Doyne Honeycomb Degeneration of Retina malady
Categories: Genetic diseases, Rare diseases, Eye diseases
Aliases & Descriptions for Doyne Honeycomb Degeneration of Retina:
doyne honeycomb degeneration of retina:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
NIH Rare Diseases:47 Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies. The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. Last updated: 10/20/2014
MalaCards based summary: Doyne Honeycomb Degeneration of Retina, also known as doyne honeycomb retinal dystrophy, is related to mucolipidosis iii alpha/beta and mucolipidosis ii alpha/beta, and has symptoms including visual impairment, retinal dystrophy and reticular pigmentary degeneration. An important gene associated with Doyne Honeycomb Degeneration of Retina is EFEMP1 (EGF Containing Fibulin Like Extracellular Matrix Protein 1). Affiliated tissues include retina and eye.
Disease Ontology:11 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has material basis in mutations in the EFEMP1 gene on chromosome 2p16.
UniProtKB/Swiss-Prot:69 Doyne honeycomb retinal dystrophy: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.
Description from OMIM:51 126600
MalaCards organs/tissues related to Doyne Honeycomb Degeneration of Retina:35
UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Degeneration of Retina:69
Clinvar genetic disease variations for Doyne Honeycomb Degeneration of Retina:5
Search GEO for disease gene expression data for Doyne Honeycomb Degeneration of Retina.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet