DHD
MCID: DYN002
MIFTS: 39

Doyne Honeycomb Retinal Dystrophy (DHD) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Doyne Honeycomb Retinal Dystrophy

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Doyne honeycomb retinal dystrophy (dhrd) is a disorder that affects the eyes. it is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (a layer of cells deep in the retina that helps maintain the function of the photoreceptor cells). over time, drusen may enlarge and come together, creating a honeycomb pattern. it typically begins in early to mid adulthood, but age of onset varies. the degree of gradual vision loss varies among affected individuals. dhrd is usually caused by mutations in the efemp1 gene and is inherited in an autosomal dominant manner. last updated: 2/10/2012

MalaCards: Doyne Honeycomb Retinal Dystrophy, also known as doyne honeycomb degeneration of retina, is related to age related macular degeneration and retinitis. An important gene associated with Doyne Honeycomb Retinal Dystrophy is EFEMP1 (EGF containing fibulin-like extracellular matrix protein 1), and among its related pathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include retina, eye and endothelial, and related mouse phenotypes are pigmentation and other.

Description from OMIM:48 126600,126700

Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

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44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 50Orphanet, 63UMLS, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
doyne honeycomb retinal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

doyne honeycomb retinal dystrophy 44 21 23 46 50 63
doyne honeycomb degeneration of retina 44 48
malattia leventinese 50 63
dhrd 44 50
dominant radial drusen 50
dominant drusen 50
familial drusen 50
dhd 44


External Ids:

SNOMED-CT via Orphanet60 193411004
ICD10 via Orphanet27 H35.5

Related Diseases for Doyne Honeycomb Retinal Dystrophy

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18GeneCards, 19GeneDecks
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Diseases related to Doyne Honeycomb Retinal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1age related macular degeneration30.5EFEMP1, CFH
2retinitis10.9
3choroiditis10.5
4carney complex10.5
5endotheliitis10.5
6macular dystrophy10.4

Graphical network of diseases related to Doyne Honeycomb Retinal Dystrophy:



Diseases related to doyne honeycomb retinal dystrophy

Symptoms for Doyne Honeycomb Retinal Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

126600

Clinical features from OMIM:

126600,126700

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Doyne Honeycomb Retinal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Doyne Honeycomb Retinal Dystrophy

Search NIH Clinical Center for Doyne Honeycomb Retinal Dystrophy

Search CenterWatch for Doyne Honeycomb Retinal Dystrophy

Genetic Tests for Doyne Honeycomb Retinal Dystrophy

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21GeneTests, 23GTR
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Genetic tests related to Doyne Honeycomb Retinal Dystrophy:

id Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy21 23 EFEMP1

Anatomical Context for Doyne Honeycomb Retinal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

34
Retina, Eye, Endothelial

Animal Models for Doyne Honeycomb Retinal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0EFEMP1, CFH
2MP:00053958.7EFEMP1, CFH
3MP:00028738.5EFEMP2, EFEMP1, CFH
4MP:00053858.4CFH, EFEMP1, EFEMP2

Publications for Doyne Honeycomb Retinal Dystrophy

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53PubMed
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Articles related to Doyne Honeycomb Retinal Dystrophy:

idTitleAuthorsYear
1
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. (23281528)
2012
2
Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy. (22159686)
2011
3
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. (12915309)
2003
4
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). (11913893)
2002
5
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. (10982184)
2000
6
Radiation hybrid mapping of chromosomal region 2p15-p16: integration of expressed and polymorphic sequences maps at the Carney complex (CNC) and Doyne honeycomb retinal dystrophy (DHRD) loci. (10087203)
1999
7
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). (10071196)
1999
8
A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. (10369267)
1999
9
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. (9230832)
1997

Variations for Doyne Honeycomb Retinal Dystrophy

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

65
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513

Clinvar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

1
id Gene Name 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 Retinal Dystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Doyne Honeycomb Retinal Dystrophy

Search GEO for disease gene expression data for Doyne Honeycomb Retinal Dystrophy.

Pathways for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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51PathCards, 54QIAGEN, 56Reactome
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Pathways related to Doyne Honeycomb Retinal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3EFEMP2, EFEMP1
2
Show member pathways
9.3EFEMP2, EFEMP1
3
Show member pathways
9.3EFEMP2, EFEMP1
4
Show member pathways
9.3EFEMP2, EFEMP1

Compounds for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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GO Terms for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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17Gene Ontology
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Cellular components related to Doyne Honeycomb Retinal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5EFEMP2, EFEMP1, CFH

Biological processes related to Doyne Honeycomb Retinal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.3EFEMP2, EFEMP1

Products for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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Sources for Doyne Honeycomb Retinal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet