Stargardt Disease 4 (STGD4)

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OMIM 57 603786 MedGen 42 C1863534 MeSH 44 D003317

SNOMED-CT via HPO 69 263681008 422338006 13164000 247138002 more UMLS 73 C1863534

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

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.

Clinical features from OMIM:

603786

Search NIH Clinical Center for Stargardt Disease 4

Search GEO for disease gene expression data for Stargardt Disease 4.