MCID: EHL054
MIFTS: 46

Ehlers-Danlos Syndrome, Type Vi malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Type Vi

About this section

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 67 65
Type Vi Ehlers-Danlos Syndrome 10 12
Ehlers-Danlos Syndrome Type 6 36 65
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 Vib 45
Eds Via 67
Eds Vi 67
Eds6a 67
Eds6 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ehlers-danlos syndrome, type vi:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 225400
Disease Ontology10 DOID:14775
SNOMED-CT59 25606004
Orphanet51 90354
ICD10 via Orphanet28 Q79.6
MedGen34 C0268342
UMLS65 C0268342, C0268344, C2936777

Summaries for Ehlers-Danlos Syndrome, Type Vi

About this section
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, classic type and brittle cornea syndrome 2, and has symptoms including arterial dissection, kyphosis and scoliosis. 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 Protein digestion and absorption. Affiliated tissues include skin, eye and bone.

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

About this section

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 top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type30.2COL1A1, COL5A1
2brittle cornea syndrome 212.8
3brittle cornea syndrome 112.7
4ehlers-danlos syndrome kyphoscoliosis type12.5
5ehlers-danlos syndrome, kyphoscoliotic form11.9
6ehlers-danlos syndrome type via11.5
7dirofilariasis10.4
8lung cancer10.4
9hyperprolactinemia10.4
10keratitis10.4
11gastric cancer10.4
12mastitis10.4
13endomyocardial fibrosis10.4
14cryptosporidiosis10.4
15adenocarcinoma10.4
16gastric adenocarcinoma10.4
17polycythemia10.4
18rubella10.4
19rectal prolapse10.4
20congenital cytomegalovirus10.4
21congenital rubella10.4
22eosinophilic mastitis10.4
23hypereosinophilic syndrome10.4
24pulmonary sequestration10.4
25tracheobronchomalacia10.4
26cardiomyopathy10.4
27stromal keratitis10.4
28ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.3
29burns10.3
30duodenal ulcer10.3
31bullous pemphigoid10.3
32duodenitis10.3
33ovarian hyperstimulation syndrome10.3
34hereditary angioedema10.3
35angioedema10.3
36vasculitis10.3
37polyarteritis nodosa10.3
38ehlers-danlos syndrome, type iv10.2
39ehlers-danlos syndrome, type viic10.2
40ehlers-danlos syndrome, type viib10.2
41ehlers-danlos syndrome, type iii10.2
42ehlers-danlos syndrome10.2
43cholangiocarcinoma10.1
44intrahepatic cholangiocarcinoma10.1
45keratopathy10.1PRDM5, ZNF469
46autosomal dominant microcephaly10.1COL1A1, COL5A1
47yellow fever10.1COL5A1, PLOD1
48branchiootic syndrome10.0COL1A1, PLOD1, PLOD2
49aplastic anemia10.0
50nervous system disease10.0

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

About this section

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 86)
id Description Frequency HPO Source Accession
1 arterial dissection hallmark (90%) HP:0005294
2 kyphosis hallmark (90%) HP:0002808
3 scoliosis hallmark (90%) HP:0002650
4 aortic dissection hallmark (90%) HP:0002647
5 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
6 abnormality of the mitral valve hallmark (90%) HP:0001633
7 joint hypermobility hallmark (90%) HP:0001382
8 joint dislocation hallmark (90%) HP:0001373
9 gait disturbance hallmark (90%) HP:0001288
10 muscular hypotonia hallmark (90%) HP:0001252
11 atypical scarring of skin hallmark (90%) HP:0000987
12 myopia hallmark (90%) HP:0000545
13 corneal dystrophy hallmark (90%) HP:0001131
14 decreased corneal thickness hallmark (90%) HP:0100689
15 decreased corneal thickness typical (50%) HP:0100689
16 hernia of the abdominal wall typical (50%) HP:0004299
17 abnormality of the hip bone typical (50%) HP:0003272
18 subcutaneous hemorrhage typical (50%) HP:0001933
19 abnormality of coagulation typical (50%) HP:0001928
20 hyperextensible skin typical (50%) HP:0000974
21 retinal detachment typical (50%) HP:0000541
22 visual impairment typical (50%) HP:0000505
23 glaucoma typical (50%) HP:0000501
24 retinopathy typical (50%) HP:0000488
25 microcornea typical (50%) HP:0000482
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 talipes occasional (7.5%) HP:0001883
36 corneal dystrophy occasional (7.5%) HP:0001131
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 progressive congenital scoliosis HP:0008458
50 palmoplantar cutis laxa HP:0007517
51 recurrent pneumonia HP:0006532
52 decreased pulmonary function HP:0005952
53 depressed nasal bridge HP:0005280
54 kyphosis HP:0002808
55 gastrointestinal hemorrhage HP:0002239
56 respiratory insufficiency HP:0002093
57 abnormality of metabolism/homeostasis HP:0001939
58 premature rupture of membranes HP:0001788
59 pes planus HP:0001763
60 talipes equinovarus HP:0001762
61 congestive heart failure HP:0001635
62 decreased fetal movement HP:0001558
63 disproportionate tall stature HP:0001519
64 joint laxity HP:0001388
65 joint dislocation HP:0001373
66 motor delay HP:0001270
67 muscular hypotonia HP:0001252
68 arachnodactyly HP:0001166
69 molluscoid pseudotumors HP:0000993
70 bruising susceptibility HP:0000978
71 soft skin HP:0000977
72 hyperextensible skin HP:0000974
73 thin skin HP:0000963
74 osteoporosis HP:0000939
75 dental crowding HP:0000678
76 blindness HP:0000618
77 blue sclerae HP:0000592
78 keratoconus HP:0000563
79 myopia HP:0000545
80 retinal detachment HP:0000541
81 glaucoma HP:0000501
82 microcornea HP:0000482
83 epicanthus HP:0000286
84 tall stature HP:0000098
85 inguinal hernia HP:0000023
86 bladder diverticulum HP:0000015

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Type Vi

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical292459-30-36037
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, nutraceutical15083-88-5493570
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
3Liver Extracts3572
4Trace Elements3900
5Vitamin B Complex2847
6Vitamins3857
7Photosensitizing Agents374
8Micronutrients3901
9Dermatologic Agents4555
10Vitamin B9Nutraceutical2924
11Vitamin B2Nutraceutical150
12FolateNutraceutical2924

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

About this section

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

About this section

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

33
Skin, Eye, Bone, Heart, Brain, Cervix, Breast

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

About this section

Publications for Ehlers-Danlos Syndrome, Type Vi

About this section

Articles related to Ehlers-Danlos Syndrome, Type Vi:

(show all 23)
idTitleAuthorsYear
1
Time-Dependent Discrepancies between Assessments of Sensory Function after Incomplete Cervical Spinal Cord Injury. (27203696)
2016
2
Mid-term results of different aortic valve-sparing procedures in Marfan syndrome. (22645855)
2012
3
Individual differences in the efficacy of a short theory of mind intervention for children with autism spectrum disorder: a randomized controlled trial. (23140338)
2012
4
Nd: Yag laser treatment for sub-hyaloid hemorrhage in childhood acute leukemia. (22344006)
2012
5
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. (21479228)
2011
6
Spontaneous closure of retinal pigment epithelium microrip in the natural course of central serous chorioretinopathy. (19648895)
2010
7
Therapy for pneumonitis and sialadenitis by accumulation of CCR2-expressing CD4+CD25+ regulatory T cells in MRL/lpr mice. (17284325)
2007
8
Expression of matrix metalloproteinase (MMP-2) and extracellular matrix metalloproteinases inducer (EMMPRIN) in benign and advanced breast cancer tissue samples]. (18035727)
2007
9
Agonists of toll-like receptors 2 and 4 activate airway smooth muscle via mononuclear leukocytes. (15657467)
2005
10
Identification of a novel NF-kappaB-binding site with regulation of the murine alpha2(I) collagen promoter. (14722113)
2004
11
Detection and characterization of measles virus strains in cases of subacute sclerosing panencephalitis in Croatia. (14687946)
2004
12
Regulation of NGFI-B expression during the ovulatory process. (12770726)
2003
13
Challenges for clinical trials to treat progressive multifocal leukoencephalopathy. (12709875)
2003
14
Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. (12150339)
2002
15
A model of Gambian sleeping sickness with open vector populations. (11453470)
2001
16
Analysis of HLA-DRB1 allele polymorphism for patients with allergic rhinitis]. (12764804)
1999
17
Primary malignant melanoma of the cervix uteri. (15512438)
1999
18
Responses of atrial natriuretic peptide and brain natriuretic peptide to exercise in patients with chronic heart failure and normal control subjects. (9134374)
1997
19
Fascin, a sensitive new marker for Reed-Sternberg cells of hodgkin's disease. Evidence for a dendritic or B cell derivation? (9033270)
1997
20
A minimally invasive palliative approach to advanced pancreatic and papillary cancer causing both biliary and duodenal obstruction. (8776834)
1996
21
Solubilization of keratin debris in conservative treatment of middle ear cholesteatoma: an in vitro study. (7513006)
1994
22
High glucose condition activates protein tyrosine phosphatases and deactivates insulin receptor function in insulin-sensitive rat 1 fibroblasts. (8198614)
1994
23
Lennox-Gastaut syndrome and computerized axial tomography findings. (303994)
1977

Variations for Ehlers-Danlos Syndrome, Type Vi

About this section

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 11)
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
6PLOD1NM_000302.3(PLOD1): c.1756_1902deldeletionPathogenicGRCh38Chr 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
11PLOD1NM_000302.3(PLOD1): c.136C> Tsingle nucleotide variantLikely pathogenicrs138698098GRCh37Chr 1, 12008092: 12008092

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

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

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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.3COL15A1, COL5A1
2basement membraneGO:00056049.0COL15A1, COL5A1

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

idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:00015689.8COL1A1, COL5A1
2collagen catabolic processGO:00305749.5COL1A1, COL5A1
3skin developmentGO:00435889.2COL1A1, COL5A1
4extracellular matrix disassemblyGO:00226178.9COL15A1, COL1A1, COL5A1

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.8PLOD1, PLOD2

Sources for Ehlers-Danlos Syndrome, Type Vi

About this section
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