SNV Uncertain significance 348016 rs180926533 4:16077697-16077697 4:16076074-16076074
28 PROM1 NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) SNV Uncertain significance 347994 rs200710798 4:16010594-16010594 4:16008971-16008971
29 PROM1 NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) SNV Uncertain significance 347972 rs201910962 4:15981049-15981049 4:15979426-15979426
30 PROM1 NM_006017.3(PROM1):c.792G>A (p.Lys264=) SNV Uncertain significance 347999 rs776605111 4:16020156-16020156 4:16018533-16018533
31 PROM1 NM_006017.3(PROM1):c.105A>G (p.Glu35=) SNV Uncertain significance 348011 rs886059205 4:16077425-16077425 4:16075802-16075802
32 PROM1 NM_006017.3(PROM1):c.2373+13C>G SNV Uncertain significance 347976 rs886059199 4:15985873-15985873 4:15984250-15984250
33 PROM1 NM_006017.3(PROM1):c.1578+9G>C SNV Uncertain significance 347989 rs747638667 4:16002110-16002110 4:16000487-16000487
34 PROM1 NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) SNV Uncertain significance 347982 rs372632641 4:15992846-15992846 4:15991223-15991223
35 PROM1 NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) SNV Uncertain significance 347990 rs201870277 4:16002121-16002121 4:16000498-16000498
36 PROM1 NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) SNV Uncertain significance 347995 rs886059202 4:16010602-16010602 4:16008979-16008979
37 PROM1 NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) SNV Uncertain significance 348001 rs369815021 4:16025002-16025002 4:16023379-16023379
38 PROM1 NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) SNV Uncertain significance 347986 rs886059201 4:15995660-15995660 4:15994037-15994037
39 PROM1 NM_006017.3(PROM1):c.-127A>G SNV Uncertain significance 348014 rs886059206 4:16077656-16077656 4:16076033-16076033
40 PROM1 NM_006017.3(PROM1):c.*551A>T SNV Uncertain significance 347969 rs886059197 4:15970465-15970465 4:15968842-15968842
41 PROM1 NM_006017.3(PROM1):c.1218C>G (p.Leu406=) SNV Uncertain significance 347996 rs886059203 4:16010655-16010655 4:16009032-16009032
42 PROM1 NM_006017.3(PROM1):c.-148G>A SNV Uncertain significance 348015 rs75531222 4:16077677-16077677 4:16076054-16076054
43 PROM1 NM_006017.3(PROM1):c.1344C>T (p.Ile448=) SNV Uncertain significance 347993 rs147174580 4:16008271-16008271 4:16006648-16006648
44 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 4:16026841-16026841 4:16025218-16025218
45 PROM1 NM_006017.3(PROM1):c.181A>G (p.Ile61Val) SNV Uncertain significance 348009 rs201701647 4:16077349-16077349 4:16075726-16075726
46 PROM1 NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 348010 rs778896066 4:16077375-16077375 4:16075752-16075752
47 PROM1 NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) SNV Uncertain significance 348002 rs752543587 4:16025015-16025015 4:16023392-16023392
48 PROM1 NM_006017.3(PROM1):c.*963A>G SNV Uncertain significance 347966 rs886059196 4:15970053-15970053 4:15968430-15968430
49 PROM1 NM_006017.3(PROM1):c.2281-5C>G SNV Uncertain significance 347980 rs777654968 4:15985983-15985983 4:15984360-15984360
50 PROM1 NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) SNV Uncertain significance 347973 rs534529507 4:15981509-15981509 4:15979886-15979886

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

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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