MCID: DYN001
MIFTS: 27

Doyne Honeycomb Degeneration of Retina malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Doyne Honeycomb Degeneration of Retina

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Aliases & Descriptions for Doyne Honeycomb Degeneration of Retina:

Name: Doyne Honeycomb Degeneration of Retina 52 11 48 12
Doyne Honeycomb Retinal Dystrophy 11 48 24 70 27 50 68
Dhrd 11 48 24 70
Malattia Leventinese 24 70 68
 
Horizontal Dissociated Gaze Palsy 68
Mlvt 70
Dhd 48
Ml 70

Characteristics:

HPO:

64
doyne honeycomb degeneration of retina:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 126600
Disease Ontology11 DOID:0060745
ICD1030 H35.5

Summaries for Doyne Honeycomb Degeneration of Retina

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NIH Rare Diseases:48 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 mucolipidosis iii alpha/beta and mucolipidosis ii alpha/beta, and has symptoms including visual impairment, retinal dystrophy and reticular pigmentary 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.

Disease Ontology:11 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has material basis in mutations in the EFEMP1 gene on chromosome 2p16.

UniProtKB/Swiss-Prot:70 Doyne honeycomb retinal dystrophy: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.

Description from OMIM:52 126600

Related Diseases for Doyne Honeycomb Degeneration of Retina

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Graphical network of the top 20 diseases related to Doyne Honeycomb Degeneration of Retina:



Diseases related to doyne honeycomb degeneration of retina

Symptoms & Phenotypes for Doyne Honeycomb Degeneration of Retina

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Symptoms by clinical synopsis from OMIM:

126600

Clinical features from OMIM:

126600

Human phenotypes related to Doyne Honeycomb Degeneration of Retina:

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id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 retinal dystrophy64 HP:0000556
3 reticular pigmentary degeneration64 HP:0007937

Drugs & Therapeutics for Doyne Honeycomb Degeneration of Retina

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Interventional clinical trials:

Search ClinicalTrials, 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 Dystrophy27 24 EFEMP1

Anatomical Context for Doyne Honeycomb Degeneration of Retina

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

36
Retina, Eye

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:

70
id Symbol AA change Variation ID SNP ID
1EFEMP1p.Arg345TrpVAR_009513rs121434491

Clinvar genetic disease variations for Doyne Honeycomb Degeneration of Retina:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EFEMP1NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp)SNVPathogenicrs121434491GRCh37Chr 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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GO Terms for genes affiliated with Doyne Honeycomb Degeneration of Retina

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Sources for Doyne Honeycomb Degeneration of Retina

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet