DHD
MCID: DYN002
MIFTS: 29

Doyne Honeycomb Retinal Dystrophy (DHD) malady

Eye, Genetic categories

Summaries for Doyne Honeycomb Retinal Dystrophy

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 carney complex and macular dystrophy. 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 PTEN Pathway. Affiliated tissues include retina and endothelial, and related mouse phenotypes are cardiovascular system and normal.

Description from OMIM:47 126600,126700

Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
doyne honeycomb retinal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

doyne honeycomb retinal dystrophy 43 20 22 45 49 61
doyne honeycomb degeneration of retina 43 47
malattia leventinese 49 61
dhrd 43 49
dominant radial drusen 49
dominant drusen 49
familial drusen 49
dhd 43


External Ids:

ICD10 via Orphanet26 H35.5

Related Diseases for Doyne Honeycomb Retinal Dystrophy

Sources:
17GeneCards, 18GeneDecks
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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
1carney complex10.4
2macular dystrophy10.3
3retinal drusen10.0CFH
4alzheimer's disease10.0CFH
5fundus dystrophy10.0EFEMP1
6age related macular degeneration10.0CFH, EFEMP1

Graphical network of diseases related to Doyne Honeycomb Retinal Dystrophy:



Diseases related to doyne honeycomb retinal dystrophy

Clinical Features for Doyne Honeycomb Retinal Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

126600,126700

Clinical synopsis from OMIM:

126600

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Doyne Honeycomb Retinal Dystrophy:

id Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy20 22 EFEMP1

Anatomical Context for Doyne Honeycomb Retinal Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

33
Retina, Endothelial

Animal Models for Doyne Honeycomb Retinal Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5CFH, EFEMP1, EFEMP2
2MP:00028738.2CFH, EFEMP1, EFEMP2

Publications for Doyne Honeycomb Retinal Dystrophy

Sources:
51PubMed
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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

Genetic Variations for Doyne Honeycomb Retinal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

63
id Symbol AA change Variation SNP ID
1EFEMP1p.Arg345TrpVAR_009513

Expression for genes affiliated with Doyne Honeycomb Retinal Dystrophy

Sources:
1BioGPS, 15Gene 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

Sources:
52QIAGEN, 54Reactome
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Pathways related to Doyne Honeycomb Retinal Dystrophy according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Doyne Honeycomb Retinal Dystrophy

GO Terms for genes affiliated with Doyne Honeycomb Retinal Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Doyne Honeycomb Retinal Dystrophy according to GeneCards/GeneDecks:

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

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

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

Products for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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Sources for Doyne Honeycomb Retinal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet