DHRD
MCID: FML292
MIFTS: 34

Familial Drusen (DHRD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Drusen

MalaCards integrated aliases for Familial Drusen:

Name: Familial Drusen 58
Malattia Leventinese 58 29 6 70
Doyne Honeycomb Retinal Dystrophy 58 70
Dominant Radial Drusen 58
Dominant Drusen 58
Dhrd 58

Characteristics:

Orphanet epidemiological data:

58
familial drusen
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1832174 C1852020 C1852021
Orphanet 58 ORPHA75376
UMLS 70 C1832174 C1852020

Summaries for Familial Drusen

MalaCards based summary : Familial Drusen, also known as malattia leventinese, is related to doyne honeycomb retinal dystrophy and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Familial Drusen is EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include eye and retina, and related phenotypes are hematopoietic system and immune system

Related Diseases for Familial Drusen

Diseases related to Familial Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 doyne honeycomb retinal dystrophy 32.5 PRPH2 EFEMP1 CFH
2 yemenite deaf-blind hypopigmentation syndrome 30.7 EFEMP1 CFH
3 c3 glomerulopathy 30.5 CFI CFH
4 fundus dystrophy 30.2 PRPH2 EFEMP1 CFH
5 retinal drusen 29.9 EFEMP1 CFI CFH
6 basal laminar drusen 29.6 EFEMP1 CFH
7 macular degeneration, age-related, 1 29.5 PRPH2 EFEMP1 CFI CFH
8 bestrophinopathy, autosomal recessive 11.0
9 inherited retinal disorder 10.8
10 carney complex variant 10.4
11 dowling-degos disease 1 10.2
12 werner syndrome 10.2
13 macular dystrophy, retinal, 1, north carolina type 10.0
14 de novo thrombotic microangiopathy after kidney transplantation 9.9 CFI CFH
15 atypical hemolytic uremic syndrome with complement gene abnormality 9.9 CFI CFH
16 genetic atypical hemolytic-uremic syndrome 9.9 CFI CFH
17 hemolytic-uremic syndrome 9.9 CFI CFH
18 complement factor h deficiency 9.9 CFI CFH
19 cardiomyopathy, dilated, 1l 9.9 EFEMP1 CFH
20 complement deficiency 9.9 CFI CFH
21 cone-rod dystrophy 2 9.9
22 cone-rod dystrophy 7 9.9
23 color vision deficiency 9.9
24 thrombotic thrombocytopenic purpura 9.9 CFI CFH
25 fundus albipunctatus 9.8
26 lyme disease 9.8 CFI CFH
27 hellp syndrome 9.8 CFI CFH
28 hemolytic uremic syndrome, atypical 1 9.8 CFI CFH
29 eye degenerative disease 9.6 PRPH2 CFH
30 night blindness 9.6 PRPH2 EFEMP1
31 glomerulonephritis 9.6 CFI CFH
32 vitelliform macular dystrophy 9.5 PRPH2 EFEMP1 CFH
33 stargardt disease 9.5 PRPH2 EFEMP1 CFH
34 retinal disease 9.5 PRPH2 EFEMP1 CFH
35 eye disease 9.4 PRPH2 CFI CFH
36 degeneration of macula and posterior pole 9.2 PRPH2 EFEMP1 CFI CFH

Graphical network of the top 20 diseases related to Familial Drusen:



Diseases related to Familial Drusen

Symptoms & Phenotypes for Familial Drusen

MGI Mouse Phenotypes related to Familial Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.46 CFH CFI EFEMP1 PRPH2
2 immune system MP:0005387 9.26 CFH CFI EFEMP1 PRPH2
3 pigmentation MP:0001186 8.8 CFH EFEMP1 PRPH2

Drugs & Therapeutics for Familial Drusen

Search Clinical Trials , NIH Clinical Center for Familial Drusen

Genetic Tests for Familial Drusen

Genetic tests related to Familial Drusen:

# Genetic test Affiliating Genes
1 Malattia Leventinese 29

Anatomical Context for Familial Drusen

MalaCards organs/tissues related to Familial Drusen:

40
Eye, Retina

Publications for Familial Drusen

Articles related to Familial Drusen:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. 6 61
22031286 2011
2
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. 61 6
17666404 2007
3
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 6 61
10369267 1999
4
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
5
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. 6
21979047 2011
6
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. 6
21930971 2011
7
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
8
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. 6
20660596 2010
9
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
10
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 6
18252232 2008
11
The common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors. 6
17472578 2007
12
Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction. 6
17396242 2007
13
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 6
17241667 2007
14
Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. 6
17360715 2007
15
The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. 6
17293598 2007
16
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. 6
17398321 2007
17
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. 6
17210858 2007
18
Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. 6
17198853 2007
19
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. 6
17079491 2006
20
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. 6
16936733 2006
21
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. 6
16787919 2006
22
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. 6
16710702 2006
23
Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study. 6
16229850 2006
24
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. 6
16630992 2006
25
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 6
16816528 2006
26
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. 6
15895326 2005
27
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. 6
15870199 2005
28
Complement factor H variant increases the risk of age-related macular degeneration. 6
15761120 2005
29
Complement factor H polymorphism and age-related macular degeneration. 6
15761121 2005
30
Complement factor H polymorphism in age-related macular degeneration. 6
15761122 2005
31
Molecular genetic heterogeneity in autosomal dominant drusen. 6
11389162 2001
32
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. 61
33689237 2021
33
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization. 61
33542268 2021
34
Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation. 61
33019987 2020
35
The Pathophysiological Significance of Fibulin-3. 61
32911658 2020
36
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. 61
31286363 2019
37
The Efemp1R345W Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice. 61
31095679 2019
38
Ranibizumab for the treatment of choroidal neovascularization due to cause other than age related macular degeneration. 61
31779462 2019
39
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. 61
30541486 2018
40
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). 61
30578491 2018
41
Drusen in patient-derived hiPSC-RPE models of macular dystrophies. 61
28878022 2017
42
Choroidal Neovascularization in Malattia Leventinese Diagnosed Using Optical Coherence Tomography Angiography. 61
28088509 2017
43
Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. 61
28264101 2017
44
Mapping wild-type and R345W fibulin-3 intracellular interactomes. 61
27777122 2016
45
Optical Coherence Tomography Angiography Demonstration of Choroidal Neovascularization in Malattia Leventinese. 61
27327295 2016
46
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. 61
26427406 2016
47
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. 61
25389134 2015
48
Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. 61
25481286 2015
49
Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. 61
25077532 2015
50
Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene. 61
25111685 2014

Variations for Familial Drusen

ClinVar genetic disease variations for Familial Drusen:

6 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFH NM_000186.3(CFH):c.1222C>T (p.Gln408Ter) SNV Pathogenic 16560 rs121913061 GRCh37: 1:196659255-196659255
GRCh38: 1:196690125-196690125
2 CFH NM_000186.3(CFH):c.3234G>T (p.Arg1078Ser) SNV Pathogenic 16561 rs121913062 GRCh37: 1:196712682-196712682
GRCh38: 1:196743552-196743552
3 CFH NM_000186.3(CFH):c.350+6T>G SNV Pathogenic 16562 rs387906550 GRCh37: 1:196643098-196643098
GRCh38: 1:196673968-196673968
4 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
5 EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Pathogenic 8072 rs121434491 GRCh37: 2:56098226-56098226
GRCh38: 2:55871091-55871091
6 CFH NM_000186.3(CFH):c.1204= (p.His402=) SNV Pathogenic 16549 rs1061170 GRCh37: 1:196659237-196659237
GRCh38: 1:196690107-196690107
7 EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Likely pathogenic 8072 rs121434491 GRCh37: 2:56098226-56098226
GRCh38: 2:55871091-55871091
8 EFEMP1 NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu) SNV Uncertain significance 849590 GRCh37: 2:56098141-56098141
GRCh38: 2:55871006-55871006
9 CFH NM_000186.3(CFH):c.3028G>A (p.Ala1010Thr) SNV Uncertain significance 451521 rs11539862 GRCh37: 1:196711076-196711076
GRCh38: 1:196741946-196741946
10 CFH NM_000186.4(CFH):c.2763T>C (p.Ser921=) SNV Uncertain significance 875243 GRCh37: 1:196706771-196706771
GRCh38: 1:196737641-196737641
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_001039348.3(EFEMP1):c.1353C>T (p.Leu451=) SNV Uncertain significance 899334 GRCh37: 2:56094337-56094337
GRCh38: 2:55867202-55867202
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 CFH NM_000186.3(CFH):c.-61A>G SNV Uncertain significance 294477 rs886045741 GRCh37: 1:196621187-196621187
GRCh38: 1:196652057-196652057
18 CFH NM_000186.4(CFH):c.3134-5T>C SNV Uncertain significance 875337 GRCh37: 1:196712577-196712577
GRCh38: 1:196743447-196743447
19 CFH NM_000186.4(CFH):c.7C>G (p.Leu3Val) SNV Uncertain significance 875857 GRCh37: 1:196621254-196621254
GRCh38: 1:196652124-196652124
20 CFH NM_000186.4(CFH):c.16A>G (p.Lys6Glu) SNV Uncertain significance 875858 GRCh37: 1:196621263-196621263
GRCh38: 1:196652133-196652133
21 CFH NM_000186.4(CFH):c.879G>A (p.Gln293=) SNV Uncertain significance 875038 GRCh37: 1:196654282-196654282
GRCh38: 1:196685152-196685152
22 CFH NM_000186.4(CFH):c.907C>T (p.Arg303Trp) SNV Uncertain significance 875964 GRCh37: 1:196654310-196654310
GRCh38: 1:196685180-196685180
23 CFH NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) SNV Uncertain significance 875133 GRCh37: 1:196695710-196695710
GRCh38: 1:196726580-196726580
24 CFH NM_000186.4(CFH):c.2596+8G>T SNV Uncertain significance 876153 GRCh37: 1:196706144-196706144
GRCh38: 1:196737014-196737014
25 CFH NM_000186.3(CFH):c.3133+4C>G SNV Uncertain significance 598661 rs374729595 GRCh37: 1:196711185-196711185
GRCh38: 1:196742055-196742055
26 CFH NM_000186.4(CFH):c.3156C>T (p.Pro1052=) SNV Uncertain significance 875390 GRCh37: 1:196712604-196712604
GRCh38: 1:196743474-196743474
27 CFH NM_000186.4(CFH):c.33G>T (p.Met11Ile) SNV Uncertain significance 876852 GRCh37: 1:196621280-196621280
GRCh38: 1:196652150-196652150
28 CFH NM_000186.4(CFH):c.1451C>T (p.Ala484Val) SNV Uncertain significance 876029 GRCh37: 1:196682979-196682979
GRCh38: 1:196713849-196713849
29 EFEMP1 NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln) SNV Uncertain significance 895241 GRCh37: 2:56098139-56098139
GRCh38: 2:55871004-55871004
30 EFEMP1 NM_001039348.3(EFEMP1):c.1062T>C (p.His354=) SNV Uncertain significance 895242 GRCh37: 2:56098197-56098197
GRCh38: 2:55871062-55871062
31 CFH NM_000186.3(CFH):c.-175T>C SNV Uncertain significance 294474 rs762143457 GRCh37: 1:196621073-196621073
GRCh38: 1:196651943-196651943
32 CFH NM_000186.3(CFH):c.103G>A (p.Gly35Ser) SNV Uncertain significance 294479 rs886045742 GRCh37: 1:196642152-196642152
GRCh38: 1:196673022-196673022
33 EFEMP1 NM_001039348.2(EFEMP1):c.-269G>A SNV Uncertain significance 336644 rs886056193 GRCh37: 2:56151066-56151066
GRCh38: 2:55923931-55923931
34 CFH NM_000186.3(CFH):c.*14G>A SNV Uncertain significance 294527 rs463726 GRCh37: 1:196716457-196716457
GRCh38: 1:196747327-196747327
35 EFEMP1 NM_001039348.3(EFEMP1):c.*152G>A SNV Uncertain significance 336619 rs886056190 GRCh37: 2:56094056-56094056
GRCh38: 2:55866921-55866921
36 EFEMP1 NM_001039348.2(EFEMP1):c.-251G>C SNV Uncertain significance 336642 rs886056192 GRCh37: 2:56151048-56151048
GRCh38: 2:55923913-55923913
37 CFH NM_000186.3(CFH):c.275C>T (p.Pro92Leu) SNV Uncertain significance 294481 rs886045743 GRCh37: 1:196643017-196643017
GRCh38: 1:196673887-196673887
38 CFH NM_000186.3(CFH):c.2784C>A (p.Gly928=) SNV Uncertain significance 294508 rs755926856 GRCh37: 1:196709750-196709750
GRCh38: 1:196740620-196740620
39 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
40 CFH NM_000186.3(CFH):c.2461C>T (p.His821Tyr) SNV Uncertain significance 625916 rs367687415 GRCh37: 1:196706001-196706001
GRCh38: 1:196736871-196736871
41 CFH NM_000186.4(CFH):c.*127G>T SNV Uncertain significance 873579 GRCh37: 1:196716570-196716570
GRCh38: 1:196747440-196747440
42 CFH NM_000186.4(CFH):c.172T>G (p.Ser58Ala) SNV Uncertain significance 874052 GRCh37: 1:196642221-196642221
GRCh38: 1:196673091-196673091
43 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
44 CFH NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) SNV Uncertain significance 874263 GRCh37: 1:196697517-196697517
GRCh38: 1:196728387-196728387
45 CFH NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) SNV Uncertain significance 874381 GRCh37: 1:196709910-196709910
GRCh38: 1:196740780-196740780
46 CFH NM_000186.4(CFH):c.2956+13G>A SNV Uncertain significance 874382 GRCh37: 1:196709935-196709935
GRCh38: 1:196740805-196740805
47 CFH NM_000186.4(CFH):c.3291G>A (p.Thr1097=) SNV Uncertain significance 874522 GRCh37: 1:196712739-196712739
GRCh38: 1:196743609-196743609
48 CFH NM_000186.4(CFH):c.245-15T>C SNV Uncertain significance 874979 GRCh37: 1:196642972-196642972
GRCh38: 1:196673842-196673842
49 CFH NM_000186.4(CFH):c.1418C>T (p.Ala473Val) SNV Uncertain significance 875087 GRCh37: 1:196682946-196682946
GRCh38: 1:196713816-196713816
50 CFH NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) SNV Uncertain significance 874264 GRCh37: 1:196697553-196697553
GRCh38: 1:196728423-196728423

Expression for Familial Drusen

Search GEO for disease gene expression data for Familial Drusen.

Pathways for Familial Drusen

GO Terms for Familial Drusen

Biological processes related to Familial Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.96 PRPH2 EFEMP1
2 regulation of complement activation GO:0030449 8.62 CFI CFH

Sources for Familial Drusen

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....