DHD
MCID: DYN002
MIFTS: 33

Doyne Honeycomb Retinal Dystrophy (DHD) malady

Eye diseases, Genetic diseases categories

Summaries for Doyne Honeycomb Retinal Dystrophy

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 PTEN Pathway. Affiliated tissues include retina and eye, and related mouse phenotypes are cardiovascular system and normal.

Description 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, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

doyne honeycomb retinal dystrophy 42 20 22 44 48 60
doyne honeycomb degeneration of retina 42 46
malattia leventinese 48 60
dhrd 42 48
dominant radial drusen 48
dominant drusen 48
familial drusen 48
dhd 42


External Ids:

SNOMED-CT via Orphanet57 193411004
ICD10 via Orphanet26 H35.5

Related Diseases for Doyne Honeycomb Retinal Dystrophy

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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
1age related macular degeneration30.4CFH, EFEMP1
2retinitis10.9
3choroiditis10.4
4carney complex10.4
5retinal drusen10.0CFH
6alzheimer's disease10.0CFH
7fundus dystrophy10.0EFEMP1

Graphical network of diseases related to Doyne Honeycomb Retinal Dystrophy:



Diseases related to doyne honeycomb retinal dystrophy

Clinical Features for Doyne Honeycomb Retinal Dystrophy

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46OMIM
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Clinical features from OMIM:

126600,126700

Clinical synopsis from OMIM:

126600

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Doyne Honeycomb Retinal Dystrophy

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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

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32MalaCards
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MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

32
Retina, Eye

Animal Models for Doyne Honeycomb Retinal Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5CFH, EFEMP1, EFEMP2
2MP:00028738.2CFH, EFEMP1, EFEMP2

Publications for Doyne Honeycomb Retinal Dystrophy

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Genetic Variations for Doyne Honeycomb Retinal Dystrophy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513

Expression for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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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

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51QIAGEN, 53Reactome
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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
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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

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GO Terms for genes affiliated with Doyne Honeycomb Retinal Dystrophy

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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet