MCID: EHL001
MIFTS: 51

Ehlers-Danlos Syndrome malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome

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Aliases & Descriptions for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 10 68 45 23 47 12 35 65 36
Eds 68 45 23
Ehlers Danlos Disease 23 24
Elastic Skin 10 47
 
Ehlers Danlos Syndrome 45
Cutis Hyperelastica 10
Ed Syndrome 45


Classifications:



External Ids:

Disease Ontology10 DOID:13359
NCIt42 C34568
ICD9CM29 756.83
MeSH36 D004535
ICD1027 Q79.6

Summaries for Ehlers-Danlos Syndrome

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NIH Rare Diseases:45 Ehlers-danlos syndrome (eds) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. there are 6 major forms of eds: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. although other forms of the condition exist, they are extremely rare and are not well-characterized. the signs and symptoms of eds vary by type and range from mildly loose joints to life-threatening complications. features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. changes (mutations) in a variety of genes may lead to eds; however, the underlying genetic cause in some families is unknown. depending on the subtype, eds may be inherited in an autosomal dominant or an autosomal recessive manner. there is no specific cure for eds. the treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. last updated: 5/22/2015

MalaCards based summary: Ehlers-Danlos Syndrome, also known as eds, is related to ehlers-danlos syndrome, type iv and ehlers-danlos syndrome, type viib. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen, Type III, Alpha 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Inflammatory Response Pathway. Affiliated tissues include skin, bone and colon, and related mouse phenotypes are skeleton and integument.

Disease Ontology:10 A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. eds has five cardinal signs, which may be present to some degree in all of the subtypes. these five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

Genetics Home Reference:23 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

MedlinePlus:35 Ehlers-danlos syndrome (eds) is a group of inherited disorders that weaken connective tissues. connective tissues are proteins that support skin, bones, blood vessels, and other organs. eds usually affects your skin, joints and blood vessel walls. symptoms include loose joints fragile, small blood vessels abnormal scar formation and wound healing soft, velvety, stretchy skin that bruises easily there are several types of eds. they can range from mild to life-threatening. about 1 in 5,000 people has eds. there is no cure. treatment involves managing symptoms, often with medicines and physical therapy. it also includes learning how to protect your joints and prevent injuries.

Related Diseases for Ehlers-Danlos Syndrome

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 681)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, type iv32.4COL3A1, COL5A1
2ehlers-danlos syndrome, type viib31.7COL1A1, COL1A2, COL5A1
3ehlers-danlos syndrome, type vi31.5CHST14, COL1A1, COL5A1, PLOD1
4ehlers-danlos syndrome, classic type31.4COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
5ehlers-danlos syndrome, spondylocheirodysplastic type31.0CHST14, DSE
6xanthinuria30.5COL1A1, COL1A2, PLOD1
7osteoporosis30.3COL1A1, COL1A2, COL5A1, PLOD1
8constipation29.8ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, PLOD1
9hypermobility syndrome11.1
10ehlers-danlos syndrome, type iii11.0
11aneurysm11.0
12ehlers-danlos syndrome, type viic10.9
13ehlers-danlos syndrome, type viii10.9
14ehlers-danlos syndrome, type vii10.8
15ehlers-danlos syndrome progeroid type10.8
16ehlers-danlos syndrome due to tenascin x deficiency10.8
17ehlers-danlos syndrome, musculocontractural type10.8
18ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
19ehlers-danlos syndrome, musculocontractural type 110.7
20ehlers-danlos syndrome, progeroid type, 110.7
21type i ehlers-danlos syndrome10.7
22connective tissue disease10.7
23ehlers-danlos syndrome, musculocontractural type 210.7
24spondylocheirodysplasia, ehlers-danlos syndrome-like10.7
25ehlers-danlos syndrome kyphoscoliosis type10.7
26ehlers-danlos syndrome, progeroid type, 210.7
27adult syndrome10.7
28skin conditions10.7
29skin disease10.7
30osteogenesis imperfecta10.7
31vascular skin disease10.7
32collagen disease10.7
33vascular hemostatic disease10.7
34factor v leiden thrombophilia10.7
35ehlers-danlos syndrome, kyphoscoliotic form10.7
36vascular malformation10.7
37ehlers-danlos syndrome, cardiac valvular form10.6
38cervicitis10.6
39ehlers-danlos syndrome, cardiac valvular type10.6
40ehlers-danlos syndrome, kyphoscoliotic and deafness type10.6
41ehlers-danlos syndrome, fibronectinemic type10.6
42occipital horn syndrome10.6
43aortic aneurysm10.6
44periodontitis10.6
45ehlers-danlos syndrome type 510.6
46ehlers-danlos syndrome, dysfibronectinemic type10.6
47ehlers-danlos syndrome type via10.6
48chronic pain10.6
49ehlers-danlos syndrome, arthrochalasic type10.6
50impotence10.6

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:



Diseases related to ehlers-danlos syndrome

Symptoms for Ehlers-Danlos Syndrome

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Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1CeliprololPhase 42
2
Irbesartanapproved, investigationalPhase 395138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
3
CopperPhase 31437440-50-827099
Synonyms:
 
Copper
Cu
4Angiotensin II Type 1 Receptor BlockersPhase 3928
5
Angiotensin IIPhase 398568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
6histidineNutraceuticalPhase 331
7
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
8
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
9Vitamin B Complex2775
10Vitamin B9Nutraceutical2851
11Vitamin B2Nutraceutical138
12FolateNutraceutical2851

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular TypeCompletedNCT00190411Phase 4
2Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE)RecruitingNCT02597361Phase 3
3Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper DeficiencyRecruitingNCT00811785Phase 3
4Mind-Body Therapy for Pain in Ehlers-Danlos SyndromeCompletedNCT00001966Phase 2
5Obstructive Sleep Apnoea in Ehlers-Danlos SyndromeCompletedNCT02435745
6Biomarkers in Vascular Ehlers-Danlos SyndromeCompletedNCT02165085
7Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in LifeCompletedNCT01367977
8Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)CompletedNCT01356134
9Study of Heritable Connective Tissue DisordersCompletedNCT00001641
10Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
11IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos PatientsCompletedNCT01446783
12Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear ImagingCompletedNCT01096264
13Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos SyndromeRecruitingNCT02144532
14Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
15Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia SyndromeRecruitingNCT02196376
16Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
17Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
18National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
19Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIEnrolling by invitationNCT01307527
20Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in LifeWithdrawnNCT01377805

Search NIH Clinical Center for Ehlers-Danlos Syndrome


Cochrane evidence based reviews: Ehlers-Danlos Syndrome

Genetic Tests for Ehlers-Danlos Syndrome

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Genetic tests related to Ehlers-Danlos Syndrome:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome24

Anatomical Context for Ehlers-Danlos Syndrome

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MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

33
Skin, Bone, Colon, Eye, Lung, Liver, Testes

Animal Models for Ehlers-Danlos Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0ADAMTS2, CHST14, COL1A1, COL1A2, COL5A2, SLC39A13
2MP:00107716.4ADAMTS2, CHST14, COL1A1, COL1A2, COL3A1, COL5A1

Publications for Ehlers-Danlos Syndrome

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Articles related to Ehlers-Danlos Syndrome:

(show top 50)    (show all 808)
idTitleAuthorsYear
1
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. (26497932)
2015
2
Perioperative Hemostatic Management in Ehlers-Danlos Syndrome: A Report of 2 Cases and Literature Review. (26334432)
2015
3
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. (25821096)
2015
4
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. (25821092)
2015
5
Transforming Growth Factor-I^ (TGF-I^) and Inflammation in Vascular (Type IV) Ehlers Danlos Syndrome. (24399159)
2014
6
Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. (25156902)
2014
7
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. (25514270)
2014
8
A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. (25266621)
2014
9
Total knee arthroplasty after former knee fusion in a patient with Ehlers Danlos syndrome. (23926740)
2013
10
Successful surgical treatment of intramural aortoatrial fistula, severe aortic regurgitation, mitral prolapse, and tricuspid insufficiency in a patient with Ehlers-Danlos syndrome type IV. (22698604)
2012
11
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
12
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. (22787447)
2012
13
Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. (23016112)
2012
14
Commentary on: Shields LB, Rolf CM, Davis GJ, Hunsaker JC 3rd. Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV. J Forensic Sci 2010;55(6):1641-5. (21884125)
2011
15
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. (21420276)
2011
16
Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected]. (20186845)
2010
17
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (20533528)
2010
18
Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment. (21108838)
2010
19
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. (20518783)
2010
20
Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome. (18432503)
2008
21
A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. (18779970)
2008
22
Urological radiographic manifestations of the Ehlers-Danlos syndrome. (17706699)
2007
23
Endovascular repair of an iliac artery aneurysm in a patient with Ehlers-Danlos syndrome type IV. (17210404)
2007
24
Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. (17890912)
2007
25
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. (16843123)
2006
26
Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis. (16669972)
2006
27
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. (16492673)
2006
28
Clinical features of Ehlers-Danlos syndrome. (16801035)
2006
29
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). (16583246)
2006
30
Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? (15813560)
2005
31
Non-adjacent spondylolisthesis in ehlers-danlos syndrome. (15552563)
2004
32
Vascular Ehlers-Danlos syndrome. (15127738)
2004
33
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
34
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. (15523625)
2004
35
Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia. (12453701)
2002
36
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. (12417421)
2002
37
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (11642233)
2001
38
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. (10051163)
1999
39
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. (9425231)
1998
40
Respiratory complications of Ehlers-Danlos syndrome type IV. (9147885)
1996
41
Ehlers-Danlos syndrome type VII: phenotype and genotype. (7864655)
1994
42
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. (8019562)
1994
43
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. (8477261)
1993
44
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. (8320698)
1993
45
Ehlers-Danlos Syndrome Type IV (20301667)
1993
46
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. (1867198)
1991
47
Reduced strength of skin in Ehlers Danlos syndrome, type III. (2309105)
1990
48
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. (3277658)
1988
49
Clinical presentations of Ehlers Danlos syndrome type IV. (3178263)
1988
50
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder. (6705261)
1984

Variations for Ehlers-Danlos Syndrome

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Expression for genes affiliated with Ehlers-Danlos Syndrome

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome

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Pathways related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.6COL1A1, COL1A2, COL3A1
3
Show member pathways
9.6COL1A1, COL1A2, COL3A1
49.6COL1A1, COL1A2, COL3A1
59.6COL1A1, COL1A2, COL3A1
69.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
7
Show member pathways
9.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
89.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
99.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
10
Show member pathways
9.0B4GALT7, CHST14, DSE
11
Show member pathways
8.7COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB
128.7COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB
13
Show member pathways
8.3ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
14
Show member pathways
8.2B3GALT6, B4GALT7, CHST14, DSE
15
Show member pathways
8.2B3GALT6, B4GALT7, CHST14, DSE
16
Show member pathways
8.0ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

GO Terms for genes affiliated with Ehlers-Danlos Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.5COL1A1, COL1A2
2collagen type V trimerGO:000558810.5COL5A1, COL5A2
3proteinaceous extracellular matrixGO:00055789.1ADAMTS2, COL1A1, COL3A1, COL5A1, TNXB
4collagen trimerGO:00055819.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
5Golgi membraneGO:00001398.5B3GALT6, B4GALT7, CHST14, DSE
6endoplasmic reticulum lumenGO:00057888.4COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14
7extracellular regionGO:00055768.3ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
8extracellular matrixGO:00310127.6ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:003296410.5COL1A1, COL5A1
2skin morphogenesisGO:004358910.5COL1A1, COL1A2
3eye morphogenesisGO:004859210.5COL5A1, COL5A2
4negative regulation of endodermal cell differentiationGO:190322510.5COL5A1, COL5A2
5protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
6regulation of immune responseGO:00507769.8COL1A1, COL1A2, COL3A1
7receptor-mediated endocytosisGO:00068989.8COL1A1, COL1A2, COL3A1
8dermatan sulfate biosynthetic processGO:00302089.7CHST14, DSE
9heparan sulfate proteoglycan biosynthetic processGO:00150129.7B3GALT6, DSE
10blood vessel developmentGO:00015689.6COL1A1, COL1A2, COL3A1, COL5A1
11skeletal system developmentGO:00015019.6COL1A1, COL1A2, COL3A1, COL5A2
12extracellular fibril organizationGO:00432069.6B4GALT7, COL3A1, COL5A1, TNXB
13chondroitin sulfate biosynthetic processGO:00302069.6B3GALT6, DSE
14cellular response to amino acid stimulusGO:00712309.5COL1A1, COL1A2, COL3A1, COL5A2
15skin developmentGO:00435889.3ADAMTS2, COL1A1, COL3A1, COL5A1, COL5A2
16platelet activationGO:00301689.3COL1A1, COL1A2, COL3A1
17extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
18collagen catabolic processGO:00305748.8ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
19collagen fibril organizationGO:00301998.6ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
20carbohydrate metabolic processGO:00059758.6B3GALT6, B4GALT7, CHST14, DSE
21glycosaminoglycan metabolic processGO:00302038.6B3GALT6, B4GALT7, CHST14, DSE
22chondroitin sulfate metabolic processGO:00302048.6B3GALT6, B4GALT7, CHST14, DSE
23extracellular matrix organizationGO:00301988.0ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.8COL3A1, COL5A1, TNXB
2galactosyltransferase activityGO:00083789.7B3GALT6, B4GALT7
3SMAD bindingGO:00463329.6COL1A2, COL3A1, COL5A2
4platelet-derived growth factor bindingGO:00484079.3COL1A1, COL1A2, COL3A1, COL5A1
5extracellular matrix structural constituentGO:00052018.7COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

Sources for Ehlers-Danlos Syndrome

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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