Macular Degeneration, X-Linked Atrophic malady
Category: Genetic diseases (common)
Aliases & Descriptions for Macular Degeneration, X-Linked Atrophic:
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance
UniProtKB/Swiss-Prot:67 Macular degeneration, X-linked, atrophic: An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
MalaCards based summary: Macular Degeneration, X-Linked Atrophic, is also known as macular degeneration, x-linked, atrophic, and has symptoms including reduced visual acuityand macular degeneration. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator).
Description from OMIM:49 300834
Search GEO for disease gene expression data for Macular Degeneration, X-Linked Atrophic.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet