STGD3
MCID: STR040
MIFTS: 34

Stargardt Disease 3 (STGD3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 3

MalaCards integrated aliases for Stargardt Disease 3:

Name: Stargardt Disease 3 57 72 29 6 70
Stgd3 57 72 54
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked 13 39
Macular Dystrophy Autosomal Dominant Chromosome 6-Linked 72
Stargardt-Like Macular Dystrophy, Autosomal Dominant 57
Macular Dystrophy with Flecks, Type 3 57
Macular Dystrophy with Flecks Type 3 72
Stargardt-Like Macular Dystrophy 72

Characteristics:

OMIM®:

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

Miscellaneous:
central vision loss between 5 and 23 years of age


HPO:

31
stargardt disease 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600110
MeSH 44 D003317
MedGen 41 C1838644
SNOMED-CT via HPO 68 13164000 238828009 263681008
UMLS 70 C1838644

Summaries for Stargardt Disease 3

UniProtKB/Swiss-Prot : 72 Stargardt disease 3: 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.

MalaCards based summary : Stargardt Disease 3, also known as stgd3, is related to stargardt disease and retinal degeneration. An important gene associated with Stargardt Disease 3 is ELOVL4 (ELOVL Fatty Acid Elongase 4). The drug Metformin has been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are reduced visual acuity and macular dystrophy

More information from OMIM: 600110

Related Diseases for Stargardt Disease 3

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

Diseases related to Stargardt Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 30.1 ELOVL4 ABCA4
2 retinal degeneration 29.9 ELOVL4 ABCA4
3 fundus dystrophy 29.7 ELOVL4 ABCA4
4 macular degeneration, age-related, 1 29.7 ELOVL4 ABCA4
5 stargardt macular degeneration 29.6 ELOVL4 ABCA4
6 inherited retinal disorder 10.3
7 night blindness, congenital stationary, autosomal dominant 2 10.2
8 yemenite deaf-blind hypopigmentation syndrome 10.2
9 stargardt disease 4 10.2
10 ifap syndrome 2 10.2
11 neuroretinitis 10.2
12 retinitis 10.2
13 pattern dystrophy 10.2
14 retinitis pigmentosa 9.9
15 cone dystrophy 9.9
16 macular degeneration, age-related, 6 9.8 ELOVL4 ABCA4
17 macular degeneration, age-related, 4 9.8 ELOVL4 ABCA4
18 retinitis pigmentosa 19 9.8 ELOVL4 ABCA4
19 vitreoretinochoroidopathy 9.8 ELOVL4 ABCA4
20 retinal drusen 9.8 ELOVL4 ABCA4
21 hereditary retinal dystrophy 9.8 ELOVL4 ABCA4
22 doyne honeycomb retinal dystrophy 9.8 ELOVL4 ABCA4
23 degeneration of macula and posterior pole 9.8 ELOVL4 ABCA4
24 late-onset retinal degeneration 9.8 ELOVL4 ABCA4
25 vitelliform macular dystrophy 9.7 ELOVL4 ABCA4
26 fundus albipunctatus 9.7 ELOVL4 ABCA4
27 eye degenerative disease 9.7 ELOVL4 ABCA4
28 retinal disease 9.7 ELOVL4 ABCA4
29 autosomal recessive congenital ichthyosis 9.7 ELOVL4 ABCA4
30 leber plus disease 9.6 ELOVL4 ABCA4

Graphical network of the top 20 diseases related to Stargardt Disease 3:



Diseases related to Stargardt Disease 3

Symptoms & Phenotypes for Stargardt Disease 3

Human phenotypes related to Stargardt Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 macular dystrophy 31 HP:0007754
3 macular atrophy 31 HP:0007401
4 macular flecks 31 HP:0011507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
macular flecks
decreased visual acuity
progressive macular dystrophy
central macular atrophy

Clinical features from OMIM®:

600110 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Stargardt Disease 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ABCA4 ELOVL4

Drugs & Therapeutics for Stargardt Disease 3

Drugs for Stargardt Disease 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved 657-24-9 14219 4091

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
2 An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4 Recruiting NCT04591483

Search NIH Clinical Center for Stargardt Disease 3

Genetic Tests for Stargardt Disease 3

Genetic tests related to Stargardt Disease 3:

# Genetic test Affiliating Genes
1 Stargardt Disease 3 29 ELOVL4

Anatomical Context for Stargardt Disease 3

MalaCards organs/tissues related to Stargardt Disease 3:

40
Eye, Retina, Skin

Publications for Stargardt Disease 3

Articles related to Stargardt Disease 3:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. 54 6 57 61
11726641 2001
2
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. 6 57 61
11138005 2001
3
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. 6 57
15557430 2004
4
Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. 57 54 61
16476896 2006
5
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. 61 6
15028284 2004
6
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 61 57
10634627 2000
7
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
8
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. 57
15749821 2005
9
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. 57
11296022 2001
10
A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. 57
8002833 1994
11
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. 57
8002834 1994
12
Exclusion of chromosome 11q13 region as a genetic locus responsible for autosomal dominant Stargardt's disease. 57
8154548 1994
13
Dominantly inherited macular dystrophy with flecks (Stargardt). 57
7425904 1980
14
Genetics and molecular pathology of Stargardt-like macular degeneration. 54 61
20096366 2010
15
Role of Elovl4 protein in the biosynthesis of docosahexaenoic acid. 54 61
20238022 2010
16
Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin. 54 61
19682985 2009
17
Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. 54 61
18728184 2008
18
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice. 61 54
17311087 2007
19
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. 54 61
17356513 2007
20
A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. 61 54
11581213 2001
21
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration. 61
32780351 2020
22
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function. 61
30982505 2019
23
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations. 61
31616255 2019
24
Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial. 61
29377748 2018
25
Defective phagosome motility and degradation in cell nonautonomous RPE pathogenesis of a dominant macular degeneration. 61
29735674 2018
26
Photoreceptor-induced RPE phagolysosomal maturation defects in Stargardt-like Maculopathy (STGD3). 61
29654292 2018
27
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 61
29417145 2018
28
Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. 61
29293603 2018
29
Current Progress in Deciphering Importance of VLC-PUFA in the Retina. 61
26427405 2016
30
Mouse Models of Stargardt 3 Dominant Macular Degeneration. 61
26427404 2016
31
Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model. 61
26529045 2015
32
Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks. 61
24833735 2014
33
A role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology. 61
24677106 2014
34
Examination of VLC-PUFA-deficient photoreceptor terminals. 61
24764063 2014
35
Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors. 61
24722693 2014
36
Endoplasmic reticulum microenvironment and conserved histidines govern ELOVL4 fatty acid elongase activity. 61
24569140 2014
37
In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4. 61
24644051 2014
38
Biosynthesis of very long-chain polyunsaturated fatty acids in hepatocytes expressing ELOVL4. 61
24664752 2014
39
Long-term retinal cone survival and delayed alteration of the cone mosaic in a transgenic mouse model of stargardt-like dystrophy (STGD3). 61
24334447 2014
40
Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4. 61
24664730 2014
41
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. 61
23509295 2013
42
Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration. 61
23479632 2013
43
Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function. 61
22199362 2012
44
ELOVL4 protein preferentially elongates 20:5n3 to very long chain PUFAs over 20:4n6 and 22:6n3. 61
22158834 2012
45
Differential gene expression in eyecup and retina of a mouse model of Stargardt-like macular dystrophy (STGD3). 61
22199241 2012
46
Production of ELOVL4 transgenic pigs: a large animal model for Stargardt-like macular degeneration. 61
21873315 2011
47
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. 61
21429867 2011
48
Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies. 61
25324899 2011
49
Hetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy. 61
21139992 2010
50
Polyunsaturated very-long-chain C28-C36 fatty acids and retinal physiology. 61
19666930 2010

Variations for Stargardt Disease 3

ClinVar genetic disease variations for Stargardt Disease 3:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELOVL4 NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs) Deletion Pathogenic 4939 rs1131690770 GRCh37: 6:80626476-80626480
GRCh38: 6:79916759-79916763
2 ELOVL4 NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs) Indel Pathogenic 4940 rs587776613 GRCh37: 6:80626477-80626481
GRCh38: 6:79916760-79916764
3 ABCA4 NM_000350.3(ABCA4):c.1248_1554+248del Deletion Likely pathogenic 929305 GRCh37: 1:94542998-94544254
GRCh38: 1:94077442-94078698
4 ELOVL4 NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) SNV Likely pathogenic 4941 rs104893946 GRCh37: 6:80626460-80626460
GRCh38: 6:79916743-79916743
5 ELOVL4 NM_022726.4(ELOVL4):c.502T>C (p.Leu168=) SNV Uncertain significance 358147 rs886061802 GRCh37: 6:80631381-80631381
GRCh38: 6:79921664-79921664
6 ELOVL4 NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) SNV Uncertain significance 358148 rs148018494 GRCh37: 6:80634687-80634687
GRCh38: 6:79924970-79924970
7 ELOVL4 NM_022726.4(ELOVL4):c.*1020A>G SNV Uncertain significance 911495 GRCh37: 6:80625305-80625305
GRCh38: 6:79915588-79915588
8 ELOVL4 NM_022726.4(ELOVL4):c.*999A>G SNV Uncertain significance 911496 GRCh37: 6:80625326-80625326
GRCh38: 6:79915609-79915609
9 ELOVL4 NM_022726.4(ELOVL4):c.*950T>C SNV Uncertain significance 911497 GRCh37: 6:80625375-80625375
GRCh38: 6:79915658-79915658
10 ELOVL4 NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) SNV Uncertain significance 598145 rs201014417 GRCh37: 6:80636007-80636007
GRCh38: 6:79926290-79926290
11 ELOVL4 NM_022726.4(ELOVL4):c.101-6C>G SNV Uncertain significance 911551 GRCh37: 6:80636104-80636104
GRCh38: 6:79926387-79926387
12 ELOVL4 NM_022726.4(ELOVL4):c.-1G>A SNV Uncertain significance 911552 GRCh37: 6:80656997-80656997
GRCh38: 6:79947280-79947280
13 ABCA4 NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser) SNV Uncertain significance 929304 rs985690206 GRCh37: 1:94512614-94512614
GRCh38: 1:94047058-94047058
14 ELOVL4 NM_022726.4(ELOVL4):c.*1568A>G SNV Uncertain significance 358122 rs886061796 GRCh37: 6:80624757-80624757
GRCh38: 6:79915040-79915040
15 ELOVL4 NM_022726.4(ELOVL4):c.215del (p.Pro72fs) Deletion Uncertain significance 561002 rs746047636 GRCh37: 6:80635984-80635984
GRCh38: 6:79926267-79926267
16 ELOVL4 NM_022726.4(ELOVL4):c.*606G>T SNV Uncertain significance 908523 GRCh37: 6:80625719-80625719
GRCh38: 6:79916002-79916002
17 ELOVL4 NM_022726.4(ELOVL4):c.*363G>A SNV Uncertain significance 908524 GRCh37: 6:80625962-80625962
GRCh38: 6:79916245-79916245
18 ELOVL4 NM_022726.4(ELOVL4):c.*349C>T SNV Uncertain significance 909376 GRCh37: 6:80625976-80625976
GRCh38: 6:79916259-79916259
19 ELOVL4 NM_022726.4(ELOVL4):c.*327A>G SNV Uncertain significance 909377 GRCh37: 6:80625998-80625998
GRCh38: 6:79916281-79916281
20 ELOVL4 NM_022726.4(ELOVL4):c.*309T>C SNV Uncertain significance 909378 GRCh37: 6:80626016-80626016
GRCh38: 6:79916299-79916299
21 ELOVL4 NM_022726.4(ELOVL4):c.*163C>T SNV Uncertain significance 909379 GRCh37: 6:80626162-80626162
GRCh38: 6:79916445-79916445
22 ELOVL4 NM_022726.4(ELOVL4):c.*146A>T SNV Uncertain significance 909380 GRCh37: 6:80626179-80626179
GRCh38: 6:79916462-79916462
23 ELOVL4 NM_022726.4(ELOVL4):c.*1511G>A SNV Uncertain significance 910274 GRCh37: 6:80624814-80624814
GRCh38: 6:79915097-79915097
24 ELOVL4 NM_022726.4(ELOVL4):c.*1423A>G SNV Uncertain significance 910275 GRCh37: 6:80624902-80624902
GRCh38: 6:79915185-79915185
25 ELOVL4 NM_022726.4(ELOVL4):c.*1241T>G SNV Uncertain significance 910276 GRCh37: 6:80625084-80625084
GRCh38: 6:79915367-79915367
26 ELOVL4 NM_022726.4(ELOVL4):c.*1193T>C SNV Uncertain significance 910277 GRCh37: 6:80625132-80625132
GRCh38: 6:79915415-79915415
27 ELOVL4 NM_022726.4(ELOVL4):c.735A>G (p.Lys245=) SNV Uncertain significance 910339 GRCh37: 6:80626535-80626535
GRCh38: 6:79916818-79916818
28 ELOVL4 NM_022726.4(ELOVL4):c.*1038A>G SNV Uncertain significance 358128 rs578261043 GRCh37: 6:80625287-80625287
GRCh38: 6:79915570-79915570
29 ELOVL4 NM_022726.4(ELOVL4):c.*1506A>G SNV Uncertain significance 358125 rs886061798 GRCh37: 6:80624819-80624819
GRCh38: 6:79915102-79915102
30 ELOVL4 NM_022726.4(ELOVL4):c.-236C>G SNV Uncertain significance 358157 rs240307 GRCh37: 6:80657232-80657232
GRCh38: 6:79947515-79947515
31 ELOVL4 NM_022726.4(ELOVL4):c.-163C>A SNV Uncertain significance 358154 rs374986643 GRCh37: 6:80657159-80657159
GRCh38: 6:79947442-79947442
32 ELOVL4 NM_022726.4(ELOVL4):c.-258C>T SNV Uncertain significance 358160 rs886061806 GRCh37: 6:80657254-80657254
GRCh38: 6:79947537-79947537
33 ELOVL4 NM_022726.4(ELOVL4):c.*240C>T SNV Uncertain significance 358140 rs886061801 GRCh37: 6:80626085-80626085
GRCh38: 6:79916368-79916368
34 ELOVL4 NM_022726.4(ELOVL4):c.*125C>A SNV Uncertain significance 358143 rs181283522 GRCh37: 6:80626200-80626200
GRCh38: 6:79916483-79916483
35 ELOVL4 NM_022726.4(ELOVL4):c.*905T>C SNV Uncertain significance 358129 rs886061799 GRCh37: 6:80625420-80625420
GRCh38: 6:79915703-79915703
36 ELOVL4 NM_022726.4(ELOVL4):c.-35C>T SNV Uncertain significance 358149 rs751105802 GRCh37: 6:80657031-80657031
GRCh38: 6:79947314-79947314
37 ELOVL4 NM_022726.4(ELOVL4):c.-248G>A SNV Uncertain significance 358158 rs886061805 GRCh37: 6:80657244-80657244
GRCh38: 6:79947527-79947527
38 ELOVL4 NM_022726.4(ELOVL4):c.*217C>G SNV Uncertain significance 358141 rs537775144 GRCh37: 6:80626108-80626108
GRCh38: 6:79916391-79916391
39 ELOVL4 NM_022726.4(ELOVL4):c.-235C>T SNV Uncertain significance 358155 rs886061804 GRCh37: 6:80657231-80657231
GRCh38: 6:79947514-79947514
40 ELOVL4 NM_022726.4(ELOVL4):c.-262A>G SNV Uncertain significance 358161 rs886061807 GRCh37: 6:80657258-80657258
GRCh38: 6:79947541-79947541
41 ELOVL4 NM_022726.4(ELOVL4):c.*1048G>A SNV Uncertain significance 358127 rs569179100 GRCh37: 6:80625277-80625277
GRCh38: 6:79915560-79915560
42 ELOVL4 NM_022726.4(ELOVL4):c.*803T>C SNV Uncertain significance 358130 rs542722575 GRCh37: 6:80625522-80625522
GRCh38: 6:79915805-79915805
43 ELOVL4 NM_022726.4(ELOVL4):c.-125C>G SNV Uncertain significance 358153 rs886061803 GRCh37: 6:80657121-80657121
GRCh38: 6:79947404-79947404
44 ELOVL4 NM_022726.4(ELOVL4):c.*373A>T SNV Uncertain significance 358136 rs886061800 GRCh37: 6:80625952-80625952
GRCh38: 6:79916235-79916235
45 ELOVL4 NM_022726.4(ELOVL4):c.-252G>A SNV Likely benign 358159 rs539142746 GRCh37: 6:80657248-80657248
GRCh38: 6:79947531-79947531
46 ELOVL4 NM_022726.4(ELOVL4):c.*40A>C SNV Likely benign 358144 rs185190995 GRCh37: 6:80626285-80626285
GRCh38: 6:79916568-79916568
47 ELOVL4 NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) SNV Likely benign 358146 rs17853840 GRCh37: 6:80626571-80626571
GRCh38: 6:79916854-79916854
48 ELOVL4 NM_022726.4(ELOVL4):c.-103G>C SNV Likely benign 358152 rs530801492 GRCh37: 6:80657099-80657099
GRCh38: 6:79947382-79947382
49 ELOVL4 NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val) SNV Likely benign 911550 GRCh37: 6:80634727-80634727
GRCh38: 6:79925010-79925010
50 ELOVL4 NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) SNV Likely benign 358148 rs148018494 GRCh37: 6:80634687-80634687
GRCh38: 6:79924970-79924970

Expression for Stargardt Disease 3

Search GEO for disease gene expression data for Stargardt Disease 3.

Pathways for Stargardt Disease 3

GO Terms for Stargardt Disease 3

Sources for Stargardt Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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