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 endothelial, 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 192)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 29.8 ELOVL4 EFEMP1
2 linear skin defects with multiple congenital anomalies 1 12.2
3 familial drusen 12.0
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 mucolipidosis 11.3
10 anuria 11.3
11 mcleod syndrome 11.2
12 neuraminidase deficiency 11.0
13 infantile recurrent chronic multifocal osteomyolitis 11.0
14 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.9
15 ascites, chylous 10.9
16 spermatogenic failure, y-linked, 2 10.9
17 complement factor i deficiency 10.9
18 microvascular complications of diabetes 3 10.9
19 aromatase deficiency 10.9
20 masp2 deficiency 10.9
21 mannose-binding lectin deficiency 10.9
22 hyperprolactinemia 10.9
23 primary pigmented nodular adrenocortical disease 10.9
24 inclusion-cell disease 10.9
25 orbital disease 10.9
26 hypervitaminosis d 10.9
27 ahumada del castillo syndrome 10.9
28 fundus dystrophy 10.9
29 prostate cancer 10.6
30 prostate cancer, hereditary, 8 10.6
31 prostate cancer, hereditary, 6 10.6
32 hypoglycemia 10.5
33 microphthalmia 10.3
34 prostatic hyperplasia, benign 10.3
35 carney complex variant 10.3
36 prostatic adenoma 10.3
37 leprosy 3 10.2
38 diabetes mellitus 10.2
39 hansen's disease 10.2
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 1 10.0
48 cervical dystonia 10.0
49 ectopic pregnancy 10.0
50 pulpitis 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, Endothelial

Publications for Doyne Honeycomb Retinal Dystrophy

Articles related to Doyne Honeycomb Retinal Dystrophy:

(show all 14)
# 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
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. ( 23281528 )
2012
7
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
8
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. ( 12915309 )
2003
9
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). ( 11913893 )
2002
10
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. ( 10982184 )
2000
11
A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. ( 10369267 )
1999
12
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
13
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). ( 10071196 )
1999
14
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:

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.518-13A> G single nucleotide variant Benign rs3748959 GRCh37 Chromosome 2, 56108882: 56108882
2 EFEMP1 NM_001039348.2(EFEMP1): c.518-13A> G single nucleotide variant Benign rs3748959 GRCh38 Chromosome 2, 55881747: 55881747
3 EFEMP1 NM_001039348.2(EFEMP1): c.*6delT deletion Benign rs200536754 GRCh37 Chromosome 2, 56094202: 56094202
4 EFEMP1 NM_001039348.2(EFEMP1): c.*6delT deletion Benign rs200536754 GRCh38 Chromosome 2, 55867067: 55867067
5 EFEMP1 NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=) single nucleotide variant Uncertain significance rs374690853 GRCh37 Chromosome 2, 56094277: 56094277
6 EFEMP1 NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=) single nucleotide variant Uncertain significance rs374690853 GRCh38 Chromosome 2, 55867142: 55867142
7 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh37 Chromosome 2, 56098226: 56098226
8 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh38 Chromosome 2, 55871091: 55871091
9 EFEMP1 NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=) single nucleotide variant Benign rs14282 GRCh37 Chromosome 2, 56144930: 56144930
10 EFEMP1 NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=) single nucleotide variant Benign rs14282 GRCh38 Chromosome 2, 55917795: 55917795
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 GRCh38 Chromosome 2, 55865985: 55865985
16 EFEMP1 NM_001039348.2(EFEMP1): c.*1088A> C single nucleotide variant Uncertain significance rs886056188 GRCh37 Chromosome 2, 56093120: 56093120
17 EFEMP1 NM_001039348.2(EFEMP1): c.*1004C> G single nucleotide variant Benign rs1802575 GRCh38 Chromosome 2, 55866069: 55866069
18 EFEMP1 NM_001039348.2(EFEMP1): c.*1004C> G single nucleotide variant Benign rs1802575 GRCh37 Chromosome 2, 56093204: 56093204
19 EFEMP1 NM_001039348.2(EFEMP1): c.*946T> C single nucleotide variant Uncertain significance rs886056189 GRCh38 Chromosome 2, 55866127: 55866127
20 EFEMP1 NM_001039348.2(EFEMP1): c.*946T> C single nucleotide variant Uncertain significance rs886056189 GRCh37 Chromosome 2, 56093262: 56093262
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 GRCh38 Chromosome 2, 55923858: 55923858
38 EFEMP1 NM_001039348.2(EFEMP1): c.-196C> T single nucleotide variant Benign rs3762514 GRCh37 Chromosome 2, 56150993: 56150993
39 EFEMP1 NM_001039348.2(EFEMP1): c.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh38 Chromosome 2, 55923931: 55923931
40 EFEMP1 NM_001039348.2(EFEMP1): c.-269G> A single nucleotide variant Uncertain significance rs886056193 GRCh37 Chromosome 2, 56151066: 56151066
41 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh38 Chromosome 2, 55924156: 55924156
42 EFEMP1 NM_001039348.2(EFEMP1): c.-494C> G single nucleotide variant Uncertain significance rs886056194 GRCh37 Chromosome 2, 56151291: 56151291
43 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh38 Chromosome 2, 55866273: 55866273
44 EFEMP1 NM_001039348.2(EFEMP1): c.*800C> T single nucleotide variant Likely benign rs146101049 GRCh37 Chromosome 2, 56093408: 56093408
45 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh38 Chromosome 2, 55866378: 55866378
46 EFEMP1 NM_001039348.2(EFEMP1): c.*695T> C single nucleotide variant Likely benign rs3791680 GRCh37 Chromosome 2, 56093513: 56093513
47 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh38 Chromosome 2, 55866386: 55866386
48 EFEMP1 NM_001039348.2(EFEMP1): c.*687T> C single nucleotide variant Likely benign rs138843899 GRCh37 Chromosome 2, 56093521: 56093521
49 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh38 Chromosome 2, 55866405: 55866405
50 EFEMP1 NM_001039348.2(EFEMP1): c.*668C> T single nucleotide variant Likely benign rs573892776 GRCh37 Chromosome 2, 56093540: 56093540

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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