MCID: EHL054
MIFTS: 40

Ehlers-Danlos Syndrome, Type Vi malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories

Summaries for Ehlers-Danlos Syndrome, Type Vi

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OMIM:45 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features... (225400) more...

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

NIH Rare Diseases:41 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

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Vi

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Ehlers-Danlos Syndrome, Type Vi, Aliases & Descriptions:

Name: Ehlers-Danlos Syndrome, Type Vi 45 10
Brittle Cornea Syndrome 9 10 41 47
Nevo Syndrome 41 20 60
Ehlers-Danlos Syndrome Type 6a 41 20
Ehlers-Danlos Syndrome Type 6 41 60
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 41
Fragilitas Oculi with Joint Hyperextensibility 41
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 41
Ehlers-Danlos Syndrome, Oculoscoliotic Type 41
Dysgenesis Mesodermalis Corneae Et Sclerae 41
Ehlers-Danlos Syndrome Oculoscoliotic Type 41
Ehlers-Danlos Syndrome Kyphoscoliotic Type 41
 
Type Vi Ehlers-Danlos Syndrome 9
Ehlers-Danlos Syndrome Type 6b 41
Cerebral Gigantism, Nevo Type 41
Cerebral Gigantism Nevo Type 41
Ehlers-Danlos Syndrome 6b 60
Eds, Oculoscoliotic Type 41
Eds, Kyphoscoliotic Type 41
Kyphoscoliosis Type 9
Eds Vib 41
Eds Via 41
Eds 6 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
brittle cornea syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 225400
Disease Ontology9 DOID:14775
MeSH33 C536198
SNOMED-CT55 25606004
Orphanet47 90354
ICD10 via Orphanet26 Q79.6

Related Diseases for Ehlers-Danlos Syndrome, Type Vi

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Graphical network of diseases related to Ehlers-Danlos Syndrome, Type Vi:



Diseases related to ehlers-danlos syndrome, type vi

Symptoms for Ehlers-Danlos Syndrome, Type Vi

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Symptoms by clinical synopsis from OMIM:

225400

Clinical features from OMIM:

225400

Symptoms:

 47 (show all 27)
  • keratoconus/keratoglobus
  • corneal dystrophy
  • myopia
  • autosomal recessive inheritance
  • blue sclerae
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • hair and scalp anomalies
  • bruisability
  • abnormal gait
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hyperextensible joints/articular hyperlaxity
  • glaucoma
  • corneal ulceration/perforation
  • retinal detachment
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of teeth and dentition
  • scoliosis
  • herniae
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • pulmonary valve atresia/stenosis/narrowing
  • mutiple fractures/bone fragility
  • epiphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

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

(show all 87)
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 corneal dystrophy hallmark (90%) HP:0001131
14 decreased corneal thickness hallmark (90%) HP:0100689
15 microcornea typical (50%) HP:0000482
16 retinopathy typical (50%) HP:0000488
17 glaucoma typical (50%) HP:0000501
18 visual impairment typical (50%) HP:0000505
19 retinal detachment typical (50%) HP:0000541
20 hyperextensible skin typical (50%) HP:0000974
21 abnormality of coagulation typical (50%) HP:0001928
22 subcutaneous hemorrhage typical (50%) HP:0001933
23 abnormality of the hip bone typical (50%) HP:0003272
24 hernia of the abdominal wall typical (50%) HP:0004299
25 decreased corneal thickness typical (50%) HP:0100689
26 conductive hearing impairment typical (50%) HP:0000405
27 sensorineural hearing impairment typical (50%) HP:0000407
28 blue sclerae typical (50%) HP:0000592
29 bruising susceptibility typical (50%) HP:0000978
30 atypical scarring of skin typical (50%) HP:0000987
31 gait disturbance typical (50%) HP:0001288
32 joint hypermobility typical (50%) HP:0001382
33 myalgia typical (50%) HP:0003326
34 reduced bone mineral density typical (50%) HP:0004349
35 corneal dystrophy occasional (7.5%) HP:0001131
36 talipes occasional (7.5%) HP:0001883
37 abnormality of the teeth occasional (7.5%) HP:0000164
38 cleft palate occasional (7.5%) HP:0000175
39 glaucoma occasional (7.5%) HP:0000501
40 retinal detachment occasional (7.5%) HP:0000541
41 abnormality of the mitral valve occasional (7.5%) HP:0001633
42 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
43 scoliosis occasional (7.5%) HP:0002650
44 recurrent fractures occasional (7.5%) HP:0002757
45 abnormality of the hip bone occasional (7.5%) HP:0003272
46 abnormality of the epiphyses occasional (7.5%) HP:0005930
47 hernia occasional (7.5%) HP:0100790
48 corneal erosion occasional (7.5%) HP:0200020
49 autosomal recessive inheritance HP:0000007
50 bladder diverticulum HP:0000015
51 inguinal hernia HP:0000023
52 tall stature HP:0000098
53 epicanthus HP:0000286
54 microcornea HP:0000482
55 glaucoma HP:0000501
56 retinal detachment HP:0000541
57 myopia HP:0000545
58 keratoconus HP:0000563
59 blue sclerae HP:0000592
60 blindness HP:0000618
61 dental crowding HP:0000678
62 osteoporosis HP:0000939
63 thin skin HP:0000963
64 hyperextensible skin HP:0000974
65 soft skin HP:0000977
66 bruising susceptibility HP:0000978
67 molluscoid pseudotumors HP:0000993
68 arachnodactyly HP:0001166
69 muscular hypotonia HP:0001252
70 motor delay HP:0001270
71 joint dislocation HP:0001373
72 joint laxity HP:0001388
73 disproportionate tall stature HP:0001519
74 decreased fetal movement HP:0001558
75 congestive heart failure HP:0001635
76 talipes equinovarus HP:0001762
77 pes planus HP:0001763
78 premature rupture of membranes HP:0001788
79 abnormality of metabolism/homeostasis HP:0001939
80 respiratory insufficiency HP:0002093
81 gastrointestinal hemorrhage HP:0002239
82 kyphosis HP:0002808
83 depressed nasal bridge HP:0005280
84 decreased pulmonary function HP:0005952
85 recurrent pneumonia HP:0006532
86 palmoplantar cutis laxa HP:0007517
87 progressive congenital scoliosis HP:0008458

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Type Vi

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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome, Type Vi

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Type Vi

Genetic Tests for Ehlers-Danlos Syndrome, Type Vi

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Genetic tests related to Ehlers-Danlos Syndrome, Type Vi:

id Genetic test Affiliating Genes
1 Nevo Syndrome20
2 Ehlers-Danlos Syndrome Type Via20

Anatomical Context for Ehlers-Danlos Syndrome, Type Vi

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

31
Skin, Eye, Bone, Heart

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

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Publications for Ehlers-Danlos Syndrome, Type Vi

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Articles related to Ehlers-Danlos Syndrome, Type Vi:

(show all 21)
idTitleAuthorsYear
1
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? (23056730)
2010
2
Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI. (18158597)
2007
3
A case of Ehlers Danlos syndrome type VI. (17100196)
2006
4
Orthodontic treatment protocol of Ehlers-Danlos syndrome type VI. (16448289)
2006
5
Corneal perforation with minor trauma: Ehlers-Danlos syndrome type VI. (16156158)
2005
6
Successful mitral valve replacement in a patient with Ehlers-Danlos syndrome type VI. (15975394)
2005
7
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
8
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. (10686424)
2000
9
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. (11001813)
2000
10
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
11
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
12
Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. (9893157)
1999
13
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
14
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). (9617436)
1998
15
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
16
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
17
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
18
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
19
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. (8163671)
1994
20
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
21
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. (1345174)
1992

Variations for Ehlers-Danlos Syndrome, Type Vi

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UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Type Vi:

62
id Symbol AA change Variation ID SNP ID
1PLOD1p.Trp612CysVAR_006355
2PLOD1p.Gly678ArgVAR_006356
3PLOD1p.Trp446GlyVAR_023466
4PLOD1p.Ala667ThrVAR_023467rs199730384
5PLOD1p.His706ArgVAR_023468

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

6 (show all 20)
id Gene Variation 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 Ehlers-Danlos Syndrome, Type Vi

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome, Type Vi

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Compounds for genes affiliated with Ehlers-Danlos Syndrome, Type Vi

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

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Biological processes related to Ehlers-Danlos Syndrome, Type Vi according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:00063519.1ZNF469, PRDM5

Molecular functions related to Ehlers-Danlos Syndrome, Type Vi according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:00468729.1ZNF469, PRDM5

Products for genes affiliated with Ehlers-Danlos Syndrome, Type Vi

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  • Antibodies
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  • Antibodies
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Sources for Ehlers-Danlos Syndrome, Type Vi

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet