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

Summaries for Type Vi Ehlers-Danlos Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 229200,225400,614170

Aliases & Classifications for Type Vi Ehlers-Danlos Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9
brittle cornea syndrome 9 10 44 48 50
corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility 44
fragilitas oculi with joint hyperextensibility 44
ehlers-danlos syndrome, oculoscoliotic type 50
ehlers-danlos syndrome, kyphoscoliotic type 50
dysgenesis mesodermalis corneae et sclerae 44
ehlers-danlos syndrome, type vi 10
ehlers-danlos syndrome type 6b 44
ehlers-danlos syndrome type 6a 50
ehlers-danlos syndrome type 6 63
ehlers-danlos syndrome 6b 63
eds, kyphoscoliotic type 50
eds, oculoscoliotic type 50
ehlers-danlos syndrome 63
kyphoscoliosis type 9
eds vib 44
eds via 50


External Ids:

Disease Ontology9 DOID:14775
MeSH36 C536198
SNOMED-CT59 25606004
ICD10 via Orphanet27 Q79.6

Related Diseases for Type Vi Ehlers-Danlos Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200,225400,614170

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Type Vi Ehlers-Danlos Syndrome:

34
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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53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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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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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet