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

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Aliases & Descriptions for Doyne Honeycomb Degeneration of Retina:

Name: Doyne Honeycomb Degeneration of Retina 50 46 12
Doyne Honeycomb Retinal Dystrophy 46 23 68 25 48 66
Malattia Leventinese 23 68 66
Dhrd 46 23 68
 
Horizontal Dissociated Gaze Palsy 66
Mlvt 68
Dhd 46
Ml 68

Characteristics:

HPO:

62
doyne honeycomb degeneration of retina:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 126600

Summaries for Doyne Honeycomb Degeneration of Retina

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NIH Rare Diseases:46 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 inclusion-cell disease, 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.

UniProtKB/Swiss-Prot:68 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:50 126600

Related Diseases for Doyne Honeycomb Degeneration of Retina

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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

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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 visual impairment HP:0000505
2 retinal dystrophy HP:0000556
3 reticular pigmentary degeneration HP:0007937

Drugs & Therapeutics for Doyne Honeycomb Degeneration of Retina

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Interventional clinical trials:

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

Genetic Tests for Doyne Honeycomb Degeneration of Retina

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Genetic tests related to Doyne Honeycomb Degeneration of Retina:

id Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy25 23 EFEMP1

Anatomical Context for Doyne Honeycomb Degeneration of Retina

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

34
Retina, Eye

Animal Models for Doyne Honeycomb Degeneration of Retina or affiliated genes

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Publications for Doyne Honeycomb Degeneration of Retina

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Variations for Doyne Honeycomb Degeneration of Retina

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

68
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513rs121434491

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

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

Pathways for genes affiliated with Doyne Honeycomb Degeneration of Retina

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GO Terms for genes affiliated with Doyne Honeycomb Degeneration of Retina

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Sources for Doyne Honeycomb Degeneration of Retina

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet