MCID: TYP002
MIFTS: 40

Type Vi Ehlers-Danlos Syndrome malady

Eye, Bone, Skin, Fetal categories

Summaries for Type Vi Ehlers-Danlos Syndrome

Sources:
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 hypermobility syndrome and ehlers–danlos syndrome, vascular type, and has symptoms including fragility of the eye globe, myopia and kyphosis. An important gene associated with Type Vi Ehlers-Danlos Syndrome is ZNF469 (zinc finger protein 469). Affiliated tissues include skin.

Description from OMIM:47 229200,225400,614170

Aliases & Classifications for Type Vi Ehlers-Danlos Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
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Classifications:

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


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 61
ehlers-danlos syndrome 6b 61
eds, kyphoscoliotic type 49
eds, oculoscoliotic type 49
ehlers-danlos syndrome 61
kyphoscoliosis type 8
eds vib 43
eds via 49


External Ids:

Disease Ontology8 DOID:14775
MeSH35 C536198
SNOMED-CT57 25606004
ICD10 via Orphanet26 Q79.6

Related Diseases for Type Vi Ehlers-Danlos Syndrome

Sources:
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 with progressive kyphoscoliosis, myopathy, and hearing loss 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 177)
idRelated DiseaseScoreTop Affiliating Genes
1hypermobility syndrome11.1
2ehlers–danlos syndrome, vascular type11.0
3ehlers-danlos syndrome, type vii10.9
4char syndrome10.8
5ehlers-danlos syndrome progeroid type10.7
6ehlers-danlos syndrome, type viii10.7
7ehlers-danlos syndrome arthrochalasia type10.7
8ehlers-danlos syndrome, musculocontractural type 210.7
9ehlers–danlos syndrome10.7
10ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
11ehlers-danlos syndrome, periodontitis type10.7
12ehlers–danlos syndrome classical type10.6
13ehlers-danlos/osteogenesis imperfecta syndrome10.6
14osteogenesis imperfecta10.6
15aortic aneurysm10.6
16micro syndrome10.6
17young syndrome10.6
18mass syndrome10.6
19ehlers-danlos syndrome, musculocontractural type 110.6
20ehlers-danlos syndrome, fibronectinemic type10.6
21triple-a syndrome10.6
22ehlers–danlos syndrome dermatosparaxis type10.6
23occipital horn syndrome10.6
24ehlers-danlos syndrome dysfibronectinemic type10.6
25spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
26periventricular heterotopia10.6
27osteogenesis imperfecta type i10.5
28ehlers-danlos syndrome, progeroid type, 110.5
29ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
30ehlers-danlos syndrome, cardiac valvular form10.5
31x-linked ehlers-danlos syndrome10.5
32brittle cornea syndrome 210.5
33cutis laxa10.5
34type iii ehlers-danlos syndrome10.5
35adult syndrome10.5
36joint laxity, familial10.5
37ehlers-danlos syndrome type 510.5
38ehlers-danlos syndrome, musculocontractural type10.5
39autosomal recessive type iv ehlers-danlos syndrome10.4
40intracranial aneurysm10.4
41ehlers-danlos syndrome beasley cohen type10.4
42ehlers-danlos syndrome type via10.4
43chronic pain10.4
44hypotonia10.4
45null syndrome10.4
46ehlers–danlos syndrome kyphoscoliosis type10.4
47type i ehlers-danlos syndrome10.4
48ehlers-danlos syndrome, kyphoscoliotic form10.4
49brittle cornea syndrome 110.4
50melkersson-rosenthal syndrome10.3

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

229200,225400,614170

Clinical synopsis from OMIM:

229200

Symptoms:

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

Drugs & Therapeutics for Type Vi Ehlers-Danlos Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Type Vi Ehlers-Danlos Syndrome

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

33
Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Type Vi Ehlers-Danlos Syndrome

Sources:
51PubMed
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Articles related to Type Vi Ehlers-Danlos Syndrome:

(show all 31)
idTitleAuthorsYear
1
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. (22739343)
2013
2
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients. (24198978)
2013
3
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. (23533212)
2013
4
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. (22787447)
2012
5
Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study. (22633352)
2012
6
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature. (22781752)
2012
7
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. (22419391)
2012
8
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). (19937459)
2010
9
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. (18409203)
2008
10
Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1. (18305566)
2008
11
Type IV Ehlers-Danlos syndrome associated with factor VIII deficiency. (19172005)
2008
12
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. (20960610)
2008
13
Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. (18973246)
2008
14
What syndrome is this? Ehlers-Danlos syndrome type VIII. (17461822)
2007
15
The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome. (17714577)
2007
16
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. (16843123)
2006
17
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. (15373769)
2004
18
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). (15389701)
2004
19
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). (12969232)
2003
20
Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. (10721840)
2000
21
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. (9295084)
1997
22
Ehlers-Danlos syndrome type VIII and leukodystrophy. (8958339)
1996
23
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC). (7735500)
1995
24
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. (8071956)
1994
25
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide. (8340401)
1993
26
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. (1577745)
1992
27
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB. (1536766)
1992
28
Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome. (1953824)
1991
29
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII. (2318855)
1990
30
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. (3680255)
1987
31
A case of Ehlers-Danlos syndrome (type IV) with persisting vitelline duct cyst. (7363668)
1980

Genetic Variations for Type Vi Ehlers-Danlos Syndrome

Expression for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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

Compounds for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type Vi Ehlers-Danlos Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet