BED
MCID: BRN041
MIFTS: 26

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 scabies and pulmonary embolism. An important gene associated with Bornholm Eye Disease is BED (Bornholm Eye Disease). Affiliated tissues include eye, 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 435)
# Related Disease Score Top Affiliating Genes
1 scabies 11.4
2 pulmonary embolism 11.4
3 sudden infant death syndrome 11.3
4 pure autonomic failure 11.3
5 leishmaniasis 11.2
6 fibromuscular dysplasia 11.2
7 rheumatoid arthritis 11.2
8 respiratory failure 11.2
9 benign paroxysmal positional nystagmus 11.2
10 psoriatic arthritis 11.2
11 rem sleep behavior disorder 11.2
12 nail disorder, nonsyndromic congenital, 3 11.0
13 nail disorder, nonsyndromic congenital, 8 11.0
14 sleep disorder 11.0
15 chronic fatigue syndrome 11.0
16 brachydactyly, type d 10.9
17 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.9
18 nail disorder, nonsyndromic congenital, 4 10.9
19 hemihyperplasia, isolated 10.9
20 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.9
21 ectodermal dysplasia, hidrotic, christianson-fourie type 10.9
22 nail disorder, nonsyndromic congenital, 10 10.9
23 thrombophilia due to thrombomodulin defect 10.9
24 nanophthalmos 4 10.9
25 dengue disease 10.9
26 advanced sleep phase syndrome 10.9
27 tinea unguium 10.9
28 primary hypertrophic osteoarthropathy 10.9
29 norwegian scabies 10.9
30 actinic keratosis 10.9
31 diabetes insipidus 10.9
32 hypnic headache 10.9
33 perniosis 10.9
34 malaria 10.3
35 orthostatic intolerance 10.2
36 anxiety 10.1
37 pulmonary alveolar microlithiasis 10.1
38 pre-eclampsia 10.1
39 squamous cell carcinoma 10.1
40 hypoxia 10.1
41 burns 10.1
42 myopia 10.1
43 chronic ulcer of skin 10.1
44 decubitus ulcer 10.1
45 obsessive-compulsive disorder 10.0
46 skin carcinoma 10.0
47 bowen's disease 10.0
48 streptococcal group a invasive disease 10.0
49 ischemia 10.0
50 eating disorder 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

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

Publications for Bornholm Eye Disease

Articles related to Bornholm Eye Disease:

# Title Authors Year
1
X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. ( 1980096 )
1990

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

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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