MCID: STR040
MIFTS: 23

Stargardt Disease 3

Categories: Genetic diseases, Rare diseases, Eye 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, and related phenotypes are visual impairment and reduced visual acuity

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:
progressive macular dystrophy
macular flecks
central macular atrophy
decreased visual acuity


Clinical features from OMIM:

600110

Human phenotypes related to Stargardt Disease 3:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 reduced visual acuity 32 HP:0007663
3 macular dystrophy 32 HP:0007754
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

Publications for Stargardt Disease 3

Articles related to Stargardt Disease 3:

(show all 12)
# Title Authors Year
1
INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING. ( 26110599 )
2016
2
Differential gene expression in eyecup and retina of a mouse model of Stargardt-like macular dystrophy (STGD3). ( 22199241 )
2012
3
Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3). ( 19933199 )
2010
4
Dominant negative mechanism underlies autosomal dominant Stargardt- like macular dystrophy linked to mutations in ELOVL4. ( 16036915 )
2005
5
Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. ( 16163264 )
2005
6
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. ( 15557430 )
2004
7
Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene. ( 12967813 )
2003
8
A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. ( 11581213 )
2001
9
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. ( 11296022 )
2001
10
Autosomal dominant Stargardt-like macular dystrophy. ( 11578648 )
2001
11
Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. ( 11091913 )
2000
12
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. ( 10218695 )
1999

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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