MCID: STR054
MIFTS: 16

Stargardt Disease 4

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease 4

MalaCards integrated aliases for Stargardt Disease 4:

Name: Stargardt Disease 4 57 75 29 13 6 73
Stgd4 57 75
Stargardt Disease, Type 4 40

Characteristics:

HPO:

32
stargardt disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603786
MedGen 42 C1863534
MeSH 44 D003317
UMLS 73 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 domiant trait (summary by Kniazeva et al., 1999). (603786)

MalaCards based summary : Stargardt Disease 4, is also known as stgd4. An important gene associated with Stargardt Disease 4 is PROM1 (Prominin 1). Affiliated tissues include retina, and related phenotypes are macular degeneration and reduced visual acuity

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Stargardt Disease 4

Clinical features from OMIM:

603786

Human phenotypes related to Stargardt Disease 4:

32
# Description HPO Frequency HPO Source Accession
1 macular degeneration 32 HP:0000608
2 reduced visual acuity 32 HP:0007663
3 retinal flecks 32 HP:0012045

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: PROM1-Related Macular Dystrophy Active, not recruiting 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:

41
Retina

Publications for Stargardt Disease 4

Variations for Stargardt Disease 4

UniProtKB/Swiss-Prot genetic disease variations for Stargardt Disease 4:

75
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Stargardt Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
2 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299

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 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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