MCID: DYN001
MIFTS: 35

Doyne Honeycomb Degeneration of Retina

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Doyne Honeycomb Degeneration of Retina

MalaCards integrated aliases for Doyne Honeycomb Degeneration of Retina:

Name: Doyne Honeycomb Degeneration of Retina 54 12 50 13
Doyne Honeycomb Retinal Dystrophy 12 50 24 71 29 52 14 69
Malattia Leventinese 24 71 29 69
Dhrd 12 50 24 71
Mlvt 71
Dhd 50
Ml 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
? same as drusen of bruch membrane


HPO:

32
doyne honeycomb degeneration of retina:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 126600
Disease Ontology 12 DOID:0060745
ICD10 33 H35.5

Summaries for Doyne Honeycomb Degeneration of Retina

NIH Rare Diseases : 50 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. last updated: 10/20/2014

MalaCards based summary : Doyne Honeycomb Degeneration of Retina, also known as doyne honeycomb retinal dystrophy, is related to inclusion-cell disease and mucolipidosis iii alpha/beta, and has symptoms including visual impairment, retinal dystrophy and reticular pigmentary degeneration. An important gene associated with Doyne Honeycomb Degeneration of Retina is EFEMP1 (EGF Containing Fibulin Like Extracellular Matrix Protein 1), and among its related pathways/superpathways is Phospholipase-C Pathway. Affiliated tissues include retina and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation

Disease Ontology : 12 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has material basis in mutations in the EFEMP1 gene on chromosome 2p16.

UniProtKB/Swiss-Prot : 71 Doyne honeycomb retinal dystrophy: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.

Description from OMIM: 126600

Related Diseases for Doyne Honeycomb Degeneration of Retina

Diseases related to Doyne Honeycomb Degeneration of Retina via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 11.7
2 mucolipidosis iii alpha/beta 11.7
3 linear skin defects with multiple congenital anomalies 1 11.6
4 mucolipidosis iv 11.5
5 mucolipidoses 11.1
6 anuria 11.0
7 mucolipidosis iii gamma 11.0
8 mcleod syndrome with or without chronic granulomatous disease 10.9
9 infantile recurrent chronic multifocal osteomyolitis 10.7
10 sialidosis, type i 10.7
11 spermatogenic failure, y-linked, 2 10.7
12 chronic infections, due to mbl deficiency 10.7
13 aromatase deficiency 10.7
14 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 10.7
15 masp2 deficiency 10.7
16 primary pigmented nodular adrenocortical disease 10.7
17 retinitis 10.6
18 prostatitis 10.5
19 prostate cancer 10.3
20 microphthalmia 10.1
21 endotheliitis 10.1
22 choroiditis 10.1
23 melanoma 10.0
24 impetigo 9.9 EFEMP1 TIMP3
25 tuberculous peritonitis 9.8 EFEMP1 TIMP3
26 adenocarcinoma 9.8
27 dystonia 9.8
28 cervical dystonia 9.8
29 adenoma 9.8
30 cervicitis 9.8
31 prostatic adenoma 9.8
32 pulpitis 9.7
33 ocular albinism 9.7
34 peritonitis 9.7
35 prostate adenocarcinoma 9.7
36 albinism 9.7
37 hypertropia 9.6 EFEMP1 TIMP3
38 leprosy 9.5
39 leukodystrophy 9.5
40 acute graft versus host disease 9.5
41 celiac disease 9.5
42 amelogenesis imperfecta 9.5
43 turner syndrome 9.5
44 bone fracture 9.5
45 methemoglobinemia 9.5
46 mycobacterium marinum 9.5
47 cystic fibrosis 9.5
48 seminoma 9.5
49 severe combined immunodeficiency 9.5
50 pancreatitis 9.5

Graphical network of the top 20 diseases related to Doyne Honeycomb Degeneration of Retina:



Diseases related to Doyne Honeycomb Degeneration of Retina

Symptoms & Phenotypes for Doyne Honeycomb Degeneration of Retina

Symptoms via clinical synopsis from OMIM:

54

Eyes:
honeycomb retinal degeneration
small round white retinal spots
failing vision


Clinical features from OMIM:

126600

Human phenotypes related to Doyne Honeycomb Degeneration of Retina:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 retinal dystrophy 32 HP:0000556
3 reticular pigmentary degeneration 32 HP:0007937

GenomeRNAi Phenotypes related to Doyne Honeycomb Degeneration of Retina according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.6 TIMP3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 EFEMP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 TIMP3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 TIMP3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.6 GPR75
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 GPR75
7 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 EFEMP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.6 GPR75
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 GPR75
10 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.6 TIMP3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 GPR75 TIMP3 EFEMP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 EFEMP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 EFEMP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.6 TIMP3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.6 GPR75
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 TIMP3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.6 GPR75

MGI Mouse Phenotypes related to Doyne Honeycomb Degeneration of Retina:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 EFEMP1 ELOVL4 TIMP3

Drugs & Therapeutics for Doyne Honeycomb Degeneration of Retina

Search Clinical Trials , NIH Clinical Center for Doyne Honeycomb Degeneration of Retina

Genetic Tests for Doyne Honeycomb Degeneration of Retina

Genetic tests related to Doyne Honeycomb Degeneration of Retina:

id Genetic test Affiliating Genes
1 Doyne Honeycomb Retinal Dystrophy 29 24 EFEMP1
2 Malattia Leventinese 29

Anatomical Context for Doyne Honeycomb Degeneration of Retina

MalaCards organs/tissues related to Doyne Honeycomb Degeneration of Retina:

39
Retina, Eye

Publications for Doyne Honeycomb Degeneration of Retina

Variations for Doyne Honeycomb Degeneration of Retina

UniProtKB/Swiss-Prot genetic disease variations for Doyne Honeycomb Degeneration of Retina:

71
id Symbol AA change Variation ID SNP ID
1 EFEMP1 p.Arg345Trp VAR_009513 rs121434491

ClinVar genetic disease variations for Doyne Honeycomb Degeneration of Retina:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh37 Chromosome 2, 56098226: 56098226

Expression for Doyne Honeycomb Degeneration of Retina

Search GEO for disease gene expression data for Doyne Honeycomb Degeneration of Retina.

Pathways for Doyne Honeycomb Degeneration of Retina

Pathways related to Doyne Honeycomb Degeneration of Retina according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 ECM1 EFEMP1 TIMP3

GO Terms for Doyne Honeycomb Degeneration of Retina

Cellular components related to Doyne Honeycomb Degeneration of Retina according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.33 ECM1 EFEMP1 TIMP3
2 extracellular matrix GO:0031012 9.13 ECM1 EFEMP1 TIMP3
3 platelet dense granule lumen GO:0031089 8.62 ECM1 TIMP3

Biological processes related to Doyne Honeycomb Degeneration of Retina according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of peptidase activity GO:0010466 8.96 ECM1 TIMP3
2 platelet degranulation GO:0002576 8.62 ECM1 TIMP3

Molecular functions related to Doyne Honeycomb Degeneration of Retina according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 ECM1 TIMP3

Sources for Doyne Honeycomb Degeneration of Retina

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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