DHRD
MCID: DYN002
MIFTS: 44

Doyne Honeycomb Retinal Dystrophy (DHRD)

Categories: Eye diseases, Genetic diseases, Neuronal 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 20 72 36 29 54 6 44 15 70
Doyne Honeycomb Degeneration of Retina 57 12 20 13
Dhrd 57 12 20 72
Malattia Leventinese 72 70
Dhd 57 20
Doyne Honeycomb Degeneration of Retina; Dhd 57
Dystrophy, Retinal, Doyne Honeycomb 39
Mlvt 72
Ml 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? same as drusen of bruch membrane


HPO:

31
doyne honeycomb retinal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060745
OMIM® 57 126600
KEGG 36 H02110
MeSH 44 C535602
ICD10 32 H35.5
UMLS 70 C1832174 C1852020

Summaries for Doyne Honeycomb Retinal Dystrophy

OMIM® : 57 Doyne honeycomb retinal dystrophy (DHRD) is characterized by drusen deposits at the level of the Bruck membrane in the macula and around the edge of the optic nerve head. The drusen are large, soft, external to the basement membrane of the retinal pigment epithelium (RPE), and occupy the entire thickness of the Bruch membrane. In contrast, in malattia leventinese (MLVT) small discrete drusen radiate into the peripheral retina, with the later development of confluent soft drusen in the macula. Radial drusen extending into the periphery had not been described in DHRD (summary by Gregory et al., 1996). Hulleman et al. (2011) noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (ARMD), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life. (126600) (Updated 20-May-2021)

MalaCards based summary : Doyne Honeycomb Retinal Dystrophy, also known as doyne honeycomb degeneration of retina, is related to familial drusen and c3 glomerulopathy. 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 Elastic fibre formation and G-protein signaling_Rap2B regulation pathway. 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.

GARD : 20 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.

KEGG : 36 Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. It is usually detected in early adult life and rarely in childhood-onset cases. Based on different patterns of drusen (radia patternl in ML or honeycomb pattern in DHRD) and other phenotypic variability, ML and DHRD were considered separate entities until 1999 when a single mutation in the gene EFEMP1 was found to be responsible for both conditions.

UniProtKB/Swiss-Prot : 72 Doyne honeycomb retinal dystrophy: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.

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 102)
# Related Disease Score Top Affiliating Genes
1 familial drusen 32.9 PRPH2 EFEMP1 CFH
2 c3 glomerulopathy 31.1 CFHR2 CFH
3 yemenite deaf-blind hypopigmentation syndrome 31.1 EFEMP1 CFH ABCA4
4 basal laminar drusen 29.8 HMCN1 FBLN5 EFEMP1 CFH BEST1 ARMS2
5 fundus dystrophy 29.4 TIMP3 PRPH2 HMCN1 ERCC6 ELOVL4 EGF
6 retinal drusen 28.9 TIMP3 HMCN1 FBLN5 FBLN1 ERCC6 ELOVL4
7 macular degeneration, age-related, 1 28.7 TIMP3 PRPH2 HMCN1 FBLN5 ERCC6 ELOVL4
8 inherited retinal disorder 10.8
9 carney complex variant 10.4
10 ureteric orifice cancer 10.4 FBLN5 EFEMP2
11 tricuspid valve prolapse 10.4 FBLN5 EFEMP2
12 cutis laxa, autosomal recessive, type iia 10.4 FBLN5 EFEMP2
13 fbln5-related cutis laxa 10.3 FBLN5 EFEMP2
14 autosomal recessive cutis laxa type iii 10.3 FBLN5 EFEMP2
15 exudative glomerulonephritis 10.3 CFHR2 CFH
16 cutis laxa, autosomal recessive, type ic 10.3 FBLN5 EFEMP2
17 cutis laxa, autosomal recessive, type iib 10.3 FBLN5 EFEMP2
18 bladder diverticulum 10.3 FBLN5 EFEMP2 EFEMP1
19 dense deposit disease 10.3 CFHR2 CFH
20 cutis laxa, autosomal recessive, type ib 10.3 FBLN5 EFEMP2
21 partial central choroid dystrophy 10.3 PRPH2 ABCA4
22 multifocal choroiditis 10.3 CFH ARMS2
23 hereditary choroidal atrophy 10.3 PRPH2 ABCA4
24 vitreoretinal dystrophy 10.3 FBLN1 CRYAA
25 central serous chorioretinopathy 10.3 CFH ARMS2
26 cutis laxa 10.3 FBLN5 EFEMP2 EFEMP1
27 bullous retinoschisis 10.3 CFH ARMS2
28 interval angle-closure glaucoma 10.3 BEST1 ABCA4
29 stargardt disease 3 10.2 ELOVL4 ABCA4
30 entropion 10.2 FBLN5 CRYAA
31 dowling-degos disease 1 10.2
32 werner syndrome 10.2
33 cutis laxa, autosomal recessive, type ia 10.2 FBLN5 EFEMP2
34 nonsyndromic retinitis pigmentosa 10.2 BEST1 ABCA4
35 toxic maculopathy 10.2 ARMS2 ABCA4
36 congenital nervous system abnormality 10.2 ERCC6 CRYAA CFHR2
37 chorioretinal scar 10.2 BEST1 ABCA4
38 orbital disease 10.2 ERCC6 CRYAA
39 color vision deficiency 10.2
40 stargardt macular degeneration 10.2 PRPH2 ELOVL4 ABCA4
41 degenerative myopia 10.2 CFH ARMS2
42 choroidal dystrophy, central areolar, 1 10.2 TIMP3 PRPH2 ABCA4
43 angioid streaks 10.2 CFHR2 CFH ARMS2
44 peripheral retinal degeneration 10.2 PRPH2 BEST1 ABCA4
45 isolated macular dystrophy 10.2 PRPH2 BEST1 ABCA4
46 bestrophinopathy, autosomal recessive 10.2 PRPH2 BEST1 ABCA4
47 cone-rod dystrophy 3 10.2 ERCC6 CRYAA ABCA4
48 choroid disease 10.2 PRPH2 BEST1 ABCA4
49 macular retinal edema 10.2 CRYAA CFH BEST1
50 complement component 3 deficiency 10.2 CFHR2 CFH

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:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 retinal dystrophy 31 HP:0000556
3 reticular pigmentary degeneration 31 HP:0007937

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
honeycomb retinal degeneration
small round white retinal spots
failing vision

Clinical features from OMIM®:

126600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.91 EFEMP1 EFEMP2 EGF ELOVL4 ERCC6 FBLN1
2 muscle MP:0005369 9.7 CFH EFEMP1 EFEMP2 ERCC6 FBLN1 FBLN5
3 pigmentation MP:0001186 9.5 ABCA4 BEST1 CFH EFEMP1 ELOVL4 PRPH2
4 vision/eye MP:0005391 9.4 ABCA4 BEST1 CFH EFEMP1 EFEMP2 EGF

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:

40
Retina, Eye, Endothelial, Colon

Publications for Doyne Honeycomb Retinal Dystrophy

Articles related to Doyne Honeycomb Retinal Dystrophy:

(show top 50) (show all 52)
# Title Authors PMID Year
1
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. 61 57 6 54
17666404 2007
2
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 54 61 6 57
10369267 1999
3
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. 6 57 61
22031286 2011
4
Molecular genetic heterogeneity in autosomal dominant drusen. 57 6
11389162 2001
5
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. 61 57
10087203 1999
6
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). 57 61
10071196 1999
7
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. 61 57
8817347 1996
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
9
Expression of extradomain-B-containing fibronectin in subretinal choroidal neovascular membranes. 57
12504690 2003
10
Genetic heterogeneity in Malattia Leventinese. 57
12431256 2002
11
Photodynamic therapy with verteporfin in mallatia leventinese. 57
11825812 2002
12
Dominant radial drusen and Arg345Trp EFEMP1 mutation. 57
11384588 2001
13
Macular dystrophy of malattia leventinese. A 25 year follow up. 57
10636647 1999
14
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. 57
8573024 1996
15
Dominantly inherited drusen represent more than one disorder: a historical review. 57
7713248 1995
16
Doyne's honeycomb retinal degeneration. Clinical and genetic features. 57
5642678 1968
17
[Clinical and histological study of the disease of Leventina. Disease belonging to the group of hyaline degenerescences of the posterior pole]. 57
13894102 1962
18
On Macula-degeneration. 57
18910124 1948
19
Analysis of the EFEMP1 gene in individuals and families with early onset drusen. 61 54
15218514 2005
20
Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. 61 54
12427233 2002
21
EFEMP1 is not associated with sporadic early onset drusen. 61 54
11262647 2001
22
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. 61 54
10982184 2000
23
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. 61
33689237 2021
24
Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane. 61
33526522 2021
25
The Pathophysiological Significance of Fibulin-3. 61
32911658 2020
26
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. 61
30626431 2019
27
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. 61
30541486 2018
28
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. 61
29730901 2018
29
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). 61
30578491 2018
30
Drusen in patient-derived hiPSC-RPE models of macular dystrophies. 61
28878022 2017
31
Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. 61
28264101 2017
32
The Danish Cardiac Rehabilitation Database. 61
27822083 2016
33
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. 61
26427406 2016
34
Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. 61
25077532 2015
35
Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene. 61
25111685 2014
36
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
37
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. 61
23943789 2014
38
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. 61
23281528 2012
39
Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy. 61
22159686 2011
40
[Maculopathy with subretinal yellow deposits]. 61
21267723 2011
41
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). 61
20206286 2010
42
A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. 61
19850834 2010
43
Misfolded proteins and retinal dystrophies. 61
20238009 2010
44
Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression. 61
16249470 2005
45
Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. 61
15512998 2004
46
Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy. 61
12915309 2003
47
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). 61
11913893 2002
48
Genetic susceptibility to age related macular degeneration. 61
10662806 2000
49
Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes. 61
10585764 1999
50
Comparative DNA cross-linking by activated pyrrolizidine alkaloids. 61
10478830 1999

Variations for Doyne Honeycomb Retinal Dystrophy

ClinVar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Pathogenic 8072 rs121434491 GRCh37: 2:56098226-56098226
GRCh38: 2:55871091-55871091
2 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
3 EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Likely pathogenic 8072 rs121434491 GRCh37: 2:56098226-56098226
GRCh38: 2:55871091-55871091
4 EFEMP1 NM_001039348.2(EFEMP1):c.-494C>G SNV Uncertain significance 336648 rs886056194 GRCh37: 2:56151291-56151291
GRCh38: 2:55924156-55924156
5 EFEMP1 NM_001039348.3(EFEMP1):c.*182G>C SNV Uncertain significance 336617 rs755194729 GRCh37: 2:56094026-56094026
GRCh38: 2:55866891-55866891
6 EFEMP1 NM_001039348.3(EFEMP1):c.963C>T (p.Pro321=) SNV Uncertain significance 336623 rs769842736 GRCh37: 2:56102118-56102118
GRCh38: 2:55874983-55874983
7 EFEMP1 NM_001039348.3(EFEMP1):c.*146T>A SNV Uncertain significance 336620 rs540522685 GRCh37: 2:56094062-56094062
GRCh38: 2:55866927-55866927
8 EFEMP1 NM_001039348.2(EFEMP1):c.-269G>A SNV Uncertain significance 336644 rs886056193 GRCh37: 2:56151066-56151066
GRCh38: 2:55923931-55923931
9 EFEMP1 NM_001039348.3(EFEMP1):c.*946T>C SNV Uncertain significance 336610 rs886056189 GRCh37: 2:56093262-56093262
GRCh38: 2:55866127-55866127
10 EFEMP1 NM_001039348.3(EFEMP1):c.*152G>A SNV Uncertain significance 336619 rs886056190 GRCh37: 2:56094056-56094056
GRCh38: 2:55866921-55866921
11 EFEMP1 NM_001039348.3(EFEMP1):c.195T>C (p.Tyr65=) SNV Uncertain significance 896672 GRCh37: 2:56145122-56145122
GRCh38: 2:55917987-55917987
12 EFEMP1 NM_001039348.3(EFEMP1):c.*349A>T SNV Uncertain significance 898223 GRCh37: 2:56093859-56093859
GRCh38: 2:55866724-55866724
13 EFEMP1 NM_001039348.2(EFEMP1):c.-251G>C SNV Uncertain significance 336642 rs886056192 GRCh37: 2:56151048-56151048
GRCh38: 2:55923913-55923913
14 EFEMP1 NM_001039348.3(EFEMP1):c.1000+9del Deletion Uncertain significance 336622 rs886056191 GRCh37: 2:56102072-56102072
GRCh38: 2:55874937-55874937
15 EFEMP1 NM_001039348.3(EFEMP1):c.761-28TA[9] Microsatellite Uncertain significance 336625 rs3838530 GRCh37: 2:56103891-56103892
GRCh38: 2:55876756-55876757
16 EFEMP1 NM_001039348.3(EFEMP1):c.*1088A>C SNV Uncertain significance 336605 rs886056188 GRCh37: 2:56093120-56093120
GRCh38: 2:55865985-55865985
17 EFEMP1 NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln) SNV Uncertain significance 895241 GRCh37: 2:56098139-56098139
GRCh38: 2:55871004-55871004
18 EFEMP1 NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu) SNV Uncertain significance 849590 GRCh37: 2:56098141-56098141
GRCh38: 2:55871006-55871006
19 EFEMP1 NM_001039348.3(EFEMP1):c.1062T>C (p.His354=) SNV Uncertain significance 895242 GRCh37: 2:56098197-56098197
GRCh38: 2:55871062-55871062
20 EFEMP1 NM_001039348.3(EFEMP1):c.1353C>T (p.Leu451=) SNV Uncertain significance 899334 GRCh37: 2:56094337-56094337
GRCh38: 2:55867202-55867202
21 EFEMP1 NM_001039348.2(EFEMP1):c.-464C>T SNV Likely benign 336647 rs72811724 GRCh37: 2:56151261-56151261
GRCh38: 2:55924126-55924126
22 EFEMP1 NM_001039348.3(EFEMP1):c.981G>A (p.Val327=) SNV Likely benign 895243 GRCh37: 2:56102100-56102100
GRCh38: 2:55874965-55874965
23 EFEMP1 NM_001039348.3(EFEMP1):c.1386C>T (p.Ile462=) SNV Likely benign 899333 GRCh37: 2:56094304-56094304
GRCh38: 2:55867169-55867169
24 EFEMP1 NM_001039348.3(EFEMP1):c.134T>C (p.Ile45Thr) SNV Likely benign 336632 rs746396165 GRCh37: 2:56145183-56145183
GRCh38: 2:55918048-55918048
25 EFEMP1 NM_001039348.3(EFEMP1):c.401G>A (p.Arg134Gln) SNV Likely benign 896671 GRCh37: 2:56144916-56144916
GRCh38: 2:55917781-55917781
26 EFEMP1 NM_001039348.2(EFEMP1):c.-136C>G SNV Likely benign 336640 rs577899468 GRCh37: 2:56150933-56150933
GRCh38: 2:55923798-55923798
27 EFEMP1 NM_001039348.2(EFEMP1):c.-261C>A SNV Likely benign 336643 rs561867060 GRCh37: 2:56151058-56151058
GRCh38: 2:55923923-55923923
28 EFEMP1 NM_001039348.3(EFEMP1):c.732A>G (p.Gln244=) SNV Likely benign 336626 rs199622147 GRCh37: 2:56104909-56104909
GRCh38: 2:55877774-55877774
29 EFEMP1 NM_001039348.3(EFEMP1):c.*962C>A SNV Benign 336609 rs77386452 GRCh37: 2:56093246-56093246
GRCh38: 2:55866111-55866111
30 EFEMP1 NM_001039348.3(EFEMP1):c.*1063G>A SNV Benign 336606 rs112334283 GRCh37: 2:56093145-56093145
GRCh38: 2:55866010-55866010
31 EFEMP1 NM_001039348.2(EFEMP1):c.-460C>A SNV Benign 336646 rs79563212 GRCh37: 2:56151257-56151257
GRCh38: 2:55924122-55924122
32 EFEMP1 NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) SNV Benign 283832 rs55849640 GRCh37: 2:56145171-56145171
GRCh38: 2:55918036-55918036
33 EFEMP1 NM_001039348.2(EFEMP1):c.-368G>C SNV Benign 336645 rs111619737 GRCh37: 2:56151165-56151165
GRCh38: 2:55924030-55924030
34 EFEMP1 NM_001039348.3(EFEMP1):c.*668C>T SNV Benign 336614 rs573892776 GRCh37: 2:56093540-56093540
GRCh38: 2:55866405-55866405
35 EFEMP1 NM_001039348.3(EFEMP1):c.518-11G>A SNV Benign 336628 rs73940333 GRCh37: 2:56108880-56108880
GRCh38: 2:55881745-55881745
36 EFEMP1 NM_001039348.3(EFEMP1):c.-67G>A SNV Benign 336637 rs3762515 GRCh37: 2:56150864-56150864
GRCh38: 2:55923729-55923729
37 EFEMP1 NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln) SNV Benign 336621 rs146446706 GRCh37: 2:56098015-56098015
GRCh38: 2:55870880-55870880
38 EFEMP1 NM_001039348.3(EFEMP1):c.-52A>G SNV Benign 336634 rs10167115 GRCh37: 2:56150849-56150849
GRCh38: 2:55923714-55923714
39 EFEMP1 NM_001039348.3(EFEMP1):c.*800C>T SNV Benign 336611 rs146101049 GRCh37: 2:56093408-56093408
GRCh38: 2:55866273-55866273
40 EFEMP1 NM_001039348.3(EFEMP1):c.*1004C>G SNV Benign 336608 rs1802575 GRCh37: 2:56093204-56093204
GRCh38: 2:55866069-55866069
41 EFEMP1 NM_001039348.3(EFEMP1):c.*695T>C SNV Benign 336612 rs3791680 GRCh37: 2:56093513-56093513
GRCh38: 2:55866378-55866378
42 EFEMP1 NM_001039348.3(EFEMP1):c.*168A>G SNV Benign 336618 rs1802574 GRCh37: 2:56094040-56094040
GRCh38: 2:55866905-55866905
43 EFEMP1 NM_001039348.3(EFEMP1):c.246A>G (p.Glu82=) SNV Benign 336630 rs35447389 GRCh37: 2:56145071-56145071
GRCh38: 2:55917936-55917936
44 EFEMP1 NM_001039348.3(EFEMP1):c.*649C>T SNV Benign 336615 rs186888998 GRCh37: 2:56093559-56093559
GRCh38: 2:55866424-55866424
45 EFEMP1 NM_001039348.3(EFEMP1):c.518-13A>G SNV Benign 167031 rs3748959 GRCh37: 2:56108882-56108882
GRCh38: 2:55881747-55881747
46 EFEMP1 NM_001039348.3(EFEMP1):c.-88C>T SNV Benign 336638 rs143361440 GRCh37: 2:56150885-56150885
GRCh38: 2:55923750-55923750
47 EFEMP1 NM_001039348.3(EFEMP1):c.1001-14C>T SNV Benign 257227 rs45535043 GRCh37: 2:56098272-56098272
GRCh38: 2:55871137-55871137
48 EFEMP1 NM_001039348.3(EFEMP1):c.-60G>A SNV Benign 336635 rs192789765 GRCh37: 2:56150857-56150857
GRCh38: 2:55923722-55923722
49 EFEMP1 NM_001039348.3(EFEMP1):c.207C>A (p.Leu69=) SNV Benign 336631 rs12292 GRCh37: 2:56145110-56145110
GRCh38: 2:55917975-55917975
50 EFEMP1 NM_001039348.3(EFEMP1):c.*248A>C SNV Benign 336616 rs117386259 GRCh37: 2:56093960-56093960
GRCh38: 2:55866825-55866825

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

72
# Symbol AA change Variation ID SNP ID
1 EFEMP1 p.Arg345Trp VAR_009513 rs121434491

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
10.79 FBLN5 FBLN1 EFEMP2 EFEMP1
2 10.26 TIMP3 EGF EFEMP2 EFEMP1 ECM1

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 exosome GO:0070062 10.03 HMCN1 FBLN5 FBLN1 EGF EFEMP2 EFEMP1
2 extracellular region GO:0005576 9.96 TIMP3 HMCN1 FBLN5 FBLN1 EGF EFEMP2
3 extracellular space GO:0005615 9.92 TIMP3 FBLN5 FBLN1 EGF EFEMP2 EFEMP1
4 extracellular matrix GO:0031012 9.63 TIMP3 FBLN5 FBLN1 EFEMP2 EFEMP1 ECM1
5 basement membrane GO:0005604 9.54 HMCN1 FBLN1 EFEMP2
6 collagen-containing extracellular matrix GO:0062023 9.5 TIMP3 HMCN1 FBLN5 FBLN1 EFEMP2 EFEMP1
7 platelet dense granule lumen GO:0031089 9.4 TIMP3 ECM1
8 elastic fiber GO:0071953 8.8 FBLN5 FBLN1 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.43 TIMP3 EGF ECM1
2 response to stimulus GO:0050896 9.43 TIMP3 PRPH2 HMCN1 CRYAA BEST1 ABCA4
3 detection of light stimulus involved in visual perception GO:0050908 9.32 PRPH2 BEST1
4 visual perception GO:0007601 9.17 TIMP3 PRPH2 HMCN1 EFEMP1 CRYAA BEST1
5 elastic fiber assembly GO:0048251 9.16 FBLN5 EFEMP2

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 9.5 PCDHGA12 HMCN1 FBLN5 FBLN1 EGF EFEMP2
2 protein C-terminus binding GO:0008022 9.46 FBLN5 FBLN1 ERCC6 ECM1
3 extracellular matrix structural constituent GO:0005201 9.02 HMCN1 FBLN1 EFEMP2 EFEMP1 ECM1

Sources for Doyne Honeycomb Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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