EDS6
MCID: EHL054
MIFTS: 45

Ehlers-Danlos Syndrome, Type Vi (EDS6) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases

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 52 12
Nevo Syndrome 48 24 70 68
Eds Via 48 24 70
Ehlers-Danlos Syndrome Oculoscoliotic Type 48 70
Eds Vi 70 50
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 48
Ehlers-Danlos Syndrome, Oculoscoliotic Type 48
Ehlers-Danlos Syndrome, Kyphoscoliosis Type 48
Ehlers-Danlos Syndrome Kyphoscoliotic Type 70
Kyphoscoliotic Ehlers-Danlos Syndrome 48
 
Ehlers-Danlos Syndrome Type Via 24
Ehlers-Danlos Syndrome Type 6a 48
Ehlers-Danlos Syndrome Type 6 68
Eds, Oculoscoliotic Type 48
Eds, Kyphoscoliotic Type 48
Ehlers-Danlos Syndrome 6 70
Kyphoscoliotic Eds 48
Eds6a 70
Eds6 70
Keds 48

Characteristics:

HPO:

64
ehlers-danlos syndrome, type vi:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 225400
MedGen37 C0268342
MeSH39 D004535

Summaries for Ehlers-Danlos Syndrome, Type Vi

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OMIM:52 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 nevo syndrome, is related to ehlers-danlos syndrome, kyphoscoliotic form and ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, and has symptoms including joint laxity, bladder diverticulum and inguinal hernia. 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 Lysine degradation and Collagen chain trimerization. Affiliated tissues include skin, heart and bone, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

NIH Rare Diseases:48 Kyphoscoliotic ehlers-danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. kyphoscoliosis eds is caused by changes (mutations) in the plod1 gene or the fkbp14 gene  and it is inherited in an autosomal recessive manner. treatment is focused on preventing serious complications and relieving associated signs and symptoms. last updated: 4/20/2017

UniProtKB/Swiss-Prot:70 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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Graphical network of diseases related to Ehlers-Danlos Syndrome, Type Vi:



Diseases related to ehlers-danlos syndrome, type vi

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Type Vi

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Symptoms by clinical synopsis from OMIM:

225400

Clinical features from OMIM:

225400

Human phenotypes related to Ehlers-Danlos Syndrome, Type Vi:

 64 (show all 53)
id Description HPO Frequency HPO Source Accession
1 bladder diverticulum64 HP:0000015
2 inguinal hernia64 HP:0000023
3 tall stature64 HP:0000098
4 epicanthus64 HP:0000286
5 microcornea64 HP:0000482
6 glaucoma64 HP:0000501
7 retinal detachment64 HP:0000541
8 myopia64 HP:0000545
9 keratoconus64 HP:0000563
10 blue sclerae64 HP:0000592
11 blindness64 HP:0000618
12 dental crowding64 HP:0000678
13 osteoporosis64 HP:0000939
14 thin skin64 HP:0000963
15 hyperextensible skin64 HP:0000974
16 soft skin64 HP:0000977
17 bruising susceptibility64 HP:0000978
18 molluscoid pseudotumors64 HP:0000993
19 arachnodactyly64 HP:0001166
20 muscular hypotonia64 HP:0001252
21 motor delay64 HP:0001270
22 joint dislocation64 HP:0001373
23 joint laxity64 HP:0001388
24 disproportionate tall stature64 HP:0001519
25 decreased fetal movement64 HP:0001558
26 congestive heart failure64 HP:0001635
27 talipes equinovarus64 HP:0001762
28 pes planus64 HP:0001763
29 premature rupture of membranes64 HP:0001788
30 abnormality of metabolism/homeostasis64 HP:0001939
31 respiratory insufficiency64 HP:0002093
32 gastrointestinal hemorrhage64 HP:0002239
33 kyphosis64 HP:0002808
34 depressed nasal bridge64 HP:0005280
35 decreased pulmonary function64 HP:0005952
36 recurrent pneumonia64 HP:0006532
37 palmoplantar cutis laxa64 HP:0007517
38 progressive congenital scoliosis64 HP:0008458
39 retinopathy64 HP:0000488
40 visual impairment64 HP:0000505
41 atypical scarring of skin64 HP:0000987
42 corneal dystrophy64 HP:0001131
43 gait disturbance64 HP:0001288
44 neonatal hypotonia64 HP:0001319
45 mitral valve prolapse64 HP:0001634
46 subcutaneous hemorrhage64 HP:0001933
47 aortic dissection64 HP:0002647
48 scoliosis64 HP:0002650
49 generalized joint laxity64 HP:0002761
50 abnormality of the hip bone64 HP:0003272
51 arterial dissection64 HP:0005294
52 joint hyperflexibility64 HP:0005692
53 spontaneous rupture of the globe64 HP:0010727

UMLS symptoms related to Ehlers-Danlos Syndrome, Type Vi:


joint laxity

GenomeRNAi Phenotypes related to Ehlers-Danlos Syndrome, Type Vi according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.0PLOD1, PLOD2

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approved439259-30-36037
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 (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, nutraceutical, vet_approved17483-88-5493570
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)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
3Vitamin B Complex4337
4Vitamins5282
5Dermatologic Agents5806
6Trace Elements6001
7Micronutrients6001
8Photosensitizing Agents492
9Vitamin B9Nutraceutical4392
10Vitamin B2Nutraceutical174
11FolateNutraceutical4392

Interventional clinical trials:

idNameStatusNCT IDPhase
1Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIUnknown statusNCT01307527

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 Ehlers-Danlos Syndrome Type Via24 PLOD1
2 Nevo Syndrome24

Anatomical Context for Ehlers-Danlos Syndrome, Type Vi

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

36
Skin, Heart, Bone, Eye

Publications for Ehlers-Danlos Syndrome, Type Vi

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Articles related to Ehlers-Danlos Syndrome, Type Vi:

(show all 24)
idTitleAuthorsYear
1
Blunt aortic trauma in a patient with the Ehlers-Danlos syndrome type VI. (26956239)
2016
2
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? (23056730)
2010
3
Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI. (18158597)
2007
4
Orthodontic treatment protocol of Ehlers-Danlos syndrome type VI. (16448289)
2006
5
A case of Ehlers Danlos syndrome type VI. (17100196)
2006
6
Successful mitral valve replacement in a patient with Ehlers-Danlos syndrome type VI. (15975394)
2005
7
Corneal perforation with minor trauma: Ehlers-Danlos syndrome type VI. (16156158)
2005
8
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
9
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
10
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
11
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. (11001813)
2000
12
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. (10686424)
2000
13
Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. (9893157)
1999
14
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
15
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). (9617436)
1998
16
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
17
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
18
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
19
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
20
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. (8163671)
1994
21
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
22
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. (1345174)
1992
23
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
24
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:

70
id Symbol AA change Variation ID SNP ID
1PLOD1p.Trp612CysVAR_006355rs121913553
2PLOD1p.Gly678ArgVAR_006356rs121913551
3PLOD1p.Trp446GlyVAR_023466
4PLOD1p.Ala667ThrVAR_023467rs199730384
5PLOD1p.His706ArgVAR_023468

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

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PLOD1NM_ 000302.3(PLOD1): c.955C> T (p.Arg319Ter)SNVPathogenicrs121913550GRCh37Chr 1, 12018684: 12018684
2PLOD1NG_ 008159.1: g.(30134_ 30285)_ (38781_ 39030)dupduplicationPathogenicGRCh38Chr 1, 11959822: 11968718
3PLOD1NM_ 000302.3(PLOD1): c.2032G> A (p.Gly678Arg)SNVPathogenicrs121913551GRCh37Chr 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
6PLOD1NM_ 000302.3(PLOD1): c.1756_ 1902deldeletionPathogenicGRCh38Chr 1, 11968235: 11971660
7PLOD1NM_ 000302.3(PLOD1): c.1533C> G (p.Tyr511Ter)SNVPathogenicrs121913552GRCh37Chr 1, 12025599: 12025599
8PLOD1NM_ 000302.3(PLOD1): c.579+1G> ASNVPathogenicrs797044448GRCh37Chr 1, 12012793: 12012793
9PLOD1NM_ 000302.3(PLOD1): c.1836G> C (p.Trp612Cys)SNVPathogenicrs121913553GRCh37Chr 1, 12030807: 12030807
10PLOD1NM_ 000302.3(PLOD1): c.2008C> T (p.Arg670Ter)SNVPathogenicrs121913554GRCh37Chr 1, 12033034: 12033034
11PLOD1NM_ 000302.3(PLOD1): c.327delG (p.Arg111Glyfs)deletionPathogenicrs886042976GRCh37Chr 1, 12010438: 12010438
12PLOD1NM_ 000302.3(PLOD1): c.402delA (p.Asp135Thrfs)deletionPathogenicrs886043926GRCh37Chr 1, 12010513: 12010513
13PLOD1NM_ 000302.3(PLOD1): c.1470+2T> CSNVPathogenicrs886043927GRCh37Chr 1, 12024844: 12024844

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
1rough endoplasmic reticulum membraneGO:00308679.0PLOD1, PLOD2
2endoplasmic reticulumGO:00057838.7COL1A1, PLOD1, PLOD2

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:00064649.6PLOD1, PLOD2
2hydroxylysine biosynthetic processGO:00469479.6PLOD1, PLOD2
3peptidyl-lysine hydroxylationGO:00171859.6PLOD1, PLOD2
4protein O-linked glycosylationGO:00064939.6PLOD1, PLOD2
5response to hypoxiaGO:00016669.0PLOD1, PLOD2

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

idNameGO IDScoreTop Affiliating Genes
1dioxygenase activityGO:00512139.6PLOD1, PLOD2
2iron ion bindingGO:00055069.6PLOD1, PLOD2
3L-ascorbic acid bindingGO:00314189.5PLOD1, PLOD2
4oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167059.2PLOD1, PLOD2
5procollagen glucosyltransferase activityGO:00338239.0PLOD1, PLOD2
6procollagen-lysine 5-dioxygenase activityGO:00084759.0PLOD1, PLOD2

Sources for Ehlers-Danlos Syndrome, Type Vi

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet