Doyne Honeycomb Retinal Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

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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:

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Symptoms & Phenotypes for Doyne Honeycomb Retinal Dystrophy

Human phenotypes related to Doyne Honeycomb Retinal Dystrophy:

³⁰

#	Description	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

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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

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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

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Anatomical Context for Doyne Honeycomb Retinal Dystrophy

Organs/tissues related to Doyne Honeycomb Retinal Dystrophy:

MalaCards : Retina, Eye, Endothelial, Heart

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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	Fu L...Pierce EA	17666404	2007
2	A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. ⁵³ ⁶² ⁵⁷ ⁵	Stone EM...Schorderet DF	10369267	1999
3	Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. ⁶² ⁵⁷ ⁵	Hulleman JD...Kelly JW	22031286	2011
4	Molecular genetic heterogeneity in autosomal dominant drusen. ⁵⁷ ⁵	Tarttelin EE...Gregory-Evans K	11389162	2001
5	Genetic heterogeneity in Malattia Leventinese. ⁶² ⁵⁷	Toto L...Romano M	12431256	2002
6	Dominant radial drusen and Arg345Trp EFEMP1 mutation. ⁶² ⁵⁷	Matsumoto M...Traboulsi EI	11384588	2001
7	Macular dystrophy of malattia leventinese. A 25 year follow up. ⁶² ⁵⁷	Zech JC...Trepsat C	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	Taymans SE...Stratakis CA	10087203	1999
9	Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). ⁶² ⁵⁷	Kermani S...Gregory-Evans CY	10071196	1999
10	The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. ⁶² ⁵⁷	Gregory CY...Bhattacharya SS	8817347	1996
11	Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. ⁶² ⁵⁷	Heon E...Stone EM	8573024	1996
12	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
13	Expression of extradomain-B-containing fibronectin in subretinal choroidal neovascular membranes. ⁵⁷	Nicolo M...Zardi L	12504690	2003
14	Photodynamic therapy with verteporfin in mallatia leventinese. ⁵⁷	Dantas MA...Yannuzzi LA	11825812	2002
15	Dominantly inherited drusen represent more than one disorder: a historical review. ⁵⁷	Piguet B...Bird AC	7713248	1995
16	Doyne's honeycomb retinal degeneration. Clinical and genetic features. ⁵⁷	Pearce WG	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	FORNI S...BABEL J	13894102	1962
18	On Macula-degeneration. ⁵⁷	WAARDENBURG PJ	18910124	1948
19	Analysis of the EFEMP1 gene in individuals and families with early onset drusen. ⁵³ ⁶²	Narendran N...Baird PN	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	Guymer RH...Baird PN	12427233	2002
21	EFEMP1 is not associated with sporadic early onset drusen. ⁵³ ⁶²	Sauer CG...Weber BH	11262647	2001
22	Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. ⁵³ ⁶²	Katsanis N...Lupski JR	10982184	2000
23	Spatiotemporal variation and removal of selected endocrine-disrupting chemicals in wastewater treatment plants across China: Treatment process comparison. ⁶²	Yu Q...Geng J	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	Crowley MA...Liao SM	35943778	2022
25	EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. ⁶²	Collantes ERA...Wiggs JL	34923728	2022
26	The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy. ⁶²	Enomoto N...Mori R	34822027	2022
27	Malattia leventinese (familial dominant drusen). ⁶²	Tabuenca Del Barrio L...Sarasate Zabalza MJ	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	Kjesbu I...Sibilitz KL	36342928	2022
29	Diagnostic definition of malattia leventinese in a family from Colombia ⁶²	Gelvez N...Tamayo ML	34559486	2021
30	Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature. ⁶²	Konstantinou EK...Ramsey DJ	34353225	2021
31	Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration. ⁶²	Tsai YT...Tsang SH	33909993	2021
32	First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. ⁶²	Sheyanth IN...Petersen MB	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	Parameswarappa DC...Rani PK	33526522	2021
34	Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization. ⁶²	Woodard DR...Hulleman JD	33542268	2021
35	Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation. ⁶²	Vaclavik V...Schorderet Md PhD DF	33019987	2020
36	The Pathophysiological Significance of Fibulin-3. ⁶²	Livingstone I...Wiberg A	32911658	2020
37	The Efemp1R345W Macular Dystrophy Mutation Causes Amplified Circadian and Photophobic Responses to Light in Mice. ⁶²	Thompson S...Stasheff SF	31095679	2019
38	Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. ⁶²	Cusumano A...Marshall J	30626431	2019
39	Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. ⁶²	Zhang K...Hong F	30541486	2018
40	HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. ⁶²	Lin MK...Tsang SH	29730901	2018
41	Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). ⁶²	Tsang SH...Sharma T	30578491	2018
42	Drusen in patient-derived hiPSC-RPE models of macular dystrophies. ⁶²	Galloway CA...Singh R	28878022	2017
43	Choroidal Neovascularization in Malattia Leventinese Diagnosed Using Optical Coherence Tomography Angiography. ⁶²	Serra R...Souied E	28088509	2017
44	Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. ⁶²	Stanton JB...Marmorstein LY	28264101	2017
45	Mapping wild-type and R345W fibulin-3 intracellular interactomes. ⁶²	Hulleman JD...Nguyen A	27777122	2016
46	Optical Coherence Tomography Angiography Demonstration of Choroidal Neovascularization in Malattia Leventinese. ⁶²	Corbelli E...Querques G	27327295	2016
47	Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. ⁶²	Hulleman JD	26427406	2016
48	The Danish Cardiac Rehabilitation Database. ⁶²	Zwisler AD...May O	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	Hulleman JD...Kelly JW	25389134	2015
50	Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. ⁶²	Nguyen A...Hulleman JD	25481286	2015

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Genes for Doyne Honeycomb Retinal Dystrophy

Genes related to Doyne Honeycomb Retinal Dystrophy (2 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EFEMP1	EGF Containing Fibulin Extracellular Matrix Protein 1	Protein Coding	975.16	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10369267 11389162 17666404 (more) 22031286 33546218 12427233 11262647 10982184 15218514
2	PRPH2	Peripherin 2	Protein Coding	405.43	Pathogenic ⁵ DISEASES inferred ¹⁴
3	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
4	CFHR2	Complement Factor H Related 2	Protein Coding	7.4	DISEASES inferred ¹⁴ ¹⁴
5	FBLN5	Fibulin 5	Protein Coding	6.66	DISEASES inferred ¹⁴
6	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	6.44	DISEASES inferred ¹⁴ ¹⁴
7	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	6.28	DISEASES inferred ¹⁴
8	HMCN1	Hemicentin 1	Protein Coding	6.11	DISEASES inferred ¹⁴
9	ECM1	Extracellular Matrix Protein 1	Protein Coding	6.06	DISEASES inferred ¹⁴
10	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	6.04	DISEASES inferred ¹⁴
11	BEST1	Bestrophin 1	Protein Coding	6.01	DISEASES inferred ¹⁴
12	FBLN1	Fibulin 1	Protein Coding	5.96	DISEASES inferred ¹⁴
13	CFH	Complement Factor H	Protein Coding	5.85	DISEASES inferred ¹⁴
14	ARMS2	Age-Related Maculopathy Susceptibility 2	Protein Coding	5.72	DISEASES inferred ¹⁴
15	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	5.65	DISEASES inferred ¹⁴
16	EGF	Epidermal Growth Factor	Protein Coding	5.13	DISEASES inferred ¹⁴
17	PCDHGA12	Protocadherin Gamma Subfamily A, 12	Protein Coding	5.1	DISEASES inferred ¹⁴
18	FBLN7	Fibulin 7	Protein Coding	5.07	DISEASES inferred ¹⁴
19	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	5.03	DISEASES inferred ¹⁴
20	HTRA1	HtrA Serine Peptidase 1	Protein Coding	4.71	DISEASES inferred ¹⁴
21	AGBL5	AGBL Carboxypeptidase 5	Protein Coding	4.69	DISEASES inferred ¹⁴
22	ZNF736	Zinc Finger Protein 736	Protein Coding	4.68	DISEASES inferred ¹⁴
23	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	4.63	DISEASES inferred ¹⁴
24	VSX2	Visual System Homeobox 2	Protein Coding	4.63	DISEASES inferred ¹⁴

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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

Sources

Expression for Doyne Honeycomb Retinal Dystrophy

Search GEO for disease gene expression data for Doyne Honeycomb Retinal Dystrophy.

Sources

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	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12	HTRA1 FBLN5 FBLN1 EFEMP2 EFEMP1
2	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	10.83	FBLN5 FBLN1 EFEMP2 EFEMP1
3	G-protein signaling_Rap2B regulation pathway ²²	10.46	TIMP3 EGF EFEMP2 EFEMP1 ECM1

Sources

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

Sources for Doyne Honeycomb Retinal Dystrophy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

DHRD MCID: DYN002 MIFTS: 46	Doyne Honeycomb Retinal Dystrophy (DHRD) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Doyne Honeycomb Retinal Dystrophy (DHRD)

Aliases & Classifications for Doyne Honeycomb Retinal Dystrophy

MalaCards integrated aliases for Doyne Honeycomb Retinal Dystrophy:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Doyne Honeycomb Retinal Dystrophy

Related Diseases for Doyne Honeycomb Retinal Dystrophy

Diseases related to Doyne Honeycomb Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Doyne Honeycomb Retinal Dystrophy:

Symptoms & Phenotypes for Doyne Honeycomb Retinal Dystrophy

Human phenotypes related to Doyne Honeycomb Retinal Dystrophy:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Doyne Honeycomb Retinal Dystrophy:

Drugs & Therapeutics for Doyne Honeycomb Retinal Dystrophy

Cochrane evidence based reviews: doyne honeycomb retinal dystrophy

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Genes related to Doyne Honeycomb Retinal Dystrophy (2 elite genes):

Variations for Doyne Honeycomb Retinal Dystrophy

ClinVar genetic disease variations for Doyne Honeycomb Retinal Dystrophy:

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

Expression for Doyne Honeycomb Retinal Dystrophy

Pathways for Doyne Honeycomb Retinal Dystrophy

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

GO Terms for Doyne Honeycomb Retinal Dystrophy

Cellular components related to Doyne Honeycomb Retinal Dystrophy according to GeneCards Suite gene sharing:

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

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

Sources for Doyne Honeycomb Retinal Dystrophy