STGD3
MCID: STR040
MIFTS: 25

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 57 75 29 6 73
Stgd3 57 75 55
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked ) 40
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked 13
Macular Dystrophy Autosomal Dominant Chromosome 6-Linked 75
Stargardt-Like Macular Dystrophy, Autosomal Dominant 57
Macular Dystrophy with Flecks, Type 3 57
Macular Dystrophy with Flecks Type 3 75
Stargardt-Like Macular Dystrophy 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32

Classifications:



External Ids:

OMIM 57 600110
MedGen 42 C1838644
MeSH 44 D003317
UMLS 73 C1838644

Summaries for Stargardt Disease 3

UniProtKB/Swiss-Prot : 75 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, eye and skin, 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
progressive macular dystrophy
macular flecks
central macular atrophy


Clinical features from OMIM:

600110

Human phenotypes related to Stargardt Disease 3:

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 macular dystrophy 32 HP:0007754
3 macular atrophy 32 HP:0007401
4 macular flecks 32 HP:0011507

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 29 ELOVL4

Anatomical Context for Stargardt Disease 3

MalaCards organs/tissues related to Stargardt Disease 3:

41
Retina, Eye, Skin

Publications for Stargardt Disease 3

Articles related to Stargardt Disease 3:

# 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
Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. ( 21429867 )
2011
6
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. ( 17983602 )
2007
7
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
8
Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. ( 16877435 )
2006

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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