DHRD
MCID: DYN002
MIFTS: 39

Doyne Honeycomb Retinal Dystrophy (DHRD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

MalaCards integrated aliases for Doyne Honeycomb Retinal Dystrophy:

Name: Doyne Honeycomb Retinal Dystrophy 58 12 54 76 38 30 56 6 45 15 41 74
Doyne Honeycomb Degeneration of Retina 58 12 54 13
Dhrd 58 12 54 76
Malattia Leventinese 76 74
Dhd 58 54
Doyne Honeycomb Degeneration of Retina; Dhd 58
Mlvt 76
Ml 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? same as drusen of bruch membrane


HPO:

33
doyne honeycomb retinal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060745
OMIM 58 126600
KEGG 38 H02110
MeSH 45 C535602
ICD10 34 H35.5

Summaries for Doyne Honeycomb Retinal Dystrophy

NIH Rare Diseases : 54 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.

MalaCards based summary : Doyne Honeycomb Retinal Dystrophy, also known as doyne honeycomb degeneration of retina, is related to macular degeneration, age-related, 1 and linear skin defects with multiple congenital anomalies 1. An important gene associated with Doyne Honeycomb Retinal Dystrophy is EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1), and among its related pathways/superpathways are Phospholipase-C Pathway and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include retina, eye and prostate, and related phenotypes are visual impairment and retinal dystrophy

Disease Ontology : 12 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 : 76 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: 126600

Related Diseases for Doyne Honeycomb Retinal Dystrophy

Diseases related to Doyne Honeycomb Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 29.8 EFEMP1 ELOVL4
2 linear skin defects with multiple congenital anomalies 1 12.2
3 familial drusen 12.1
4 mucolipidosis iii alpha/beta 12.0
5 mucolipidosis ii alpha/beta 12.0
6 mucolipidosis iv 11.8
7 mucolipidosis iii gamma 11.4
8 mucolipidoses 11.3
9 anuria 11.3
10 mcleod syndrome 11.2
11 hyperprolactinemia 11.1
12 ahumada del castillo syndrome 11.1
13 glucagonoma 11.1
14 neuraminidase deficiency 11.1
15 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.0
16 ascites, chylous 11.0
17 spermatogenic failure, y-linked, 2 11.0
18 complement factor i deficiency 11.0
19 microvascular complications of diabetes 3 11.0
20 aromatase deficiency 11.0
21 masp2 deficiency 11.0
22 mannose-binding lectin deficiency 11.0
23 primary pigmented nodular adrenocortical disease 11.0
24 inclusion-cell disease 11.0
25 glycoproteinosis 11.0
26 orbital disease 11.0
27 hypervitaminosis d 11.0
28 fundus dystrophy 10.9
29 prostate cancer 10.7
30 prostate cancer, hereditary, 8 10.6
31 prostate cancer, hereditary, 6 10.6
32 hypoglycemia 10.5
33 prostatic hyperplasia, benign 10.3
34 microphthalmia 10.3
35 prostatic adenoma 10.3
36 diabetes mellitus 10.3
37 carney complex variant 10.3
38 leprosy 3 10.3
39 hansen's disease 10.3
40 thyroid cancer 10.2
41 pain agnosia 10.1
42 neural tube defects 10.1
43 alacrima, achalasia, and mental retardation syndrome 10.1
44 melanoma 10.1
45 hepatitis 10.1
46 hepatocellular carcinoma 10.0
47 ovarian cancer 10.0
48 adenocarcinoma 10.0
49 ovarian cancer 1 10.0
50 cervical dystonia 10.0

Graphical network of the top 20 diseases related to Doyne Honeycomb Retinal Dystrophy:



Diseases related to Doyne Honeycomb Retinal Dystrophy

Symptoms & Phenotypes for Doyne Honeycomb Retinal Dystrophy

Human phenotypes related to Doyne Honeycomb Retinal Dystrophy:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 retinal dystrophy 33 HP:0000556
3 reticular pigmentary degeneration 33 HP:0007937

Symptoms via clinical synopsis from OMIM:

58
Eyes:
honeycomb retinal degeneration
small round white retinal spots
failing vision

Clinical features from OMIM:

126600

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

Search Clinical Trials , NIH Clinical Center for Doyne Honeycomb Retinal Dystrophy

Cochrane evidence based reviews: doyne honeycomb retinal dystrophy

Genetic Tests for Doyne Honeycomb Retinal Dystrophy

Genetic tests related to Doyne Honeycomb Retinal Dystrophy:

# Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy 30 EFEMP1

Anatomical Context for Doyne Honeycomb Retinal Dystrophy

MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

42
Retina, Eye, Prostate, Thyroid, Brain, Bone, Endothelial

Publications for Doyne Honeycomb Retinal Dystrophy

Articles related to Doyne Honeycomb Retinal Dystrophy:

(show all 19)
# Title Authors Year
1
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. ( 30626431 )
2019
2
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. ( 30541486 )
2018
3
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). ( 30578491 )
2018
4
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. ( 26427406 )
2016
5
Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene. ( 25111685 )
2014
6
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. ( 23943789 )
2014
7
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. ( 23281528 )
2012
8
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
9
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. ( 22031286 )
2011
10
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. ( 17666404 )
2007
11
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. ( 12915309 )
2003
12
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). ( 11913893 )
2002
13
Molecular genetic heterogeneity in autosomal dominant drusen. ( 11389162 )
2001
14
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. ( 10982184 )
2000
15
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). ( 10071196 )
1999
16
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
17
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. ( 10369267 )
1999
18
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. ( 9230832 )
1997
19
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. ( 8817347 )
1996

Variations for Doyne Honeycomb Retinal Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

76
# Symbol AA change Variation ID SNP ID
1 EFEMP1 p.Arg345Trp VAR_009513 rs121434491

ClinVar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh37 Chromosome 2, 56098226: 56098226
2 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh38 Chromosome 2, 55871091: 55871091
3 EFEMP1 NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=) single nucleotide variant Benign rs14282 GRCh37 Chromosome 2, 56144930: 56144930
4 EFEMP1 NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=) single nucleotide variant Benign rs14282 GRCh38 Chromosome 2, 55917795: 55917795
5 EFEMP1 NM_001039348.2(EFEMP1): c.1001-14C> T single nucleotide variant Benign rs45535043 GRCh37 Chromosome 2, 56098272: 56098272
6 EFEMP1 NM_001039348.2(EFEMP1): c.1001-14C> T single nucleotide variant Benign rs45535043 GRCh38 Chromosome 2, 55871137: 55871137
7 EFEMP1 NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55849640 GRCh37 Chromosome 2, 56145171: 56145171
8 EFEMP1 NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55849640 GRCh38 Chromosome 2, 55918036: 55918036
9 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh38 Chromosome 2, 55866273: 55866273
10 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh37 Chromosome 2, 56093408: 56093408
11 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh38 Chromosome 2, 55866378: 55866378
12 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh37 Chromosome 2, 56093513: 56093513
13 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh38 Chromosome 2, 55866386: 55866386
14 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh37 Chromosome 2, 56093521: 56093521
15 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh38 Chromosome 2, 55866405: 55866405
16 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh37 Chromosome 2, 56093540: 56093540
17 EFEMP1 NM_001039348.2(EFEMP1): c.1000+9delA deletion Uncertain significance rs886056191 GRCh38 Chromosome 2, 55874937: 55874937
18 EFEMP1 NM_001039348.2(EFEMP1): c.*649C> T single nucleotide variant Likely benign rs186888998 GRCh38 Chromosome 2, 55866424: 55866424
19 EFEMP1 NM_001039348.2(EFEMP1): c.*649C> T single nucleotide variant Likely benign rs186888998 GRCh37 Chromosome 2, 56093559: 56093559
20 EFEMP1 NM_001039348.2(EFEMP1): c.*146T> A single nucleotide variant Likely benign rs540522685 GRCh38 Chromosome 2, 55866927: 55866927
21 EFEMP1 NM_001039348.2(EFEMP1): c.*146T> A single nucleotide variant Likely benign rs540522685 GRCh37 Chromosome 2, 56094062: 56094062
22 EFEMP1 NM_001039348.2(EFEMP1): c.1000+9delA deletion Uncertain significance rs886056191 GRCh37 Chromosome 2, 56102072: 56102072
23 EFEMP1 NM_001039348.2(EFEMP1): c.1160G> A (p.Arg387Gln) single nucleotide variant Likely benign rs146446706 GRCh38 Chromosome 2, 55870880: 55870880
24 EFEMP1 NM_001039348.2(EFEMP1): c.1160G> A (p.Arg387Gln) single nucleotide variant Likely benign rs146446706 GRCh37 Chromosome 2, 56098015: 56098015
25 EFEMP1 NM_001039348.2(EFEMP1): c.489C> T (p.Tyr163=) single nucleotide variant Likely benign rs761107410 GRCh38 Chromosome 2, 55917693: 55917693
26 EFEMP1 NM_001039348.2(EFEMP1): c.489C> T (p.Tyr163=) single nucleotide variant Likely benign rs761107410 GRCh37 Chromosome 2, 56144828: 56144828
27 EFEMP1 NM_001039348.2(EFEMP1): c.-60G> A single nucleotide variant Likely benign rs192789765 GRCh38 Chromosome 2, 55923722: 55923722
28 EFEMP1 NM_001039348.2(EFEMP1): c.-60G> A single nucleotide variant Likely benign rs192789765 GRCh37 Chromosome 2, 56150857: 56150857
29 EFEMP1 NM_001039348.2(EFEMP1): c.-368G> C single nucleotide variant Benign rs111619737 GRCh38 Chromosome 2, 55924030: 55924030
30 EFEMP1 NM_001039348.2(EFEMP1): c.-368G> C single nucleotide variant Benign rs111619737 GRCh37 Chromosome 2, 56151165: 56151165
31 EFEMP1 NM_001039348.2(EFEMP1): c.-460C> A single nucleotide variant Benign rs79563212 GRCh38 Chromosome 2, 55924122: 55924122
32 EFEMP1 NM_001039348.2(EFEMP1): c.-460C> A single nucleotide variant Benign rs79563212 GRCh37 Chromosome 2, 56151257: 56151257
33 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh37 Chromosome 2, 56151291: 56151291
34 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh38 Chromosome 2, 55924156: 55924156
35 EFEMP1 NM_001039348.2(EFEMP1): c.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh37 Chromosome 2, 56151066: 56151066
36 EFEMP1 NM_001039348.2(EFEMP1): c.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh38 Chromosome 2, 55923931: 55923931
37 EFEMP1 NM_001039348.2(EFEMP1): c.-196C> T single nucleotide variant Benign rs3762514 GRCh37 Chromosome 2, 56150993: 56150993
38 EFEMP1 NM_001039348.2(EFEMP1): c.-196C> T single nucleotide variant Benign rs3762514 GRCh38 Chromosome 2, 55923858: 55923858
39 EFEMP1 NM_001039348.2(EFEMP1): c.-88C> T single nucleotide variant Likely benign rs143361440 GRCh37 Chromosome 2, 56150885: 56150885
40 EFEMP1 NM_001039348.2(EFEMP1): c.-88C> T single nucleotide variant Likely benign rs143361440 GRCh38 Chromosome 2, 55923750: 55923750
41 EFEMP1 NM_001039348.2(EFEMP1): c.-16T> A single nucleotide variant Likely benign rs187417918 GRCh37 Chromosome 2, 56150042: 56150042
42 EFEMP1 NM_001039348.2(EFEMP1): c.-16T> A single nucleotide variant Likely benign rs187417918 GRCh38 Chromosome 2, 55922907: 55922907
43 EFEMP1 NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=) single nucleotide variant Benign rs12292 GRCh37 Chromosome 2, 56145110: 56145110
44 EFEMP1 NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=) single nucleotide variant Benign rs12292 GRCh38 Chromosome 2, 55917975: 55917975
45 EFEMP1 NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=) single nucleotide variant Benign rs35447389 GRCh37 Chromosome 2, 56145071: 56145071
46 EFEMP1 NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=) single nucleotide variant Benign rs35447389 GRCh38 Chromosome 2, 55917936: 55917936
47 EFEMP1 NM_001039348.2(EFEMP1): c.640+6T> C single nucleotide variant Likely benign rs192467647 GRCh37 Chromosome 2, 56108741: 56108741
48 EFEMP1 NM_001039348.2(EFEMP1): c.640+6T> C single nucleotide variant Likely benign rs192467647 GRCh38 Chromosome 2, 55881606: 55881606
49 EFEMP1 NM_001039348.2(EFEMP1): c.761-16_761-15dupTA duplication Benign rs3838530 GRCh37 Chromosome 2, 56103892: 56103893
50 EFEMP1 NM_001039348.2(EFEMP1): c.761-16_761-15dupTA duplication Benign rs3838530 GRCh38 Chromosome 2, 55876757: 55876758

Expression for Doyne Honeycomb Retinal Dystrophy

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

Pathways for Doyne Honeycomb Retinal Dystrophy

Pathways related to Doyne Honeycomb Retinal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 ECM1 EFEMP1 EFEMP2
2
Show member pathways
11.44 ECM1 EFEMP1 EFEMP2
3
Show member pathways
10.49 EFEMP1 EFEMP2
4 10.03 ECM1 EFEMP1 EFEMP2

GO Terms for Doyne Honeycomb Retinal Dystrophy

Cellular components related to Doyne Honeycomb Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 ECM1 EFEMP1 EFEMP2 F10
2 extracellular space GO:0005615 8.92 ECM1 EFEMP1 EFEMP2 F10

Molecular functions related to Doyne Honeycomb Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.13 EFEMP1 EFEMP2 F10
2 extracellular matrix structural constituent GO:0005201 8.8 ECM1 EFEMP1 EFEMP2

Sources for Doyne Honeycomb Retinal Dystrophy

3 CDC
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11 DGIdb
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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