MCID: TYP002
MIFTS: 40

Type Vi Ehlers-Danlos Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories
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Summaries for Type Vi Ehlers-Danlos Syndrome

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 brittle cornea syndrome 2, and has symptoms including arterial rupture, retinal detachment and retinal detachment. 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:47 229200,225400,614170

Aliases & Classifications for Type Vi Ehlers-Danlos Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 43 47 49
corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility 43
fragilitas oculi with joint hyperextensibility 43
ehlers-danlos syndrome, oculoscoliotic type 49
ehlers-danlos syndrome, kyphoscoliotic type 49
dysgenesis mesodermalis corneae et sclerae 43
ehlers-danlos syndrome, type vi 9
ehlers-danlos syndrome type 6b 43
ehlers-danlos syndrome type 6a 49
ehlers-danlos syndrome type 6 62
ehlers-danlos syndrome 6b 62
eds, kyphoscoliotic type 49
eds, oculoscoliotic type 49
ehlers-danlos syndrome 62
kyphoscoliosis type 8
eds vib 43
eds via 49


External Ids:

Disease Ontology8 DOID:14775
MeSH35 C536198
SNOMED-CT58 25606004
ICD10 via Orphanet26 Q79.6

Related Diseases for Type Vi Ehlers-Danlos Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Type Vi Ehlers-Danlos Syndrome:



Diseases related to type vi ehlers-danlos syndrome

Symptoms for Type Vi Ehlers-Danlos Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200,225400,614170

Symptoms:

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

Drugs & Therapeutics for Type Vi Ehlers-Danlos Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Type Vi Ehlers-Danlos Syndrome

Search NIH Clinical Center for Type Vi Ehlers-Danlos Syndrome

Genetic Tests for Type Vi Ehlers-Danlos Syndrome

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Anatomical Context for Type Vi Ehlers-Danlos Syndrome

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33MalaCards
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MalaCards organs/tissues related to Type Vi Ehlers-Danlos Syndrome:

33
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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52PubMed
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Articles related to Type Vi Ehlers-Danlos Syndrome:

idTitleAuthorsYear
1
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
2
Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome. (11286629)
2001
3
A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts. (6421539)
1983

Variations for Type Vi Ehlers-Danlos Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Type Vi Ehlers-Danlos Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZNF469NM_001127464.1(ZNF469): c.10016G> A (p.Cys3339Tyr)single nucleotide variantPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
2ZNF469NM_001127464.1(ZNF469): c.4174G> T (p.Glu1392Ter)single nucleotide variantPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
3ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
4ZNF469ZNF469, 1-BP DEL, 9527GdeletionPathogenic

Expression for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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2BioGPS, 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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Biological processes related to Type Vi Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:0063519.3ZNF469, PRDM5

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:0468729.3ZNF469, PRDM5

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet