DHRD
MCID: DYN002
MIFTS: 40

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 57 12 53 75 37 29 55 6 44 15 40 73
Doyne Honeycomb Degeneration of Retina 57 12 53 13
Dhrd 57 12 53 75
Malattia Leventinese 75 73
Dhd 57 53
Doyne Honeycomb Degeneration of Retina; Dhd 57
Mlvt 75
Ml 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? same as drusen of bruch membrane


HPO:

32
doyne honeycomb retinal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 126600
Disease Ontology 12 DOID:0060745
ICD10 33 H35.5
MeSH 44 C535602
KEGG 37 H02110

Summaries for Doyne Honeycomb Retinal Dystrophy

NIH Rare Diseases : 53 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 bone, 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 : 75 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 156)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 30.0 EFEMP1 ELOVL4
2 linear skin defects with multiple congenital anomalies 1 12.1
3 familial drusen 12.0
4 mucolipidosis iii alpha/beta 12.0
5 mucolipidosis ii alpha/beta 12.0
6 mucolipidosis iv 11.7
7 mucolipidosis iii gamma 11.4
8 mucolipidoses 11.3
9 anuria 11.3
10 mcleod syndrome 11.2
11 neuraminidase deficiency 11.0
12 infantile recurrent chronic multifocal osteomyolitis 11.0
13 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.9
14 ascites, chylous 10.9
15 spermatogenic failure, y-linked, 2 10.9
16 complement factor i deficiency 10.9
17 microvascular complications of diabetes 3 10.9
18 aromatase deficiency 10.9
19 masp2 deficiency 10.9
20 mannose-binding lectin deficiency 10.9
21 hyperprolactinemia 10.9
22 primary pigmented nodular adrenocortical disease 10.9
23 inclusion-cell disease 10.9
24 orbital disease 10.9
25 hypervitaminosis d 10.9
26 ahumada del castillo syndrome 10.9
27 fundus dystrophy 10.8
28 prostate cancer 10.6
29 hypoglycemia 10.5
30 microphthalmia 10.3
31 carney complex variant 10.3
32 prostatic hyperplasia, benign 10.3
33 prostatic adenoma 10.3
34 melanoma 10.1
35 diabetes mellitus 10.1
36 hepatitis 10.0
37 cervical dystonia 10.0
38 pulpitis 10.0
39 dystonia 10.0
40 hepatocellular carcinoma 9.9
41 diabetes mellitus, insulin-dependent 9.9
42 adenocarcinoma 9.9
43 adenoma 9.9
44 lipoid proteinosis of urbach and wiethe 9.9 ECM1 EFEMP1
45 diabetes mellitus, noninsulin-dependent 9.8
46 focal dermal hypoplasia 9.8
47 aging 9.8
48 suppression of tumorigenicity 12 9.8
49 ventricular fibrillation, paroxysmal familial, 1 9.8
50 ovarian cancer 1 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
honeycomb retinal degeneration
small round white retinal spots
failing vision


Clinical features from OMIM:

126600

Human phenotypes related to Doyne Honeycomb Retinal Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 retinal dystrophy 32 HP:0000556
3 reticular pigmentary degeneration 32 HP:0007937

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 29 EFEMP1

Anatomical Context for Doyne Honeycomb Retinal Dystrophy

MalaCards organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

41
Retina, Eye, Bone, Brain, Liver, Prostate, Thyroid

Publications for Doyne Honeycomb Retinal Dystrophy

Articles related to Doyne Honeycomb Retinal Dystrophy:

(show all 12)
# Title Authors Year
1
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. ( 30541486 )
2018
2
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. ( 26427406 )
2016
3
MALATTIA LEVENTINESE/DOYNE HONEYCOMB RETINAL DYSTROPHY IN A CHINESE FAMILY WITH MUTATION OF THE EFEMP1 GENE. ( 25111685 )
2014
4
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. ( 23281528 )
2012
5
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
6
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. ( 12915309 )
2003
7
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). ( 11913893 )
2002
8
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. ( 10982184 )
2000
9
A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. ( 10369267 )
1999
10
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
11
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). ( 10071196 )
1999
12
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. ( 9230832 )
1997

Variations for Doyne Honeycomb Retinal Dystrophy

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

75
# 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.518-13A> G single nucleotide variant Benign rs3748959 GRCh37 Chromosome 2, 56108882: 56108882
6 EFEMP1 NM_001039348.2(EFEMP1): c.518-13A> G single nucleotide variant Benign rs3748959 GRCh38 Chromosome 2, 55881747: 55881747
7 EFEMP1 NM_001039348.2(EFEMP1): c.*6delT deletion Benign rs200536754 GRCh37 Chromosome 2, 56094202: 56094202
8 EFEMP1 NM_001039348.2(EFEMP1): c.*6delT deletion Benign rs200536754 GRCh38 Chromosome 2, 55867067: 55867067
9 EFEMP1 NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=) single nucleotide variant Uncertain significance rs374690853 GRCh37 Chromosome 2, 56094277: 56094277
10 EFEMP1 NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=) single nucleotide variant Uncertain significance rs374690853 GRCh38 Chromosome 2, 55867142: 55867142
11 EFEMP1 NM_001039348.2(EFEMP1): c.1001-14C> T single nucleotide variant Benign rs45535043 GRCh37 Chromosome 2, 56098272: 56098272
12 EFEMP1 NM_001039348.2(EFEMP1): c.1001-14C> T single nucleotide variant Benign rs45535043 GRCh38 Chromosome 2, 55871137: 55871137
13 EFEMP1 NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55849640 GRCh37 Chromosome 2, 56145171: 56145171
14 EFEMP1 NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs55849640 GRCh38 Chromosome 2, 55918036: 55918036
15 EFEMP1 NM_001039348.2(EFEMP1): c.*1088A> C single nucleotide variant Uncertain significance rs886056188 GRCh37 Chromosome 2, 56093120: 56093120
16 EFEMP1 NM_001039348.2(EFEMP1): c.*1088A> C single nucleotide variant Uncertain significance rs886056188 GRCh38 Chromosome 2, 55865985: 55865985
17 EFEMP1 NM_001039348.2(EFEMP1): c.*1004C> G single nucleotide variant Benign rs1802575 GRCh37 Chromosome 2, 56093204: 56093204
18 EFEMP1 NM_001039348.2(EFEMP1): c.*1004C> G single nucleotide variant Benign rs1802575 GRCh38 Chromosome 2, 55866069: 55866069
19 EFEMP1 NM_001039348.2(EFEMP1): c.*946T> C single nucleotide variant Uncertain significance rs886056189 GRCh37 Chromosome 2, 56093262: 56093262
20 EFEMP1 NM_001039348.2(EFEMP1): c.*946T> C single nucleotide variant Uncertain significance rs886056189 GRCh38 Chromosome 2, 55866127: 55866127
21 EFEMP1 NM_001039348.2(EFEMP1): c.*182G> C single nucleotide variant Uncertain significance rs755194729 GRCh38 Chromosome 2, 55866891: 55866891
22 EFEMP1 NM_001039348.2(EFEMP1): c.*182G> C single nucleotide variant Uncertain significance rs755194729 GRCh37 Chromosome 2, 56094026: 56094026
23 EFEMP1 NM_001039348.2(EFEMP1): c.*168A> G single nucleotide variant Likely benign rs1802574 GRCh38 Chromosome 2, 55866905: 55866905
24 EFEMP1 NM_001039348.2(EFEMP1): c.*168A> G single nucleotide variant Likely benign rs1802574 GRCh37 Chromosome 2, 56094040: 56094040
25 EFEMP1 NM_001039348.2(EFEMP1): c.761-16_761-15dupTA duplication Benign rs3838530 GRCh38 Chromosome 2, 55876757: 55876758
26 EFEMP1 NM_001039348.2(EFEMP1): c.761-16_761-15dupTA duplication Benign rs3838530 GRCh37 Chromosome 2, 56103892: 56103893
27 EFEMP1 NM_001039348.2(EFEMP1): c.640+6T> C single nucleotide variant Likely benign rs192467647 GRCh38 Chromosome 2, 55881606: 55881606
28 EFEMP1 NM_001039348.2(EFEMP1): c.640+6T> C single nucleotide variant Likely benign rs192467647 GRCh37 Chromosome 2, 56108741: 56108741
29 EFEMP1 NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=) single nucleotide variant Benign rs35447389 GRCh38 Chromosome 2, 55917936: 55917936
30 EFEMP1 NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=) single nucleotide variant Benign rs35447389 GRCh37 Chromosome 2, 56145071: 56145071
31 EFEMP1 NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=) single nucleotide variant Benign rs12292 GRCh38 Chromosome 2, 55917975: 55917975
32 EFEMP1 NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=) single nucleotide variant Benign rs12292 GRCh37 Chromosome 2, 56145110: 56145110
33 EFEMP1 NM_001039348.2(EFEMP1): c.-16T> A single nucleotide variant Likely benign rs187417918 GRCh38 Chromosome 2, 55922907: 55922907
34 EFEMP1 NM_001039348.2(EFEMP1): c.-16T> A single nucleotide variant Likely benign rs187417918 GRCh37 Chromosome 2, 56150042: 56150042
35 EFEMP1 NM_001039348.2(EFEMP1): c.-88C> T single nucleotide variant Likely benign rs143361440 GRCh38 Chromosome 2, 55923750: 55923750
36 EFEMP1 NM_001039348.2(EFEMP1): c.-88C> T single nucleotide variant Likely benign rs143361440 GRCh37 Chromosome 2, 56150885: 56150885
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.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh37 Chromosome 2, 56151066: 56151066
40 EFEMP1 NM_001039348.2(EFEMP1): c.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh38 Chromosome 2, 55923931: 55923931
41 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh37 Chromosome 2, 56151291: 56151291
42 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh38 Chromosome 2, 55924156: 55924156
43 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh37 Chromosome 2, 56093408: 56093408
44 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh38 Chromosome 2, 55866273: 55866273
45 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh37 Chromosome 2, 56093513: 56093513
46 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh38 Chromosome 2, 55866378: 55866378
47 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh37 Chromosome 2, 56093521: 56093521
48 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh38 Chromosome 2, 55866386: 55866386
49 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh37 Chromosome 2, 56093540: 56093540
50 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh38 Chromosome 2, 55866405: 55866405

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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