BED
MCID: BRN041
MIFTS: 28

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 59 13 73
Myopia, High, with Nonprogressive Cone Dysfunction 57
X-Linked Cone Dysfunction Syndrome with Myopia 59
Bed 57

Characteristics:

Orphanet epidemiological data:

59
x-linked cone dysfunction syndrome with myopia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
bornholm eye disease:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 300843
Orphanet 59 ORPHA90001
UMLS via Orphanet 74 C3159311
MedGen 42 C3159311
UMLS 73 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)

MalaCards based summary : Bornholm Eye Disease, also known as myopia, high, with nonprogressive cone dysfunction, is related to sudden infant death syndrome and leishmaniasis. An important gene associated with Bornholm Eye Disease is BED (Bornholm Eye Disease). Affiliated tissues include eye, skin 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 340)
# Related Disease Score Top Affiliating Genes
1 sudden infant death syndrome 11.3
2 leishmaniasis 11.2
3 fibromuscular dysplasia 11.2
4 rheumatoid arthritis 11.2
5 benign paroxysmal positional nystagmus 11.2
6 psoriatic arthritis 11.2
7 rem sleep behavior disorder 11.2
8 pulmonary embolism 11.2
9 nail disorder, nonsyndromic congenital, 3 11.0
10 nail disorder, nonsyndromic congenital, 8 11.0
11 scabies 11.0
12 chronic fatigue syndrome 11.0
13 brachydactyly, type d 10.9
14 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.9
15 nail disorder, nonsyndromic congenital, 4 10.9
16 hemihyperplasia, isolated 10.9
17 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.9
18 ectodermal dysplasia, hidrotic, christianson-fourie type 10.9
19 nail disorder, nonsyndromic congenital, 10 10.9
20 thrombophilia due to thrombomodulin defect 10.9
21 nanophthalmos 4 10.9
22 dengue disease 10.9
23 advanced sleep phase syndrome 10.9
24 tinea unguium 10.9
25 primary hypertrophic osteoarthropathy 10.9
26 norwegian scabies 10.9
27 sleep disorder 10.9
28 actinic keratosis 10.9
29 diabetes insipidus 10.9
30 hypnic headache 10.9
31 perniosis 10.9
32 pure autonomic failure 10.9
33 postural hypotension 10.9
34 malaria 10.3
35 orthostatic intolerance 10.2
36 anxiety 10.1
37 chronic ulcer of skin 10.1
38 pre-eclampsia 10.1
39 myopia 10.1
40 bowen's disease 10.1
41 hypoxia 10.1
42 obsessive-compulsive disorder 10.0
43 squamous cell carcinoma 10.0
44 ischemia 10.0
45 eclampsia 10.0
46 decubitus ulcer 10.0
47 methane production 9.9
48 melanoma 9.9
49 cervical incompetence 9.9
50 pulmonary alveolar microlithiasis 9.9

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



Diseases related to Bornholm Eye Disease

Symptoms & Phenotypes for Bornholm Eye Disease

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic nerve hypoplasia
amblyopia
astigmatism
myopia, high-grade
deuteranopia
more

Clinical features from OMIM:

300843

Human phenotypes related to Bornholm Eye Disease:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 32 HP:0007703
2 optic nerve hypoplasia 32 HP:0000609
3 amblyopia 32 HP:0000646
4 astigmatism 32 HP:0000483
5 high myopia 32 HP:0011003
6 deuteranopia 32 HP:0011521
7 protanopia 32 HP:0011522
8 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

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:

41
Eye, Skin, Brain, Liver, Heart, Thyroid

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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