Macular Dystrophy, Vitelliform, 2 malady
Categories: Genetic diseases, Eye diseases, Rare diseases
Aliases & Descriptions for Macular Dystrophy, Vitelliform, 2:
Orphanet epidemiological data:53
juvenile-onset vitelliform macular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Denmark),1-5/10000 (Sweden),1-9/100000 (Europe); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy
macular dystrophy, vitelliform, 2:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
ICD10: 30 29
Rare eye diseases
OMIM:51 Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of... (153700) more...
MalaCards based summary: Macular Dystrophy, Vitelliform, 2, also known as vitelliform macular dystrophy, is related to best vitelliform macular dystrophy and prph2-related adult-onset vitelliform macular dystrophy, and has symptoms including visual impairment, abnormality of the macula and abnormality of color vision. An important gene associated with Macular Dystrophy, Vitelliform, 2 is BEST1 (Bestrophin 1). Affiliated tissues include eye, retina and b cells, and related mouse phenotypes are pigmentation and vision/eye.
Disease Ontology:11 A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
UniProtKB/Swiss-Prot:69 Macular dystrophy, vitelliform, 2: An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Genetics Home Reference:25 Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.
Wikipedia:70 Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder... more...
Human phenotypes related to Macular Dystrophy, Vitelliform, 2:63 53 (show all 10)
Drugs for Macular Dystrophy, Vitelliform, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:
Search NIH Clinical Center for Macular Dystrophy, Vitelliform, 2
MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 2:35
Eye, Retina, B cells, Lung
UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 2:69 (show all 93)
Clinvar genetic disease variations for Macular Dystrophy, Vitelliform, 2:5 (show all 16)
Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 2.
Cellular components related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:
Biological processes related to Macular Dystrophy, Vitelliform, 2 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet