MCID: TYP002
MIFTS: 47

Type Vi Ehlers-Danlos Syndrome malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Type Vi Ehlers-Danlos Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Brittle cornea syndrome (bcs) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. there are 2 types of bcs which are distinguished by the mutated gene that causes the condition. bcs type 1 is caused by mutations in the znf469 gene and bcs type 2 is caused by mutations in the prdm5 gene. bcs is inherited in an autosomal recessive manner. last updated: 2/17/2012

MalaCards: Type Vi Ehlers-Danlos Syndrome, also known as brittle cornea syndrome, is related to ehlers-danlos syndrome and type iii ehlers-danlos syndrome, and has symptoms including osteoporosis/osteopenia/demineralisation/osteomalacia/rickets, myalgia/muscular pain and abnormal gait. An important gene associated with Type Vi Ehlers-Danlos Syndrome is ZNF469 (zinc finger protein 469). Affiliated tissues include skin, eye and bone.

Description from OMIM:46 229200,225400,614170

Aliases & Classifications for Type Vi Ehlers-Danlos Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
ehlers-danlos syndrome, oculoscoliotic type:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
brittle cornea syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

type vi ehlers-danlos syndrome 8
brittle cornea syndrome 8 9 42 46 48
corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility 42
fragilitas oculi with joint hyperextensibility 42
ehlers-danlos syndrome, oculoscoliotic type 48
ehlers-danlos syndrome, kyphoscoliotic type 48
dysgenesis mesodermalis corneae et sclerae 42
ehlers-danlos syndrome, type vi 9
ehlers-danlos syndrome type 6b 42
ehlers-danlos syndrome type 6a 48
ehlers-danlos syndrome type 6 60
ehlers-danlos syndrome 6b 60
eds, kyphoscoliotic type 48
eds, oculoscoliotic type 48
ehlers-danlos syndrome 60
kyphoscoliosis type 8
eds vib 42
eds via 48


External Ids:

Disease Ontology8 DOID:14775
MeSH34 C536198
SNOMED-CT56 25606004
ICD10 via Orphanet26 Q79.6

Related Diseases for Type Vi Ehlers-Danlos Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Ehlers-Danlos Syndrome Type Iv family:

Type Iii Ehlers-Danlos Syndrome type vi ehlers-danlos syndrome
Type I Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 5 Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Via Ehlers-Danlos Syndrome Type Viib
Ehlers-Danlos Syndrome, Type Viii

Diseases related to Type Vi Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome30.9ZNF469, PLOD1, PRDM5
2type iii ehlers-danlos syndrome11.1
3hypermobility syndrome11.0
4type i ehlers-danlos syndrome11.0
5ehlers-danlos syndrome progeroid type10.7
6ehlers-danlos syndrome, musculocontractural type 210.7
7ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
8ehlers-danlos syndrome arthrochalasia type10.6
9ehlers-danlos syndrome, periodontitis type10.6
10ehlers-danlos syndrome, fibronectinemic type10.6
11osteogenesis imperfecta10.6
12n syndrome10.6
13aortic aneurysm10.6
14spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
15ehlers-danlos syndrome, musculocontractural type 110.6
16ehlers-danlos syndrome dysfibronectinemic type10.5
17ehlers-danlos syndrome, progeroid type, 110.5
18ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
19x-linked ehlers-danlos syndrome10.5
20cervicitis10.5
21neuropathy10.5
22periodontitis10.5
23joint laxity, familial10.5
24occipital horn syndrome10.5
25brittle cornea syndrome 210.5
26cutis laxa10.5
27autosomal recessive type iv ehlers-danlos syndrome10.5
28myocardial infarction10.5
29myopathy10.5
30ehlers-danlos syndrome type 510.5
31ehlers-danlos syndrome, cardiac valvular form10.5
32autosomal dominant type iv ehlers-danlos syndrome10.4
33intracranial aneurysm10.4
34adult syndrome10.4
35connective tissue disease10.4
36polyneuropathy10.4
37ehlers–danlos syndrome, vascular type10.4
38osteogenesis imperfecta type i10.4
39image syndrome10.4
40ehlers-danlos syndrome beasley cohen type10.4
41ehlers-danlos syndrome, musculocontractural type10.4
42ehlers-danlos syndrome type via10.4
43heterotopia, periventricular, ed variant10.4
44ehlers-danlos syndrome, vascular-like type10.4
45ehlers-danlos syndrome, kyphoscoliotic form10.4
46brittle cornea syndrome 110.3
47melkersson-rosenthal syndrome10.3
48subclavian artery aneurysm10.3
49periventricular nodular heterotopia10.3
50otosclerosis10.3

Graphical network of the top 20 diseases related to Type Vi Ehlers-Danlos Syndrome:



Diseases related to type vi ehlers-danlos syndrome

Clinical Features for Type Vi Ehlers-Danlos Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

229200,225400,614170

Clinical synopsis from OMIM:

229200

Symptoms:

48 (show all 41)
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • myalgia/muscular pain
  • abnormal gait
  • bruisability
  • hair and scalp anomalies
  • abnormal scarring/cheloids/hypertrophic scars
  • conductive deafness/hearing loss
  • sensorineural deafness/hearing loss
  • visual loss/blindness/amblyopia
  • blue sclerae
  • autosomal recessive inheritance
  • hyperextensible joints/articular hyperlaxity
  • glaucoma
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • epiphyseal anomaly
  • mutiple fractures/bone fragility
  • pulmonary valve atresia/stenosis/narrowing
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • herniae
  • scoliosis
  • anomalies of teeth and dentition
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • retinal detachment
  • corneal ulceration/perforation
  • myopia
  • corneal dystrophy
  • keratoconus/keratoglobus
  • metabolic anomalies
  • joint dislocation/subluxation
  • hypotonia
  • arterial rupture
  • aortic dissection
  • kyphosis
  • talipes-varus/metatarsal varus
  • mucosal/cutaneous hemorrhage
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • hyperelastic skin/cutaneous hyperlaxity
  • inguinal/inguinoscrotal/crural hernia
  • retinopathy
  • microcornea
  • fragility of the eye globe

Drugs & Therapeutics for Type Vi Ehlers-Danlos Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Type Vi Ehlers-Danlos Syndrome

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Anatomical Context for Type Vi Ehlers-Danlos Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Type Vi Ehlers-Danlos Syndrome:

32
Skin, Eye, Bone

Animal Models for Type Vi Ehlers-Danlos Syndrome or affiliated genes

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Publications for Type Vi Ehlers-Danlos Syndrome

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50PubMed
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Articles related to Type Vi Ehlers-Danlos Syndrome:

(show all 31)
idTitleAuthorsYear
1
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? (23056730)
2010
2
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). (18155911)
2008
3
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). (18815038)
2008
4
Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI. (18158597)
2007
5
Coeliac axis thrombosis after surgical correction of spinal deformity in type VI Ehlers-Danlos syndrome: a case report and review of the literature. (17700434)
2007
6
A case of Ehlers Danlos syndrome type VI. (17100196)
2006
7
Orthodontic treatment protocol of Ehlers-Danlos syndrome type VI. (16448289)
2006
8
Corneal perforation with minor trauma: Ehlers-Danlos syndrome type VI. (16156158)
2005
9
Successful mitral valve replacement in a patient with Ehlers-Danlos syndrome type VI. (15975394)
2005
10
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
11
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. (14679583)
2004
12
Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome. (11286629)
2001
13
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. (10686424)
2000
14
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. (11001813)
2000
15
A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI. (10729709)
2000
16
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. (10874315)
2000
17
Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. (9893157)
1999
18
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. (10329027)
1999
19
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). (9617436)
1998
20
A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI. (9502428)
1998
21
A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine. (9344473)
1997
22
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. (8981946)
1997
23
Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. (9220536)
1997
24
The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI. (7646078)
1995
25
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. (8163671)
1994
26
Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. (7713497)
1994
27
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. (7977351)
1994
28
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. (8449506)
1993
29
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. (1345174)
1992
30
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. (2112090)
1990
31
A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts. (6421539)
1983

Genetic Variations for Type Vi Ehlers-Danlos Syndrome

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Expression for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type Vi Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Type Vi Ehlers-Danlos Syndrome.

Pathways for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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Compounds for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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GO Terms for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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16Gene Ontology
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Molecular functions related to Type Vi Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.4PRDM5, RXRA

Products for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type Vi Ehlers-Danlos Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet