MCID: TYP002
MIFTS: 39

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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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 based summary: Type Vi Ehlers-Danlos Syndrome, also known as brittle cornea syndrome, is related to ehlers-danlos syndrome and brittle cornea syndrome 1, and has symptoms including fragility of the eye globe, myopia and kyphosis. An important gene associated with Type Vi Ehlers-Danlos Syndrome is PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1). Affiliated tissues include eye, skin and bone.

Descriptions from OMIM:46 229200,225400,614170

Aliases & Classifications for Type Vi Ehlers-Danlos Syndrome

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Type Vi Ehlers-Danlos Syndrome, Aliases & Descriptions:

Name: Type Vi Ehlers-Danlos Syndrome 8
Brittle Cornea Syndrome 8 9 42 48
Fragilitas Oculi with Joint Hyperextensibility 42 62
Dysgenesis Mesodermalis Corneae Et Sclerae 42 62
Ehlers-Danlos Syndrome, Type Vi 9 62
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 42
Ehlers-Danlos Syndrome, Oculoscoliotic Type 48
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 48
Ehlers-Danlos Syndrome Type 6b 42
 
Ehlers-Danlos Syndrome Type 6a 48
Ehlers-Danlos Syndrome Type 6 62
Ehlers-Danlos Syndrome 6b 62
Eds, Kyphoscoliotic Type 48
Eds, Oculoscoliotic Type 48
Ehlers-Danlos Syndrome 62
Kyphoscoliosis Type 8
Eds Vib 42
Eds Via 48


Classifications:



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


External Ids:

Disease Ontology8 DOID:14775
SNOMED-CT57 25606004
MeSH34 C536198
ICD10 via Orphanet26 Q79.6

Related Diseases for Type Vi Ehlers-Danlos Syndrome

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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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Clinical features from OMIM:

229200,225400,614170

Symptoms:

48 (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

HPO human phenotypes related to Type Vi Ehlers-Danlos Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 myopia hallmark (90%) HP:0000545
2 atypical scarring of skin hallmark (90%) HP:0000987
3 muscular hypotonia hallmark (90%) HP:0001252
4 gait disturbance hallmark (90%) HP:0001288
5 joint dislocation hallmark (90%) HP:0001373
6 joint hypermobility hallmark (90%) HP:0001382
7 abnormality of the mitral valve hallmark (90%) HP:0001633
8 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
9 aortic dissection hallmark (90%) HP:0002647
10 scoliosis hallmark (90%) HP:0002650
11 kyphosis hallmark (90%) HP:0002808
12 arterial dissection hallmark (90%) HP:0005294
13 myopia hallmark (90%) HP:0000545
14 corneal dystrophy hallmark (90%) HP:0001131
15 decreased corneal thickness hallmark (90%) HP:0100689
16 microcornea typical (50%) HP:0000482
17 retinopathy typical (50%) HP:0000488
18 glaucoma typical (50%) HP:0000501
19 visual impairment typical (50%) HP:0000505
20 retinal detachment typical (50%) HP:0000541
21 hyperextensible skin typical (50%) HP:0000974
22 abnormality of coagulation typical (50%) HP:0001928
23 subcutaneous hemorrhage typical (50%) HP:0001933
24 abnormality of the hip bone typical (50%) HP:0003272
25 hernia of the abdominal wall typical (50%) HP:0004299
26 decreased corneal thickness typical (50%) HP:0100689
27 conductive hearing impairment typical (50%) HP:0000405
28 sensorineural hearing impairment typical (50%) HP:0000407
29 visual impairment typical (50%) HP:0000505
30 blue sclerae typical (50%) HP:0000592
31 bruising susceptibility typical (50%) HP:0000978
32 atypical scarring of skin typical (50%) HP:0000987
33 gait disturbance typical (50%) HP:0001288
34 joint hypermobility typical (50%) HP:0001382
35 myalgia typical (50%) HP:0003326
36 reduced bone mineral density typical (50%) HP:0004349
37 corneal dystrophy occasional (7.5%) HP:0001131
38 talipes occasional (7.5%) HP:0001883
39 abnormality of the teeth occasional (7.5%) HP:0000164
40 cleft palate occasional (7.5%) HP:0000175
41 glaucoma occasional (7.5%) HP:0000501
42 retinal detachment occasional (7.5%) HP:0000541
43 abnormality of the mitral valve occasional (7.5%) HP:0001633
44 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
45 scoliosis occasional (7.5%) HP:0002650
46 recurrent fractures occasional (7.5%) HP:0002757
47 abnormality of the hip bone occasional (7.5%) HP:0003272
48 abnormality of the epiphyses occasional (7.5%) HP:0005930
49 hernia occasional (7.5%) HP:0100790
50 corneal erosion occasional (7.5%) HP:0200020

Drugs & Therapeutics for Type Vi Ehlers-Danlos Syndrome

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Drug clinical trials:

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

32
Eye, Skin, 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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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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Clinvar genetic disease variations for Type Vi Ehlers-Danlos Syndrome:

6 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1PLOD1NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter)single nucleotide variantPathogenicrs121913550GRCh37Chr 1, 12018684: 12018684
2PLOD1PLOD1, 8.9-KB DUPduplicationPathogenic
3PLOD1NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg)single nucleotide variantPathogenicrs121913551GRCh37Chr 1, 12034713: 12034713
4PLOD1PLOD1, 3-BP DEL, GLU532DELdeletionPathogenic
5PLOD1PLOD1, 1-BP DEL, IVS15, A, -2deletionPathogenic
6PLOD1PLOD1, 3-KB DEL, EX17DELdeletionPathogenic
7PLOD1NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter)single nucleotide variantPathogenicrs121913552GRCh37Chr 1, 12025599: 12025599
8PLOD1PLOD1, IVS5, G-A, +1single nucleotide variantPathogenic
9PLOD1NM_000302.3(PLOD1): c.1836G> C (p.Trp612Cys)single nucleotide variantPathogenicrs121913553GRCh37Chr 1, 12030807: 12030807
10PLOD1NM_000302.3(PLOD1): c.2008C> T (p.Arg670Ter)single nucleotide variantPathogenicrs121913554GRCh37Chr 1, 12033034: 12033034
11ZNF469NM_001127464.1(ZNF469): c.10016G> A (p.Cys3339Tyr)single nucleotide variantPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
12ZNF469NM_001127464.1(ZNF469): c.4174G> T (p.Glu1392Ter)single nucleotide variantPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
13PRDM5PRDM5, 52.46-KB DELdeletionPathogenic
14PRDM5NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)single nucleotide variantPathogenicrs387907110GRCh37Chr 4, 121616391: 121616391
15PRDM5PRDM5, IVS1DS, G-A, +1single nucleotide variantPathogenic
16PRDM5NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)single nucleotide variantPathogenicrs387907111GRCh37Chr 4, 121742481: 121742481
17PRDM5PRDM5, 1-BP DEL, 947GdeletionPathogenic
18PRDM5PRDM5, IVS1DS, T-C, +2single nucleotide variantPathogenic
19ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
20ZNF469ZNF469, 1-BP DEL, 9527GdeletionPathogenic

Expression for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:0063519.1ZNF469, PRDM5

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:0468729.1ZNF469, PRDM5

Products for genes affiliated with Type Vi Ehlers-Danlos Syndrome

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet