MCID: DYN001
MIFTS: 27

Doyne Honeycomb Degeneration of Retina malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Doyne Honeycomb Degeneration of Retina

About this section

Aliases & Descriptions for Doyne Honeycomb Degeneration of Retina:

Name: Doyne Honeycomb Degeneration of Retina 49 11 45
Doyne Honeycomb Retinal Dystrophy 45 22 47 67 24 65
Malattia Leventinese 22 67 65
Dhrd 45 22 67
 
Horizontal Dissociated Gaze Palsy 65
Mlvt 67
Dhd 45
Ml 67

Characteristics:

HPO:

61
doyne honeycomb degeneration of retina:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 126600
UMLS65 C1832174, C0344247, C1852020

Summaries for Doyne Honeycomb Degeneration of Retina

About this section
NIH Rare Diseases:45 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 familial drusen, and has symptoms including reticular pigmentary degeneration, retinal dystrophy and visual impairment. An important gene associated with Doyne Honeycomb Degeneration of Retina is EFEMP1 (EGF Containing Fibulin-Like Extracellular Matrix Protein 1). Affiliated tissues include retina, eye and breast.

UniProtKB/Swiss-Prot:67 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:49 126600

Related Diseases for Doyne Honeycomb Degeneration of Retina

About this section

Graphical network of the top 20 diseases related to Doyne Honeycomb Degeneration of Retina:



Diseases related to doyne honeycomb degeneration of retina

Symptoms for Doyne Honeycomb Degeneration of Retina

About this section

Symptoms by clinical synopsis from OMIM:

126600

Clinical features from OMIM:

126600

HPO human phenotypes related to Doyne Honeycomb Degeneration of Retina:

id Description Frequency HPO Source Accession
1 reticular pigmentary degeneration HP:0007937
2 retinal dystrophy HP:0000556
3 visual impairment HP:0000505

Drugs & Therapeutics for Doyne Honeycomb Degeneration of Retina

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Doyne Honeycomb Degeneration of Retina

Genetic Tests for Doyne Honeycomb Degeneration of Retina

About this section

Genetic tests related to Doyne Honeycomb Degeneration of Retina:

id Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy22 EFEMP1

Anatomical Context for Doyne Honeycomb Degeneration of Retina

About this section

MalaCards organs/tissues related to Doyne Honeycomb Degeneration of Retina:

33
Retina, Eye, Breast, Skin

Animal Models for Doyne Honeycomb Degeneration of Retina or affiliated genes

About this section

Publications for Doyne Honeycomb Degeneration of Retina

About this section

Variations for Doyne Honeycomb Degeneration of Retina

About this section

UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Degeneration of Retina:

67
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513

Clinvar genetic disease variations for Doyne Honeycomb Degeneration of Retina:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EFEMP1NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp)single nucleotide variantPathogenicrs121434491GRCh37Chr 2, 56098226: 56098226

Expression for genes affiliated with Doyne Honeycomb Degeneration of Retina

About this section
Search GEO for disease gene expression data for Doyne Honeycomb Degeneration of Retina.

Pathways for genes affiliated with Doyne Honeycomb Degeneration of Retina

About this section

GO Terms for genes affiliated with Doyne Honeycomb Degeneration of Retina

About this section

Sources for Doyne Honeycomb Degeneration of Retina

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet