DHRD
MCID: DYN001
MIFTS: 31

Doyne Honeycomb Degeneration of Retina (DHRD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Doyne Honeycomb Degeneration of Retina

Aliases & Descriptions for Doyne Honeycomb Degeneration of Retina:

Name: Doyne Honeycomb Degeneration of Retina 54 12 50 13
Doyne Honeycomb Retinal Dystrophy 12 50 24 66 29 52 14 69
Malattia Leventinese 24 66 29 69
Dhrd 12 50 24 66
Mlvt 66
Dhd 50
Ml 66

Characteristics:

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 mucolipidosis iii alpha/beta and inclusion-cell disease, 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). Affiliated tissues include retina and eye, and related phenotype is 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 : 66 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 mucolipidosis iii alpha/beta 11.8
2 inclusion-cell disease 11.7
3 linear skin defects with multiple congenital anomalies 1 11.5
4 mucolipidosis iv 11.5
5 familial drusen 11.4
6 mucolipidosis ii alpha/beta 11.1
7 anuria 11.1
8 mucolipidosis iii gamma 11.0
9 mcleod syndrome with or without chronic granulomatous disease 10.9
10 mucolipidoses 10.9
11 spermatogenic failure, y-linked, 2 10.7
12 infantile recurrent chronic multifocal osteomyolitis 10.7
13 sialidosis, type i 10.7
14 chronic infections, due to mbl deficiency 10.7
15 retinitis 10.6
16 prostatitis 10.5
17 prostate cancer 10.3
18 microphthalmia 10.1
19 endotheliitis 10.1
20 choroiditis 10.1
21 melanoma 10.0
22 autosomal dominant congenital stationary night blindness 10.0 ABCA4 ELOVL4
23 retinitis pigmentosa 19 9.9 ABCA4 ELOVL4
24 adult liposarcoma 9.9 ABCA4 ELOVL4
25 puerperal pulmonary embolism 9.9 ABCA4 EFEMP1
26 tendinosis 9.9 ABCA4 ELOVL4
27 placental choriocarcinoma 9.8 ABCA4 EFEMP1 ELOVL4
28 adenoma 9.8
29 cervical dystonia 9.8
30 cervicitis 9.8
31 prostatic adenoma 9.8
32 adenocarcinoma 9.8
33 dystonia 9.8
34 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 ABCA4 EFEMP1 ELOVL4
35 ocular albinism 9.7
36 peritonitis 9.7
37 prostate adenocarcinoma 9.7
38 albinism 9.7
39 pulpitis 9.7
40 pancreatic mucinous cystadenoma 9.5
41 autism spectrum disorder 9.5
42 relapsing-remitting multiple sclerosis 9.5
43 lymphoma 9.5
44 ovarian cancer 9.5
45 ocular hypertension 9.5
46 metachromatic leukodystrophy 9.5
47 persistent generalized lymphadenopathy 9.5
48 encephalitis 9.5
49 colorectal cancer 9.5
50 ectopic pregnancy 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 by clinical synopsis from OMIM:

126600

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

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 ABCA4 EFEMP1 ELOVL4

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:

66
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

GO Terms for Doyne Honeycomb Degeneration of Retina

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 ABCA4 EFEMP1

Sources for Doyne Honeycomb Degeneration of Retina

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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