DHRD
MCID: DYN002
MIFTS: 46

Doyne Honeycomb Retinal Dystrophy (DHRD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

MalaCards integrated aliases for Doyne Honeycomb Retinal Dystrophy:

Name: Doyne Honeycomb Retinal Dystrophy 57 11 19 73 28 53 5 43 14 71
Doyne Honeycomb Degeneration of Retina 57 11 19 12
Dhrd 57 11 19 73
Malattia Leventinese 73 71
Dhd 57 19
Dystrophy, Retinal, Doyne Honeycomb 38
Mlvt 73
Ml 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0060745
OMIM® 57 126600
MeSH 43 C535602
ICD10 31 H35.5
UMLS 71 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 08-Dec-2022)

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 Extracellular matrix organization and Elastic fibre formation. Affiliated tissues include retina, eye and endothelial, and related phenotypes are visual impairment and retinal dystrophy

GARD: 19 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. The degree of vision loss also varies. DHRD is usually caused by genetic changes in the EFEMP1 gene and is inherited in an autosomal dominant manner.

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: 73 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 114)
# Related Disease Score Top Affiliating Genes
1 familial drusen 33.0 EFEMP1 CFH
2 c3 glomerulopathy 31.1 CFHR2 CFH
3 basal laminar drusen 29.7 TIMP3 PRPH2 HMCN1 FBLN5 EFEMP1 CFH
4 retinal disease 29.7 RLBP1 PRPH2 ERCC6 CFHR2 CFH BEST1
5 fundus dystrophy 29.3 TIMP3 RLBP1 PRPH2 HTRA1 HMCN1 FBLN5
6 macular degeneration, age-related, 1 28.8 TIMP3 RLBP1 PRPH2 HTRA1 HMCN1 FBLN5
7 retinal drusen 28.7 TIMP3 PRPH2 HMCN1 FBLN5 FBLN1 ERCC6
8 inherited retinal disorder 10.9
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
10 carney complex variant 10.4
11 autosomal recessive cutis laxa type iii 10.4 FBLN5 EFEMP2
12 ureteric orifice cancer 10.3 FBLN5 EFEMP2
13 cutis laxa, autosomal dominant 2 10.3 FBLN5 EFEMP2
14 patterned macular dystrophy 10.3 PRPH2 BEST1
15 macular dystrophy, vitelliform, 3 10.3 PRPH2 BEST1
16 cutis laxa, autosomal recessive, type iia 10.3 FBLN5 EFEMP2
17 cutis laxa, autosomal recessive, type ic 10.3 FBLN5 EFEMP2
18 macular dystrophy, vitelliform, 2 10.3 PRPH2 BEST1
19 cutis laxa 10.3 FBLN5 EFEMP2 EFEMP1
20 cutis laxa, autosomal recessive, type iib 10.3 FBLN5 EFEMP2
21 macular dystrophy, patterned, 1 10.3 PRPH2 BEST1
22 bladder diverticulum 10.3 FBLN5 EFEMP2 EFEMP1
23 relapsing fever 10.3 CFHR2 CFH
24 inguinal hernia 10.3 FBLN5 EFEMP2 EFEMP1
25 vitreoretinal dystrophy 10.3 FBLN1 BEST1
26 partial central choroid dystrophy 10.3 PRPH2 ABCA4
27 ehlers-danlos syndrome, vascular type 10.3 FBLN5 EFEMP2
28 stargardt disease 3 10.3 ELOVL4 ABCA4
29 hereditary choroidal atrophy 10.3 PRPH2 ABCA4
30 macular dystrophy, patterned, 2 10.3 PRPH2 BEST1
31 werner syndrome 10.3
32 interval angle-closure glaucoma 10.2 BEST1 ABCA4
33 chorioretinal scar 10.2 BEST1 ABCA4
34 central serous chorioretinopathy 10.2 CFH ARMS2
35 aortic dissection 10.2 TIMP3 FBLN5 EFEMP2
36 newfoundland rod-cone dystrophy 10.2 RLBP1 PRPH2
37 color blindness 10.2
38 acute poststreptococcal glomerulonephritis 10.2 CFHR2 CFH
39 degenerative myopia 10.2 CFH ARMS2
40 progressive cone dystrophy 10.2 PRPH2 ABCA4
41 optic disk drusen 10.2 EFEMP1 BEST1 ABCA4
42 tick-borne relapsing fever 10.2 HTRA1 CFHR2
43 isolated macular dystrophy 10.2 PRPH2 BEST1 ABCA4
44 retinitis pigmentosa 19 10.2 ELOVL4 ABCA4
45 immune-complex glomerulonephritis 10.2 CFHR2 CFH
46 stargardt disease 1 10.2 PRPH2 BEST1 ABCA4
47 macular dystrophy, dominant cystoid 10.2 BEST1 ABCA4
48 cutis laxa, autosomal recessive, type ib 10.2 FBLN7 FBLN5 EFEMP2
49 choroideremia 10.2 PRPH2 BEST1 ABCA4
50 meningococcal meningitis 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 30 HP:0000505
2 retinal dystrophy 30 HP:0000556
3 reticular pigmentary degeneration 30 HP:0007937

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
honeycomb retinal degeneration
small round white retinal spots
failing vision

Clinical features from OMIM®:

126600 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ABCA4 BEST1 CFH CFHR2 ECM1 EFEMP1
2 no effect GR00402-S-2 10.11 ABCA4 CFH CFHR2 EFEMP1 EGF ELOVL4

MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.92 ABCA4 BEST1 CFH EFEMP1 ELOVL4 PRPH2
2 cardiovascular system MP:0005385 9.85 ABCA4 CFH EFEMP1 EFEMP2 FBLN1 FBLN5
3 muscle MP:0005369 9.8 CFH EFEMP1 EFEMP2 ERCC6 FBLN1 FBLN5
4 vision/eye MP:0005391 9.8 ABCA4 BEST1 CFH EFEMP1 EFEMP2 EGF
5 integument MP:0010771 9.32 EFEMP1 EFEMP2 EGF ELOVL4 ERCC6 FBLN1

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 28 EFEMP1

Anatomical Context for Doyne Honeycomb Retinal Dystrophy

Organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

MalaCards : Retina, Eye, Endothelial, Heart

Publications for Doyne Honeycomb Retinal Dystrophy

Articles related to Doyne Honeycomb Retinal Dystrophy:

(show top 50) (show all 96)
# Title Authors PMID Year
1
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. 53 62 57 5
17666404 2007
2
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 53 62 57 5
10369267 1999
3
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. 62 57 5
22031286 2011
4
Molecular genetic heterogeneity in autosomal dominant drusen. 57 5
11389162 2001
5
Genetic heterogeneity in Malattia Leventinese. 62 57
12431256 2002
6
Dominant radial drusen and Arg345Trp EFEMP1 mutation. 62 57
11384588 2001
7
Macular dystrophy of malattia leventinese. A 25 year follow up. 62 57
10636647 1999
8
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. 62 57
10087203 1999
9
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). 62 57
10071196 1999
10
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. 62 57
8817347 1996
11
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. 62 57
8573024 1996
12
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
13
Expression of extradomain-B-containing fibronectin in subretinal choroidal neovascular membranes. 57
12504690 2003
14
Photodynamic therapy with verteporfin in mallatia leventinese. 57
11825812 2002
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. 53 62
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. 53 62
12427233 2002
21
EFEMP1 is not associated with sporadic early onset drusen. 53 62
11262647 2001
22
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. 53 62
10982184 2000
23
Spatiotemporal variation and removal of selected endocrine-disrupting chemicals in wastewater treatment plants across China: Treatment process comparison. 62
35461936 2022
24
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration. 62
35943778 2022
25
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. 62
34923728 2022
26
The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy. 62
34822027 2022
27
Malattia leventinese (familial dominant drusen). 62
34844779 2022
28
Socioeconomic and ethnical disparity in coronary heart disease outcomes in Denmark and the effect of cardiac rehabilitation-A nationwide registry study. 62
36342928 2022
29
Diagnostic definition of malattia leventinese in a family from Colombia 62
34559486 2021
30
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature. 62
34353225 2021
31
Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration. 62
33909993 2021
32
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. 62
33689237 2021
33
Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane. 62
33526522 2021
34
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization. 62
33542268 2021
35
Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation. 62
33019987 2020
36
The Pathophysiological Significance of Fibulin-3. 62
32911658 2020
37
The Efemp1R345W Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice. 62
31095679 2019
38
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. 62
30626431 2019
39
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. 62
30541486 2018
40
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. 62
29730901 2018
41
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). 62
30578491 2018
42
Drusen in patient-derived hiPSC-RPE models of macular dystrophies. 62
28878022 2017
43
Choroidal Neovascularization in Malattia Leventinese Diagnosed Using Optical Coherence Tomography Angiography. 62
28088509 2017
44
Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. 62
28264101 2017
45
Mapping wild-type and R345W fibulin-3 intracellular interactomes. 62
27777122 2016
46
Optical Coherence Tomography Angiography Demonstration of Choroidal Neovascularization in Malattia Leventinese. 62
27327295 2016
47
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. 62
26427406 2016
48
The Danish Cardiac Rehabilitation Database. 62
27822083 2016
49
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. 62
25389134 2015
50
Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. 62
25481286 2015

Variations for Doyne Honeycomb Retinal Dystrophy

ClinVar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

5 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic
98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
2 EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Likely Pathogenic
8072 rs121434491 GRCh37: 2:56098226-56098226
GRCh38: 2:55871091-55871091
3 EFEMP1 NM_001039348.2(EFEMP1):c.-494C>G SNV Uncertain Significance
336648 rs886056194 GRCh37: 2:56151291-56151291
GRCh38: 2:55924156-55924156
4 EFEMP1 NM_001039348.3(EFEMP1):c.*349A>T SNV Uncertain Significance
898223 rs1294065580 GRCh37: 2:56093859-56093859
GRCh38: 2:55866724-55866724
5 EFEMP1 NM_001039348.3(EFEMP1):c.1353C>T (p.Leu451=) SNV Uncertain Significance
899334 rs1399879099 GRCh37: 2:56094337-56094337
GRCh38: 2:55867202-55867202
6 EFEMP1 NM_001039348.3(EFEMP1):c.761-28TA[9] MICROSAT Uncertain Significance
336625 rs3838530 GRCh37: 2:56103891-56103892
GRCh38: 2:55876756-55876757
7 EFEMP1 NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu) SNV Uncertain Significance
849590 rs762143333 GRCh37: 2:56098141-56098141
GRCh38: 2:55871006-55871006
8 EFEMP1 NM_001039348.3(EFEMP1):c.1062T>C (p.His354=) SNV Uncertain Significance
895242 rs1208704909 GRCh37: 2:56098197-56098197
GRCh38: 2:55871062-55871062
9 EFEMP1 NM_001039348.2(EFEMP1):c.-269G>A SNV Uncertain Significance
336644 rs886056193 GRCh37: 2:56151066-56151066
GRCh38: 2:55923931-55923931
10 EFEMP1 NM_001039348.2(EFEMP1):c.-251G>C SNV Uncertain Significance
336642 rs886056192 GRCh37: 2:56151048-56151048
GRCh38: 2:55923913-55923913
11 EFEMP1 NM_001039348.3(EFEMP1):c.*146T>A SNV Uncertain Significance
336620 rs540522685 GRCh37: 2:56094062-56094062
GRCh38: 2:55866927-55866927
12 EFEMP1 NM_001039348.3(EFEMP1):c.*182G>C SNV Uncertain Significance
336617 rs755194729 GRCh37: 2:56094026-56094026
GRCh38: 2:55866891-55866891
13 EFEMP1 NM_001039348.3(EFEMP1):c.963C>T (p.Pro321=) SNV Uncertain Significance
336623 rs769842736 GRCh37: 2:56102118-56102118
GRCh38: 2:55874983-55874983
14 EFEMP1 NM_001039348.3(EFEMP1):c.*946T>C SNV Uncertain Significance
336610 rs886056189 GRCh37: 2:56093262-56093262
GRCh38: 2:55866127-55866127
15 EFEMP1 NM_001039348.3(EFEMP1):c.*152G>A SNV Uncertain Significance
336619 rs886056190 GRCh37: 2:56094056-56094056
GRCh38: 2:55866921-55866921
16 EFEMP1 NM_001039348.3(EFEMP1):c.1000+9del DEL Uncertain Significance
336622 rs886056191 GRCh37: 2:56102072-56102072
GRCh38: 2:55874937-55874937
17 EFEMP1 NM_001039348.3(EFEMP1):c.*1088A>C SNV Uncertain Significance
336605 rs886056188 GRCh37: 2:56093120-56093120
GRCh38: 2:55865985-55865985
18 EFEMP1 NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln) SNV Uncertain Significance
895241 rs774225644 GRCh37: 2:56098139-56098139
GRCh38: 2:55871004-55871004
19 EFEMP1 NM_001039348.3(EFEMP1):c.195T>C (p.Tyr65=) SNV Uncertain Significance
896672 rs142572513 GRCh37: 2:56145122-56145122
GRCh38: 2:55917987-55917987
20 EFEMP1 NM_001039348.3(EFEMP1):c.732A>G (p.Gln244=) SNV Likely Benign
336626 rs199622147 GRCh37: 2:56104909-56104909
GRCh38: 2:55877774-55877774
21 EFEMP1 NM_001039348.2(EFEMP1):c.-261C>A SNV Likely Benign
336643 rs561867060 GRCh37: 2:56151058-56151058
GRCh38: 2:55923923-55923923
22 EFEMP1 NM_001039348.2(EFEMP1):c.-136C>G SNV Likely Benign
336640 rs577899468 GRCh37: 2:56150933-56150933
GRCh38: 2:55923798-55923798
23 EFEMP1 NM_001039348.2(EFEMP1):c.-464C>T SNV Likely Benign
336647 rs72811724 GRCh37: 2:56151261-56151261
GRCh38: 2:55924126-55924126
24 EFEMP1 NM_001039348.3(EFEMP1):c.981G>A (p.Val327=) SNV Likely Benign
895243 rs770999988 GRCh37: 2:56102100-56102100
GRCh38: 2:55874965-55874965
25 EFEMP1 NM_001039348.3(EFEMP1):c.401G>A (p.Arg134Gln) SNV Likely Benign
896671 rs748310171 GRCh37: 2:56144916-56144916
GRCh38: 2:55917781-55917781
26 EFEMP1 NM_001039348.3(EFEMP1):c.1386C>T (p.Ile462=) SNV Likely Benign
899333 rs759287964 GRCh37: 2:56094304-56094304
GRCh38: 2:55867169-55867169
27 EFEMP1 NM_001039348.3(EFEMP1):c.134T>C (p.Ile45Thr) SNV Likely Benign
336632 rs746396165 GRCh37: 2:56145183-56145183
GRCh38: 2:55918048-55918048
28 EFEMP1 NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=) SNV Benign
93482 rs14282 GRCh37: 2:56144930-56144930
GRCh38: 2:55917795-55917795
29 EFEMP1 NM_001039348.3(EFEMP1):c.518-11G>A SNV Benign
336628 rs73940333 GRCh37: 2:56108880-56108880
GRCh38: 2:55881745-55881745
30 EFEMP1 NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln) SNV Benign
336621 rs146446706 GRCh37: 2:56098015-56098015
GRCh38: 2:55870880-55870880
31 EFEMP1 NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) SNV Benign
283832 rs55849640 GRCh37: 2:56145171-56145171
GRCh38: 2:55918036-55918036
32 EFEMP1 NM_001039348.2(EFEMP1):c.-368G>C SNV Benign
336645 rs111619737 GRCh37: 2:56151165-56151165
GRCh38: 2:55924030-55924030
33 EFEMP1 NM_001039348.3(EFEMP1):c.81+20G>C SNV Benign
1168191 GRCh37: 2:56149475-56149475
GRCh38: 2:55922340-55922340
34 EFEMP1 NM_001039348.3(EFEMP1):c.1000+19del DEL Benign
1168267 GRCh37: 2:56102062-56102062
GRCh38: 2:55874927-55874927
35 EFEMP1 NM_001039348.2(EFEMP1):c.-460C>A SNV Benign
336646 rs79563212 GRCh37: 2:56151257-56151257
GRCh38: 2:55924122-55924122
36 EFEMP1 NM_001039348.2(EFEMP1):c.-196C>T SNV Benign
336641 rs3762514 GRCh37: 2:56150993-56150993
GRCh38: 2:55923858-55923858
37 EFEMP1 NM_001039348.3(EFEMP1):c.246A>G (p.Glu82=) SNV Benign
336630 rs35447389 GRCh37: 2:56145071-56145071
GRCh38: 2:55917936-55917936
38 EFEMP1 NM_001039348.3(EFEMP1):c.518-13A>G SNV Benign
167031 rs3748959 GRCh37: 2:56108882-56108882
GRCh38: 2:55881747-55881747
39 EFEMP1 NM_001039348.3(EFEMP1):c.1001-14C>T SNV Benign
257227 rs45535043 GRCh37: 2:56098272-56098272
GRCh38: 2:55871137-55871137
40 EFEMP1 NM_001039348.3(EFEMP1):c.761-28TA[8] MICROSAT Benign
336624 rs3838530 GRCh37: 2:56103891-56103892
GRCh38: 2:55876756-55876757
41 EFEMP1 NM_001039348.3(EFEMP1):c.640+6T>C SNV Benign
336627 rs192467647 GRCh37: 2:56108741-56108741
GRCh38: 2:55881606-55881606
42 EFEMP1 NM_001039348.3(EFEMP1):c.489C>T (p.Tyr163=) SNV Benign
336629 rs761107410 GRCh37: 2:56144828-56144828
GRCh38: 2:55917693-55917693
43 EFEMP1 NM_001039348.3(EFEMP1):c.207C>A (p.Leu69=) SNV Benign
336631 rs12292 GRCh37: 2:56145110-56145110
GRCh38: 2:55917975-55917975
44 EFEMP1 NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) SNV Benign
194014 rs374690853 GRCh37: 2:56094277-56094277
GRCh38: 2:55867142-55867142
45 EFEMP1 NM_001039348.3(EFEMP1):c.*507C>T SNV Benign
898222 rs188698134 GRCh37: 2:56093701-56093701
GRCh38: 2:55866566-55866566
46 EFEMP1 NM_001039348.3(EFEMP1):c.-105C>T SNV Benign
336639 rs558071999 GRCh37: 2:56150902-56150902
GRCh38: 2:55923767-55923767
47 EFEMP1 NM_001039348.3(EFEMP1):c.-64C>T SNV Benign
336636 rs3762516 GRCh37: 2:56150861-56150861
GRCh38: 2:55923726-55923726
48 EFEMP1 NM_001039348.3(EFEMP1):c.*248A>C SNV Benign
336616 rs117386259 GRCh37: 2:56093960-56093960
GRCh38: 2:55866825-55866825
49 EFEMP1 NM_001039348.3(EFEMP1):c.*1026C>T SNV Benign
336607 rs540075808 GRCh37: 2:56093182-56093182
GRCh38: 2:55866047-55866047
50 EFEMP1 NM_001039348.3(EFEMP1):c.*687T>C SNV Benign
336613 rs138843899 GRCh37: 2:56093521-56093521
GRCh38: 2:55866386-55866386

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

73
# 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
12 HTRA1 FBLN5 FBLN1 EFEMP2 EFEMP1
2
Show member pathways
10.83 FBLN5 FBLN1 EFEMP2 EFEMP1
3 10.46 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 space GO:0005615 10.34 TIMP3 HTRA1 FBLN7 FBLN5 FBLN1 EGF
2 extracellular region GO:0005576 10.3 CFH CFHR2 ECM1 EFEMP1 EFEMP2 EGF
3 basement membrane GO:0005604 9.97 TIMP3 HMCN1 FBLN1 EFEMP2
4 extracellular matrix GO:0031012 9.8 ECM1 EFEMP1 EFEMP2 FBLN1 FBLN5 FBLN7
5 elastic fiber GO:0071953 9.63 FBLN5 FBLN1 EFEMP2
6 collagen-containing extracellular matrix GO:0062023 9.53 TIMP3 HTRA1 HMCN1 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 response to stimulus GO:0050896 9.5 TIMP3 RLBP1 PRPH2 HMCN1 BEST1 ABCA4
2 visual perception GO:0007601 9.47 TIMP3 RLBP1 PRPH2 HMCN1 EFEMP1 BEST1
3 elastic fiber assembly GO:0048251 9.46 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.86 FBLN5 FBLN1 ERCC6 ECM1
2 calcium ion binding GO:0005509 9.86 EFEMP1 EFEMP2 EGF FBLN1 FBLN5 FBLN7
3 complement component C3b binding GO:0001851 9.62 CFHR2 CFH
4 11-cis retinal binding GO:0005502 9.46 RLBP1 ABCA4
5 extracellular matrix structural constituent GO:0005201 9.32 HMCN1 FBLN1 EFEMP2 EFEMP1 ECM1

Sources for Doyne Honeycomb Retinal Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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