DHD
MCID: DYN002
MIFTS: 38

Doyne Honeycomb Retinal Dystrophy (DHD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Doyne Honeycomb Retinal Dystrophy

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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 Retinal Dystrophy, also known as doyne honeycomb degeneration of retina, is related to age related macular degeneration and retinitis, and has symptoms including 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.

Descriptions from OMIM:46 126600,126700

Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Doyne Honeycomb Retinal Dystrophy, Aliases & Descriptions:

Name: Doyne Honeycomb Retinal Dystrophy 42 20 22 44 48 62
Doyne Honeycomb Degeneration of Retina 42 46 62
Malattia Leventinese 48 62
Dhrd 42 48
 
Dominant Radial Drusen 48
Dominant Drusen 48
Familial Drusen 48
Dhd 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
doyne honeycomb retinal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 H35.5

Related Diseases for Doyne Honeycomb Retinal Dystrophy

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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
4endotheliitis10.5
5macular 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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Symptoms by clinical synopsis from OMIM:

126600

Clinical features from OMIM:

126600,126700

HPO human phenotypes related to Doyne Honeycomb Retinal Dystrophy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 honeycomb retinal degeneration HP:0007937

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Doyne Honeycomb Retinal Dystrophy

Search NIH Clinical Center for Doyne Honeycomb Retinal Dystrophy

Genetic Tests for Doyne Honeycomb Retinal Dystrophy

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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

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MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

32
Retina, Eye, Endothelial

Animal Models for Doyne Honeycomb Retinal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

36
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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Articles related to Doyne Honeycomb Retinal Dystrophy:

idTitleAuthorsYear
1
MALATTIA LEVENTINESE/DOYNE HONEYCOMB RETINAL DYSTROPHY IN A CHINESE FAMILY WITH MUTATION OF THE EFEMP1 GENE. (25111685)
2014
2
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. (23281528)
2012
3
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
4
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. (12915309)
2003
5
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). (11913893)
2002
6
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. (10982184)
2000
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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UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

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

Clinvar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

6
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.1204C= (p.His402=)single nucleotide variantPathogenicrs1061170GRCh37Chr 1, 196659237: 196659237
2CFHNM_000186.3(CFH): c.1222C> T (p.Gln408Ter)single nucleotide variantPathogenicrs121913061GRCh37Chr 1, 196659255: 196659255
3CFHNM_000186.3(CFH): c.3234G> T (p.Arg1078Ser)single nucleotide variantPathogenicrs121913062GRCh37Chr 1, 196712682: 196712682
4CFHNM_000186.3(CFH): c.350+6T> Gsingle nucleotide variantPathogenicrs387906550GRCh37Chr 1, 196643098: 196643098
5EFEMP1NM_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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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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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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet