BED
MCID: BRN041
MIFTS: 36

Bornholm Eye Disease (BED)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Bornholm Eye Disease

MalaCards integrated aliases for Bornholm Eye Disease:

Name: Bornholm Eye Disease 57 58 13 70
Myopia, High, with Nonprogressive Cone Dysfunction 57
X-Linked Cone Dysfunction Syndrome with Myopia 58
Bed 57

Characteristics:

Orphanet epidemiological data:

58
x-linked cone dysfunction syndrome with myopia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
color vision defects may not be part of the phenotype


HPO:

31
bornholm eye disease:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 300843
ICD10 via Orphanet 33 H53.8
UMLS via Orphanet 71 C3159311
Orphanet 58 ORPHA90001
MedGen 41 C3159311
UMLS 70 C3159311

Summaries for Bornholm Eye Disease

OMIM® : 57 Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990). (300843) (Updated 20-May-2021)

MalaCards based summary : Bornholm Eye Disease, also known as myopia, high, with nonprogressive cone dysfunction, is related to cone dystrophy and myopia. An important gene associated with Bornholm Eye Disease is BED (Bornholm Eye Disease), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Retinoid cycle disease events. Affiliated tissues include eye, heart and liver, and related phenotypes are abnormality of retinal pigmentation and amblyopia

Related Diseases for Bornholm Eye Disease

Diseases related to Bornholm Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 957)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 29.6 OPN1MW OPN1LW
2 myopia 29.1 OPN1MW OPN1LW MYP1
3 eating disorder 11.1
4 pulmonary embolism 11.0
5 sleep disorder 11.0
6 nail disorder, nonsyndromic congenital, 3 11.0
7 nail disorder, nonsyndromic congenital, 8 11.0
8 tinea unguium 11.0
9 chronic fatigue syndrome 11.0
10 back pain 11.0
11 decubitus ulcer 10.9
12 pure autonomic failure 10.9
13 leishmaniasis 10.9
14 respiratory failure 10.9
15 benign paroxysmal positional nystagmus 10.9
16 rheumatoid arthritis 10.9
17 diabetes insipidus 10.8
18 fibromuscular dysplasia 10.8
19 brachydactyly, type d 10.8
20 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.8
21 dementia, lewy body 10.8
22 fibromuscular dysplasia, arterial 10.8
23 nail disorder, nonsyndromic congenital, 1 10.8
24 nail disorder, nonsyndromic congenital, 4 10.8
25 neuropathy, hereditary sensory and autonomic, type iii 10.8
26 hemihyperplasia, isolated 10.8
27 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.8
28 ectodermal dysplasia, hidrotic, christianson-fourie type 10.8
29 nanophthalmos 4 10.8
30 autosomal dominant nocturnal frontal lobe epilepsy 10.8
31 dopamine beta-hydroxylase deficiency 10.8
32 dengue disease 10.8
33 primary hypertrophic osteoarthropathy 10.8
34 malaria 10.6
35 methane production 10.5
36 orthostatic intolerance 10.5
37 pre-eclampsia 10.5
38 sudden infant death syndrome 10.5
39 chronic ulcer of skin 10.4
40 bone resorption disease 10.4
41 anxiety 10.4
42 eclampsia 10.3
43 rapidly involuting congenital hemangioma 10.3
44 triiodothyronine receptor auxiliary protein 10.3
45 pulmonary tuberculosis 10.3
46 pulmonary hypertension 10.3
47 sleep apnea 10.3
48 hypoxia 10.3
49 portal hypertension 10.3
50 thyroid carcinoma 10.2

Graphical network of the top 20 diseases related to Bornholm Eye Disease:



Diseases related to Bornholm Eye Disease

Symptoms & Phenotypes for Bornholm Eye Disease

Human phenotypes related to Bornholm Eye Disease:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 31 HP:0007703
2 amblyopia 31 HP:0000646
3 astigmatism 31 HP:0000483
4 optic nerve hypoplasia 31 HP:0000609
5 high myopia 31 HP:0011003
6 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
7 deuteranopia 31 HP:0011521
8 protanopia 31 HP:0011522

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
amblyopia
astigmatism
optic nerve hypoplasia
deuteranopia
protanopia
more

Clinical features from OMIM®:

300843 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Bornholm Eye Disease according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.4 OPN1LW OPN1MW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.4 OPN1MW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.4 OPN1LW
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.4 OPN1LW
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.4 OPN1MW
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 9.4 OPN1MW
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.4 OPN1LW
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.4 OPN1LW
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.4 OPN1LW
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.4 OPN1LW
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 9.4 OPN1MW

Drugs & Therapeutics for Bornholm Eye Disease

Search Clinical Trials , NIH Clinical Center for Bornholm Eye Disease

Genetic Tests for Bornholm Eye Disease

Anatomical Context for Bornholm Eye Disease

MalaCards organs/tissues related to Bornholm Eye Disease:

40
Eye, Heart, Liver, Thyroid, Bone, Brain, Kidney

Publications for Bornholm Eye Disease

Articles related to Bornholm Eye Disease:

(show all 13)
# Title Authors PMID Year
1
X-linked cone dysfunction syndrome with myopia and protanopia. 57 61
15953640 2005
2
X-linked high myopia associated with cone dysfunction. 61 57
15197065 2004
3
X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. 57 61
1980096 1990
4
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 57
21357393 2011
5
Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. 57
19098318 2009
6
X-linked myopia in Danish family. 57
3264103 1988
7
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. 61
32860923 2020
8
Differential stability of variant OPN1LW gene transcripts in myopic patients. 61
30996587 2019
9
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. 61
28516000 2017
10
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. 61
27447086 2016
11
The cone dysfunction syndromes. 61
25770143 2016
12
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. 61
23322568 2013
13
The cone dysfunction syndromes. 61
14736794 2004

Variations for Bornholm Eye Disease

Expression for Bornholm Eye Disease

Search GEO for disease gene expression data for Bornholm Eye Disease.

Pathways for Bornholm Eye Disease

GO Terms for Bornholm Eye Disease

Cellular components related to Bornholm Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 OPN1MW OPN1LW
2 photoreceptor disc membrane GO:0097381 8.62 OPN1MW OPN1LW

Biological processes related to Bornholm Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.4 OPN1MW OPN1LW
2 retinoid metabolic process GO:0001523 9.37 OPN1MW OPN1LW
3 positive regulation of cytokinesis GO:0032467 9.32 OPN1MW OPN1LW
4 phototransduction GO:0007602 9.26 OPN1MW OPN1LW
5 cellular response to light stimulus GO:0071482 9.16 OPN1MW OPN1LW
6 protein-chromophore linkage GO:0018298 8.96 OPN1MW OPN1LW
7 detection of visible light GO:0009584 8.62 OPN1MW OPN1LW

Molecular functions related to Bornholm Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 8.96 OPN1MW OPN1LW
2 photoreceptor activity GO:0009881 8.62 OPN1MW OPN1LW

Sources for Bornholm Eye Disease

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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