MCID: DYN001
MIFTS: 24

Doyne Honeycomb Degeneration of Retina malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Doyne Honeycomb Degeneration of Retina

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NIH Rare Diseases:43 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 choroiditis, 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:47 126600

Aliases & Classifications for Doyne Honeycomb Degeneration of Retina

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Doyne Honeycomb Degeneration of Retina, Aliases & Descriptions:

Name: Doyne Honeycomb Degeneration of Retina 47 11 43
Doyne Honeycomb Retinal Dystrophy 47 43 22 45 24
 
Dhrd 43
Dhd 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM47 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/GeneDecks gene sharing:

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

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 Dystrophy22 24 EFEMP1

Anatomical Context for Doyne Honeycomb Degeneration of Retina

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

33
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:

64
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513

Clinvar genetic disease variations for Doyne Honeycomb Degeneration of Retina:

7
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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Products for genes affiliated with Doyne Honeycomb Degeneration of Retina

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Sources for Doyne Honeycomb Degeneration of Retina

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet