STGD3
MCID: STR040
MIFTS: 24

Stargardt Disease 3 (STGD3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stargardt Disease 3

MalaCards integrated aliases for Stargardt Disease 3:

Name: Stargardt Disease 3 58 76 30 6 74
Stgd3 58 76 56
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked ) 41
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked 13
Macular Dystrophy Autosomal Dominant Chromosome 6-Linked 76
Stargardt-Like Macular Dystrophy, Autosomal Dominant 58
Macular Dystrophy with Flecks, Type 3 58
Macular Dystrophy with Flecks Type 3 76
Stargardt-Like Macular Dystrophy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33

Classifications:



External Ids:

OMIM 58 600110
MeSH 45 D003317
MedGen 43 C1838644
UMLS 74 C1838644

Summaries for Stargardt Disease 3

UniProtKB/Swiss-Prot : 76 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, is also known as stgd3. An important gene associated with Stargardt Disease 3 is ELOVL4 (ELOVL Fatty Acid Elongase 4). Affiliated tissues include retina, skin and eye, and related phenotypes are reduced visual acuity and macular dystrophy

Description from OMIM: 600110

Related Diseases for Stargardt Disease 3

Diseases in the Stargardt Disease family:

Stargardt Disease 1 Stargardt Disease 3
Stargardt Disease 4

Symptoms & Phenotypes for Stargardt Disease 3

Human phenotypes related to Stargardt Disease 3:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 macular dystrophy 33 HP:0007754
3 macular atrophy 33 HP:0007401
4 macular flecks 33 HP:0011507

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity
progressive macular dystrophy
macular flecks
central macular atrophy

Clinical features from OMIM:

600110

Drugs & Therapeutics for Stargardt Disease 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DHA Supplementation in Patients With STGD3 Completed NCT00420602 Not Applicable

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 30 ELOVL4

Anatomical Context for Stargardt Disease 3

MalaCards organs/tissues related to Stargardt Disease 3:

42
Retina, Skin, Eye

Publications for Stargardt Disease 3

Articles related to Stargardt Disease 3:

(show all 17)
# Title Authors Year
1
Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial. ( 29377748 )
2018
2
Photoreceptor-induced RPE phagolysosomal maturation defects in Stargardt-like Maculopathy (STGD3). ( 29654292 )
2018
3
Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model. ( 26529045 )
2015
4
Long-term retinal cone survival and delayed alteration of the cone mosaic in a transgenic mouse model of stargardt-like dystrophy (STGD3). ( 24334447 )
2014
5
Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4. ( 24664730 )
2014
6
Differential gene expression in eyecup and retina of a mouse model of Stargardt-like macular dystrophy (STGD3). ( 22199241 )
2012
7
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. ( 21429867 )
2011
8
Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3). ( 19933199 )
2010
9
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. ( 17356513 )
2007
10
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. ( 17983602 )
2007
11
Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. ( 16476896 )
2006
12
Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. ( 16877435 )
2006
13
Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy. ( 16364203 )
2005
14
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. ( 15028284 )
2004
15
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. ( 15557430 )
2004
16
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. ( 11726641 )
2001
17
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. ( 11138005 )
2001

Variations for Stargardt Disease 3

ClinVar genetic disease variations for Stargardt Disease 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELOVL4 NM_022726.3(ELOVL4): c.790_794delAACTT (p.Asn264Leufs) deletion Pathogenic rs1131690770 GRCh38 Chromosome 6, 79916759: 79916763
2 ELOVL4 NM_022726.3(ELOVL4): c.790_794delAACTT (p.Asn264Leufs) deletion Pathogenic rs1131690770 GRCh37 Chromosome 6, 80626476: 80626480
3 ELOVL4 NM_022726.3(ELOVL4): c.789_793delTAACTinsAAC (p.Asn264Thrfs) indel Pathogenic rs587776613 GRCh37 Chromosome 6, 80626477: 80626481
4 ELOVL4 NM_022726.3(ELOVL4): c.789_793delTAACTinsAAC (p.Asn264Thrfs) indel Pathogenic rs587776613 GRCh38 Chromosome 6, 79916760: 79916764
5 ELOVL4 NM_022726.3(ELOVL4): c.810C> G (p.Tyr270Ter) single nucleotide variant Pathogenic rs104893946 GRCh37 Chromosome 6, 80626460: 80626460
6 ELOVL4 NM_022726.3(ELOVL4): c.810C> G (p.Tyr270Ter) single nucleotide variant Pathogenic rs104893946 GRCh38 Chromosome 6, 79916743: 79916743
7 ELOVL4 NM_022726.3(ELOVL4): c.351T> A (p.Asn117Lys) single nucleotide variant Uncertain significance rs148018494 GRCh37 Chromosome 6, 80634687: 80634687
8 ELOVL4 NM_022726.3(ELOVL4): c.351T> A (p.Asn117Lys) single nucleotide variant Uncertain significance rs148018494 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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