BED
MCID: BRN041
MIFTS: 45

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 58 60 13 74
Myopia, High, with Nonprogressive Cone Dysfunction 58
X-Linked Cone Dysfunction Syndrome with Myopia 60
Bed 58

Characteristics:

Orphanet epidemiological data:

60
x-linked cone dysfunction syndrome with myopia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
bornholm eye disease:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 300843
UMLS via Orphanet 75 C3159311
Orphanet 60 ORPHA90001
MedGen 43 C3159311
UMLS 74 C3159311

Summaries for Bornholm Eye Disease

OMIM : 58 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)

MalaCards based summary : Bornholm Eye Disease, also known as myopia, high, with nonprogressive cone dysfunction, is related to myopia and scabies. 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 Opsins. Affiliated tissues include eye, breast and brain, and related phenotypes are abnormality of retinal pigmentation and optic nerve hypoplasia

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 459)
# Related Disease Score Top Affiliating Genes
1 myopia 29.3 MYP1 OPN1LW
2 scabies 11.4
3 pulmonary embolism 11.4
4 sudden infant death syndrome 11.3
5 pure autonomic failure 11.3
6 leishmaniasis 11.3
7 rheumatoid arthritis 11.2
8 respiratory failure 11.2
9 benign paroxysmal positional nystagmus 11.2
10 fibromuscular dysplasia 11.2
11 psoriatic arthritis 11.2
12 rem sleep behavior disorder 11.2
13 nail disorder, nonsyndromic congenital, 3 11.1
14 nail disorder, nonsyndromic congenital, 8 11.1
15 sleep disorder 11.1
16 chronic fatigue syndrome 11.1
17 brachydactyly, type d 10.9
18 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.9
19 dementia, lewy body 10.9
20 nail disorder, nonsyndromic congenital, 4 10.9
21 hemihyperplasia, isolated 10.9
22 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.9
23 ectodermal dysplasia, hidrotic, christianson-fourie type 10.9
24 nail disorder, nonsyndromic congenital, 10 10.9
25 thrombophilia due to thrombomodulin defect 10.9
26 nanophthalmos 4 10.9
27 dengue disease 10.9
28 tinea unguium 10.9
29 primary hypertrophic osteoarthropathy 10.9
30 norwegian scabies 10.9
31 actinic keratosis 10.9
32 diabetes insipidus 10.9
33 hypnic headache 10.9
34 perniosis 10.9
35 malaria 10.5
36 anxiety 10.3
37 hypoxia 10.2
38 breast cancer 10.2
39 orthostatic intolerance 10.2
40 squamous cell carcinoma 10.2
41 pulmonary alveolar microlithiasis 10.1
42 pre-eclampsia 10.1
43 burns 10.1
44 chronic ulcer of skin 10.1
45 skin carcinoma 10.1
46 decubitus ulcer 10.1
47 obsessive-compulsive disorder 10.0
48 melanoma 10.0
49 ischemia 10.0
50 bowen's disease 10.0

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 33 HP:0007703
2 optic nerve hypoplasia 33 HP:0000609
3 amblyopia 33 HP:0000646
4 astigmatism 33 HP:0000483
5 high myopia 33 HP:0011003
6 deuteranopia 33 HP:0011521
7 protanopia 33 HP:0011522
8 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic nerve hypoplasia
amblyopia
astigmatism
myopia, high-grade
deuteranopia
more

Clinical features from OMIM:

300843

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.43 OPN1LW OPN1MW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.43 OPN1LW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.43 OPN1MW
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.43 OPN1MW
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.43 OPN1MW
6 Increased circadian period length GR00213-A 8.62 OPN1LW 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:

42
Eye, Breast, Brain, Prostate, Testes, Bone, Skin

Publications for Bornholm Eye Disease

Articles related to Bornholm Eye Disease:

(show top 50) (show all 2992)
# Title Authors Year
1
Upscaling fixed bed adsorption behaviors towards emerging micropollutants in treated natural waters with aging activated carbon: Model development and validation. ( 30343196 )
2019
2
What is the evidence for using bed rest as part of hospital treatment of severe anorexia nervosa? ( 31003978 )
2019
3
Resting-state connectivity of the bed nucleus of the stria terminalis and the central nucleus of the amygdala in clinical anxiety ( 30964612 )
2019
4
Chronic Suppression of Glucagon-Like Peptide-1 Receptor (GLP1R) mRNA Translation in the Rat Bed Nucleus of the Stria Terminalis Reduces Anxiety-Like Behavior and Stress-Induced Hypophagia, But Prolongs Stress-Induced Elevation of Plasma Corticosterone. ( 30683681 )
2019
5
Oxytocin facilitates adaptive fear and attenuates anxiety responses in animal models and human studies-potential interaction with the corticotropin-releasing factor (CRF) system in the bed nucleus of the stria terminalis (BNST). ( 30054732 )
2019
6
Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women. ( 30677719 )
2019
7
Challenges in Translating from Bench to Bed-Side: Pro-Angiogenic Peptides for Ischemia Treatment. ( 30925755 )
2019
8
The function of BED finger domain of Zbed3 in regulating lung cancer cell proliferation. ( 30805970 )
2019
9
Caregiver exposure to malaria social and behaviour change messages can improve bed net use among children in an endemic country: secondary analysis of the 2015 Nigeria Malaria Indicator Survey. ( 30954073 )
2019
10
Nail bed solitary neurofibroma: A case report and literature review. ( 30653135 )
2019
11
Onychomatricoma of the Nail Bed. ( 31049340 )
2019
12
Socio-economic and demographic disparities in ownership and use of insecticide-treated bed nets for preventing malaria among rural reproductive-aged women in northern Ghana. ( 30695044 )
2019
13
Correction to: Bed nets used to protect against malaria do not last long in a semi-arid area of Ethiopia: a cohort study. ( 31003595 )
2019
14
Post-surgical Thyroid Bed Pyoderma Gangrenosum Mimicking Recurrent Papillary Thyroid Carcinoma. ( 31057489 )
2019
15
Testing the Competence of Cimex lectularius Bed Bugs for the Transmission of Borrelia recurrentis, the Agent of Relapsing Fever. ( 30938280 )
2019
16
Randomized phase II trial comparing tumor bed alone with tumor bed and elective nodal postoperative radiotherapy in patients with locoregionally advanced thoracic esophageal squamous cell carcinoma. ( 30855089 )
2019
17
High frequency of getting out of bed in patients with Alzheimer's disease monitored by non-wearable actigraphy. ( 30463102 )
2019
18
High-Resolution HDX-MS of Cytochrome c Using Pepsin/Fungal Protease Type XIII Mixed Bed Column. ( 30374663 )
2019
19
From batch to fed-batch and to continuous packed-bed reactors: Lipase-catalyzed esterifications in low viscous deep-eutectic-solvents with buffer as cosolvent. ( 30448684 )
2019
20
Differences in the response to periarterial nerve stimulation or exogenous noradrenaline infusion in the mesenteric vascular bed with the intestinal tract harvested from commonly used rat models of hypertension. ( 30697784 )
2019
21
Investigation of self-reported dizziness in the elderly when lying down or turning over in bed, and possible benign paroxysmal positional vertigo. ( 30929651 )
2019
22
Interobserver variability (between radiation oncologist and radiation therapist) in tumor bed contouring after breast-conserving surgery. ( 30915903 )
2019
23
Contact-free respiratory monitoring using bed-wheel sensors: A valid respiratory monitoring technique with significant potential impact on public health. ( 30920886 )
2019
24
Development of a new bed-side-test assessing conditioned pain modulation: a test-retest reliability study. ( 30920956 )
2019
25
Breakpoints of time in bed, midpoint of sleep, and social jetlag from infancy to early adulthood. ( 30921684 )
2019
26
Catalytic Dehydration of Glycerol to Acrolein in a Two-Zone Fluidized Bed Reactor. ( 30923707 )
2019
27
Enhanced simultaneous nitri-denitrification in aerobic moving bed biofilm reactor containing polyurethane foam-based carrier media. ( 30924805 )
2019
28
Fluorine removal and calcium fluoride recovery from rare-earth smelting wastewater using fluidized bed crystallization process. ( 30925391 )
2019
29
Chitosan-coated different particles in spouted bed and their use in dye continuous adsorption system. ( 30929177 )
2019
30
The usefulness of fine-needle aspirates for detection of recurrent carcinoma in the thyroid bed. ( 30929757 )
2019
31
Bed-Embedded Heart and Respiration Rates Detection by Longitudinal Ballistocardiography and Pattern Recognition. ( 30934577 )
2019
32
New Aluminum Alloys Specifically Designed for Laser Powder Bed Fusion: A Review. ( 30934694 )
2019
33
Xenointoxication of a Rabbit for the Control of the Common Bed Bug Cimex lectularius L. Using Ivermectin. ( 30937212 )
2019
34
Sex-associated differences in excitability within the bed nucleus of the stria terminalis are reflective of cell-type. ( 30937349 )
2019
35
Allogenic Pure Platelet-Rich Plasma Therapy for Rotator Cuff Disease: A Bench and Bed Study: Letter to the Editor. ( 30943081 )
2019
36
Allogenic Pure Platelet-Rich Plasma Therapy for Rotator Cuff Disease: A Bench and Bed Study: Response. ( 30943082 )
2019
37
Nail bed and flap reconstructions for acute fingertip injuries - A case review and report of a chemical burn injury. ( 30943852 )
2019
38
Bed nucleus of the stria terminalis regulates fear to unpredictable threat signals. ( 30946011 )
2019
39
Characterisation of the relaxin family peptide 3 receptor system in the mouse bed nucleus of the stria terminalis. ( 30947365 )
2019
40
Glass fiber supported BiOI thin-film fixed-bed photocatalytic reactor for water decontamination under solar light irradiation. ( 30952345 )
2019
41
Multicentre pilot randomised clinical trial of early in-bed cycle ergometry with ventilated patients. ( 30956804 )
2019
42
Preoperative Skin Conditioning: Extracellular Matrix Clearance and Skin Bed Preparation, A New Paradigm. ( 30958551 )
2019
43
Hydrodissection of the Gallbladder Bed: A Technique for Ablations Located Close to the Gallbladder. ( 30963191 )
2019
44
Inhibitory transmission in the bed nucleus of the stria terminalis in male and female mice following morphine withdrawal. ( 30963693 )
2019
45
Estradiol potentiates inhibitory synaptic transmission in the oval bed nucleus of the striaterminalis of male and female rats. ( 30965200 )
2019
46
High-Resolution SEM and EDX Characterization of Deposits Formed by CH₄+Ar DBD Plasma Processing in a Packed Bed Reactor. ( 30974810 )
2019
47
Design of taste masked enteric orodispersible tablets of diclofenac sodium by applying fluid bed coating technology. ( 30976178 )
2019
48
Performance evaluation of a lab-scale moving bed biofilm reactor (MBBR) using polyethylene as support material in the treatment of wastewater contaminated with terephthalic acid. ( 30986593 )
2019
49
Controlling cold temperature partial nitritation in moving bed biofilm reactor. ( 30986604 )
2019
50
A Multi-Modal Sensor for a Bed-Integrated Unobtrusive Vital Signs Sensing Array. ( 30990438 )
2019

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

Pathways related to Bornholm Eye Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 OPN1LW OPN1MW
2 9.58 OPN1LW OPN1MW

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 OPN1LW OPN1MW
2 photoreceptor disc membrane GO:0097381 8.62 OPN1LW OPN1MW

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 OPN1LW OPN1MW
2 retinoid metabolic process GO:0001523 9.37 OPN1LW OPN1MW
3 positive regulation of cytokinesis GO:0032467 9.32 OPN1LW OPN1MW
4 phototransduction GO:0007602 9.26 OPN1LW OPN1MW
5 cellular response to light stimulus GO:0071482 9.16 OPN1LW OPN1MW
6 protein-chromophore linkage GO:0018298 8.96 OPN1LW OPN1MW
7 detection of visible light GO:0009584 8.62 OPN1LW OPN1MW

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 OPN1LW OPN1MW
2 photoreceptor activity GO:0009881 8.62 OPN1LW OPN1MW

Sources for Bornholm Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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