MCID: DYN001
MIFTS: 21

Doyne Honeycomb Degeneration of Retina malady

Genetic diseases, Rare diseases, Eye diseases categories

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 46 9 42
Doyne Honeycomb Retinal Dystrophy 46 42 20 44 22 61
Horizontal Dissociated Gaze Palsy 61
 
Dhrd 42
Dhd 42


Classifications:



External Ids:

OMIM46 126600

Summaries for Doyne Honeycomb Degeneration of Retina

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NIH Rare Diseases:42 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 retinitis and familial drusen, and has symptoms including autosomal dominant inheritanceand honeycomb retinal 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.

Description from OMIM:46 126600

Related Diseases for Doyne Honeycomb Degeneration of Retina

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Diseases related to Doyne Honeycomb Degeneration of Retina via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis11.0
2familial drusen10.6
3choroiditis10.5
4endotheliitis10.5

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 autosomal dominant inheritance HP:0000006
2 honeycomb retinal degeneration HP:0007937

Drugs & Therapeutics for Doyne Honeycomb Degeneration of Retina

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Drug clinical trials:

Search ClinicalTrials for Doyne Honeycomb Degeneration of Retina

Search 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 Dystrophy20 22 EFEMP1

Anatomical Context for Doyne Honeycomb Degeneration of Retina

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

31
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:

63
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

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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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet