MCID: EHL054
MIFTS: 48

Ehlers-Danlos Syndrome, Type Vi malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Vi

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

Name: Ehlers-Danlos Syndrome, Type Vi 49 11
Brittle Cornea Syndrome 10 11 45 51
Nevo Syndrome 45 22 65 67
Type Vi Ehlers-Danlos Syndrome 10 12
Ehlers-Danlos Syndrome Type 6 65 36
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 45
Fragilitas Oculi with Joint Hyperextensibility 45
Ehlers-Danlos Syndrome Oculoscoliotic Type 67
Ehlers-Danlos Syndrome Kyphoscoliotic Type 67
Dysgenesis Mesodermalis Corneae Et Sclerae 45
 
Ehlers-Danlos Syndrome Type 6b 45
Cerebral Gigantism Nevo Type 45
Ehlers-Danlos Syndrome 6b 65
Ehlers-Danlos Syndrome 6 67
Kyphoscoliosis Type 10
Eds Via 67
Eds Vib 45
Eds Vi 67
Eds6a 67
Eds6 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brittle cornea syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 225400
Disease Ontology10 DOID:14775
SNOMED-CT59 25606004
Orphanet51 90354
ICD10 via Orphanet28 Q79.6
MedGen34 C0268342

Summaries for Ehlers-Danlos Syndrome, Type Vi

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OMIM:49 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, type viib and ehlers-danlos syndrome, classic type, 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), and among its related pathways are Protein digestion and absorption and Phospholipase-C Pathway. Affiliated tissues include skin, eye and bone, and related mouse phenotype cardiovascular system.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Ehlers-Danlos syndrome 6: A connective tissue disorder characterized by generalized joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis already present at birth, ocular manifestations, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development.

Related Diseases for Ehlers-Danlos Syndrome, Type Vi

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Diseases in the Ehlers-Danlos Syndrome family:

ehlers-danlos syndrome, type vi Ehlers-Danlos Syndrome, Type Iv
Ehlers-Danlos Syndrome, Type Viic Ehlers-Danlos Syndrome, Type Viib
Ehlers-Danlos Syndrome, Type Viii Ehlers-Danlos Syndrome, Type Iii
Type I Ehlers-Danlos Syndrome Autosomal Recessive Type Iv Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 5 Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Via

Diseases related to Ehlers-Danlos Syndrome, Type Vi via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, type viib30.2COL1A1, COL5A1
2ehlers-danlos syndrome, classic type30.1COL1A1, COL5A1
3ehlers-danlos syndrome11.1
4ehlers-danlos syndrome, musculocontractural type10.5
5ehlers-danlos syndrome, type iv10.4
6anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
7adult syndrome10.4
8brittle cornea syndrome 210.4
9brittle cornea syndrome 110.4
10skin conditions10.4
11skin disease10.4
12vascular skin disease10.4
13phototoxic dermatitis10.4
14collagen disease10.4
15connective tissue disease10.4
16corneal disease10.4
17globe disease10.4
18meningitis10.4
19retinitis10.4
20vascular hemostatic disease10.4
21factor v leiden thrombophilia10.4
22ehlers-danlos syndrome kyphoscoliosis type10.4
23ehlers-danlos syndrome, kyphoscoliotic form10.4
24adducted thumbs dundar type10.4
25chiari malformation type 210.4
26ehlers-danlos syndrome type 510.4
27vascular malformation10.4
28hypotonia10.3
29keratoconus10.2
30oral mucosa leukoplakia10.1COL5A1, PLOD1
31autosomal dominant microcephaly10.1COL1A1, COL5A1
32caffey disease10.1COL1A1, COL5A1
33ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.1
34osteogenesis imperfecta, type ii10.1COL1A1, COL5A1
35mental retardation, autosomal recessive 3510.1COL1A1, COL5A1
36osteogenesis imperfecta, type iii10.1COL1A1, COL5A1
37congenital craniosynostosis maternal hyperthyroiditis10.1CHST14, PLOD1
38osteogenesis imperfecta, type iv10.1COL1A1, COL5A1
39ehlers-danlos syndrome type via10.0
40ehlers-danlos syndrome, type viic10.0
41ehlers-danlos syndrome, type iii10.0
42scoliosis10.0
43aneurysm10.0
44xanthinuria10.0COL1A1, PLOD1
45osteoporosis9.9COL1A1, COL5A1, PLOD1
46constipation9.9COL1A1, COL5A1, PLOD1
47colon adenocarcinoma9.8CHST14, COL1A1, COL5A1, PLOD1
48ehrlichiosis9.8CHST14, COL1A1, COL5A1, PLOD1
49ehlers-danlos syndrome, type vi8.7CHD4, CHST14, COL15A1, COL1A1, COL5A1, COL8A2

Graphical network of the top 20 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:

 51 (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 epiphysis morphology 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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Drugs for Ehlers-Danlos Syndrome, Type Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2
Riboflavinapproved, nutraceutical13883-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
Hyre
Lactobene
 
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavin
Riboflavin phosphate sodium dihydrate
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
e101
3Vitamin B Complex2775
4Vitamin B9Nutraceutical2851
5Vitamin B2Nutraceutical138
6FolateNutraceutical2851

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Association With Peptic Ulcer Disease and Hepatic Vein Pressure GradientCompletedNCT01944878
2Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIEnrolling by invitationNCT01307527

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


Cochrane evidence based reviews: Ehlers-Danlos syndrome type 6

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 Syndrome22

Anatomical Context for Ehlers-Danlos Syndrome, Type Vi

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

33
Skin, Eye, Bone, Heart

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

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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Type Vi:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1CHST14, COL15A1, COL1A1, COL5A1, PLOD1

Publications for Ehlers-Danlos Syndrome, Type Vi

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Articles related to Ehlers-Danlos Syndrome, Type Vi:

(show all 23)
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
22
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. (2112090)
1990
23
Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI. (3110540)
1987

Variations for Ehlers-Danlos Syndrome, Type Vi

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

67
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:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1PLOD1NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter)single nucleotide variantPathogenicrs121913550GRCh37Chr 1, 12018684: 12018684
2PLOD1NG_008159.1: g.(30134_30285)_(38781_39030)dupduplicationPathogenicGRCh38Chr 1, 11959822: 11968718
3PLOD1NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg)single nucleotide variantPathogenicrs121913551GRCh37Chr 1, 12034713: 12034713
4PLOD1NM_000302.3(PLOD1): c.1594_1596delGAG (p.Glu532del)deletionPathogenicrs797044446GRCh37Chr 1, 12026317: 12026319
5PLOD1NM_000302.3(PLOD1): c.1651-2delAdeletionPathogenicrs797044447GRCh37Chr 1, 12027042: 12027042
6PLOD1NG_008159.1: g.(38547_38558)_(41961_41972)deldeletionPathogenicGRCh38Chr 1, 11968235: 11971660
7PLOD1NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter)single nucleotide variantPathogenicrs121913552GRCh37Chr 1, 12025599: 12025599
8PLOD1NM_000302.3(PLOD1): c.579+1G> Asingle nucleotide variantPathogenicrs797044448GRCh38Chr 1, 11952736: 11952736
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_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)single nucleotide variantPathogenicrs764139968GRCh37Chr 16, 88503146: 88503146
12ZNF469NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)single nucleotide variantPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
13ZNF469NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)single nucleotide variantPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
14PRDM5PRDM5, 52.46-KB DELdeletionPathogenic
15PRDM5NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)single nucleotide variantPathogenicrs387907110GRCh37Chr 4, 121616391: 121616391
16PRDM5PRDM5, IVS1DS, G-A, +1single nucleotide variantPathogenic
17PRDM5NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)single nucleotide variantPathogenicrs387907111GRCh37Chr 4, 121742481: 121742481
18PRDM5PRDM5, 1-BP DEL, 947GdeletionPathogenic
19PRDM5PRDM5, IVS1DS, T-C, +2single nucleotide variantPathogenic
20ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
21ZNF469ZNF469, 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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GO Terms for genes affiliated with Ehlers-Danlos Syndrome, Type Vi

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Cellular components related to Ehlers-Danlos Syndrome, Type Vi according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.3COL1A1, COL5A1, COL8A2
2basement membraneGO:00056048.9COL15A1, COL5A1, COL8A2
3collagen trimerGO:00055818.6COL15A1, COL1A1, COL5A1, COL8A2
4extracellular matrixGO:00310128.6COL15A1, COL1A1, COL5A1, COL8A2
5endoplasmic reticulum lumenGO:00057888.3COL15A1, COL1A1, COL5A1, COL8A2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:003296410.1COL1A1, COL5A1
2blood vessel developmentGO:00015689.8COL1A1, COL5A1
3collagen fibril organizationGO:00301999.8COL1A1, COL5A1
4skin developmentGO:00435889.7COL1A1, COL5A1
5extracellular matrix disassemblyGO:00226178.6COL15A1, COL1A1, COL5A1, COL8A2
6collagen catabolic processGO:00305748.3COL15A1, COL1A1, COL5A1, COL8A2
7extracellular matrix organizationGO:00301988.2COL15A1, COL1A1, COL5A1, COL8A2, PLOD1

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.6COL1A1, COL5A1
2extracellular matrix structural constituentGO:00052018.3COL15A1, COL1A1, COL5A1, COL8A2

Sources for Ehlers-Danlos Syndrome, Type Vi

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet