MCID: EHL054
MIFTS: 42

Ehlers-Danlos Syndrome, Type Vi 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 51 12
Nevo Syndrome 69 67
Eds Vi 69 49
Ehlers-Danlos Syndrome Kyphoscoliotic Type 69
Ehlers-Danlos Syndrome Oculoscoliotic Type 69
 
Ehlers-Danlos Syndrome Type 6 67
Ehlers-Danlos Syndrome 6 69
Eds Via 69
Eds6a 69
Eds6 69

Characteristics:

HPO:

63
ehlers-danlos syndrome, type vi:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 225400
MedGen36 C0268342
MeSH38 D004535

Summaries for Ehlers-Danlos Syndrome, Type Vi

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OMIM:51 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, kyphoscoliosis 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 Lysine degradation and Degradation of the extracellular matrix. Affiliated tissues include skin, heart and bone.

UniProtKB/Swiss-Prot:69 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 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:

 63 (show all 54)
id Description HPO Frequency HPO Source Accession
1 myopia63 hallmark (90%) HP:0000545
2 atypical scarring of skin63 hallmark (90%) HP:0000987
3 muscular hypotonia63 hallmark (90%) HP:0001252
4 gait disturbance63 hallmark (90%) HP:0001288
5 joint dislocation63 hallmark (90%) HP:0001373
6 joint hypermobility63 hallmark (90%) HP:0001382
7 abnormality of the mitral valve63 hallmark (90%) HP:0001633
8 abnormality of metabolism/homeostasis63 hallmark (90%) HP:0001939
9 aortic dissection63 hallmark (90%) HP:0002647
10 scoliosis63 hallmark (90%) HP:0002650
11 kyphosis63 hallmark (90%) HP:0002808
12 arterial dissection63 hallmark (90%) HP:0005294
13 microcornea63 typical (50%) HP:0000482
14 retinopathy63 typical (50%) HP:0000488
15 glaucoma63 typical (50%) HP:0000501
16 visual impairment63 typical (50%) HP:0000505
17 retinal detachment63 typical (50%) HP:0000541
18 hyperextensible skin63 typical (50%) HP:0000974
19 abnormality of coagulation63 typical (50%) HP:0001928
20 subcutaneous hemorrhage63 typical (50%) HP:0001933
21 abnormality of the hip bone63 typical (50%) HP:0003272
22 hernia of the abdominal wall63 typical (50%) HP:0004299
23 decreased corneal thickness63 typical (50%) HP:0100689
24 corneal dystrophy63 occasional (7.5%) HP:0001131
25 talipes63 occasional (7.5%) HP:0001883
26 bladder diverticulum63 HP:0000015
27 inguinal hernia63 HP:0000023
28 tall stature63 HP:0000098
29 epicanthus63 HP:0000286
30 keratoconus63 HP:0000563
31 blue sclerae63 HP:0000592
32 blindness63 HP:0000618
33 dental crowding63 HP:0000678
34 osteoporosis63 HP:0000939
35 thin skin63 HP:0000963
36 soft skin63 HP:0000977
37 bruising susceptibility63 HP:0000978
38 molluscoid pseudotumors63 HP:0000993
39 arachnodactyly63 HP:0001166
40 motor delay63 HP:0001270
41 joint laxity63 HP:0001388
42 disproportionate tall stature63 HP:0001519
43 decreased fetal movement63 HP:0001558
44 congestive heart failure63 HP:0001635
45 talipes equinovarus63 HP:0001762
46 pes planus63 HP:0001763
47 premature rupture of membranes63 HP:0001788
48 respiratory insufficiency63 HP:0002093
49 gastrointestinal hemorrhage63 HP:0002239
50 depressed nasal bridge63 HP:0005280
51 decreased pulmonary function63 HP:0005952
52 recurrent pneumonia63 HP:0006532
53 palmoplantar cutis laxa63 HP:0007517
54 progressive congenital scoliosis63 HP:0008458

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


joint laxity

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_approved427959-30-36037
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_approved16583-88-5493570
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 Complex4229
4Vitamins5095
5Dermatologic Agents5674
6Trace Elements5802
7Micronutrients5802
8Photosensitizing Agents476
9Vitamin B9Nutraceutical4279
10Vitamin B2Nutraceutical165
11FolateNutraceutical4279

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 Nevo Syndrome24

Anatomical Context for Ehlers-Danlos Syndrome, Type Vi

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

35
Skin, Heart, Bone, Eye

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 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
Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. (10686424)
2000
10
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. (11001813)
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
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
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:

69
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

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:00064649.3PLOD1, PLOD2
2cellular response to hormone stimulusGO:00328709.2PLOD1, PLOD2
3response to hypoxiaGO:00016669.0PLOD1, PLOD2

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

idNameGO IDScoreTop Affiliating Genes
1procollagen-lysine 5-dioxygenase activityGO:00084759.3PLOD1, PLOD2
2L-ascorbic acid bindingGO:00314189.0PLOD1, PLOD2

Sources for Ehlers-Danlos Syndrome, Type Vi

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet