MCID: EHL001
MIFTS: 61

Ehlers-Danlos Syndrome malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome

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Aliases & Descriptions for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 11 69 46 24 13 48 36 37 66
Ehlers Danlos Disease 24 25
Elastic Skin 11 48
Eds 46 24
 
Ehlers Danlos Syndrome 46
Cutis Hyperelastica 11
Ed Syndrome 46

Classifications:



External Ids:

Disease Ontology11 DOID:13359
ICD1028 Q79.6
ICD9CM30 756.83
MeSH37 D004535
NCIt43 C34568

Summaries for Ehlers-Danlos Syndrome

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NIH Rare Diseases:46 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: 3/20/2016

MalaCards based summary: Ehlers-Danlos Syndrome, also known as ehlers danlos disease, is related to ehlers-danlos syndrome, type iv and ehlers-danlos syndrome, type vi, and has symptoms including back pain, back pain and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Amoebiasis. Affiliated tissues include skin, bone and testes, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:11 A collagen 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:24 Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

MedlinePlus:36 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.

Wikipedia:69 Ehlers–Danlos syndrome (EDS) is a group of genetic connective tissue disorders. Symptoms can vary from... more...

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
Ehlers-Danlos Syndrome, Type V Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 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 210)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, type iv35.2COL3A1, COL5A1
2ehlers-danlos syndrome, type vi34.8COL1A1, PLOD1
3ehlers-danlos syndrome, cardiac valvular form34.5COL1A1, COL1A2
4ehlers-danlos syndrome, classic type34.4COL1A1, COL1A2, COL5A1, COL5A2
5adducted thumbs dundar type32.2CHST14, DSE
6ehlers-danlos syndrome, type viib12.8
7ehlers-danlos syndrome, type iii12.8
8ehlers-danlos syndrome, type viic12.7
9ehlers-danlos syndrome, type viii12.7
10ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss12.7
11ehlers-danlos syndrome due to tenascin x deficiency12.6
12ehlers-danlos syndrome progeroid type12.6
13spondylocheirodysplasia, ehlers-danlos syndrome-like12.6
14ehlers-danlos syndrome, musculocontractural type12.5
15ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality12.5
16ehlers-danlos syndrome, kyphoscoliosis type12.5
17ehlers-danlos syndrome, type v12.4
18ehlers-danlos syndrome, musculocontractural type 212.4
19ehlers-danlos syndrome, kyphoscoliotic form12.4
20ehlers-danlos syndrome, progeroid type, 112.4
21ehlers-danlos syndrome, progeroid type, 212.4
22ehlers-danlos syndrome, musculocontractural type 112.4
23ehlers-danlos syndrome, type vii12.3
24ehlers-danlos syndrome, vascular-like type12.3
25ehlers-danlos syndrome type via12.3
26type i ehlers-danlos syndrome12.3
27autosomal recessive type iv ehlers-danlos syndrome12.2
28ehlers-danlos syndrome, cardiac valvular type12.2
29ehlers-danlos syndrome, spondylocheirodysplastic type12.2
30ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency12.2
31ehlers-danlos syndrome, classic type, col1a1-related12.1
32ehlers-danlos syndrome, classic type, col5a1-related12.1
33ehlers-danlos syndrome, classic type, col5a2-related12.1
34brittle cornea syndrome12.0
35occipital horn syndrome12.0
36heterotopia, periventricular, ed variant11.9
37joint laxity, familial11.7
38brittle cornea syndrome 111.6
39ehlers-danlos-like syndrome due to tenascin-x deficiency11.4
40hypermobility syndrome10.9
41aneurysm10.8
42connective tissue disease10.7
43infundibulo-neurohypophysitis10.6COL1A1, COL1A2
44immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive10.6COL3A1, TNXB
45contractures-webbed neck-micrognathia-hypoplastic nipples syndrome10.6COL1A1, COL1A2
46pex7-related refsum disease10.6COL1A1, COL1A2
47respiratory distress syndrome in premature infants10.6COL5A1, PLOD1
48osteogenesis imperfecta, type iv10.6COL1A1, COL1A2
49lipoic acid synthetase deficiency10.5COL1A2, COL3A1
50mental retardation, autosomal recessive 3510.5COL1A1, COL1A2

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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UMLS symptoms related to Ehlers-Danlos Syndrome:


back pain, muscle cramp, sciatica

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CeliprololPhase 4256980-93-9
Synonyms:
 
RS)-N'-{3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl}-N,N-diethylurea
2
CopperPhase 316615158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
3
protease inhibitorsPhase 35157
Synonyms:
 
protease inhibitors
4
IrbesartanPhase 399138402-11-63749
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
5
angiotensin IIPhase 3113568521-88-0, 11128-99-7172198, 65143
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 337
7serineNutraceuticalPhase 3883
8
RiboflavinNutraceutical15883-88-5493570
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
9
Folic AcidNutraceutical414359-30-36037
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
10FolateNutraceutical4143

Interventional clinical trials:

(show all 25)
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
5Patient Education Program and Ehlers-Danlos SyndromeCompletedNCT02817490
6Obstructive Sleep Apnoea in Ehlers-Danlos SyndromeCompletedNCT02435745
7Biomarkers in Vascular Ehlers-Danlos SyndromeCompletedNCT02165085
8Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in LifeCompletedNCT01367977
9Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)CompletedNCT01356134
10Study of Heritable Connective Tissue DisordersCompletedNCT00001641
11Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
12IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos PatientsCompletedNCT01446783
13Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear ImagingCompletedNCT01096264
14Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos SyndromeRecruitingNCT02712060
15Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos SyndromeRecruitingNCT02144532
16Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
17Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
18The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in ChildrenRecruitingNCT02854098
19Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain PatientsRecruitingNCT02761928
20Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
21National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
22Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia SyndromeActive, not recruitingNCT02196376
23Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIEnrolling by invitationNCT01307527
24Origins and Impact of EDS in Connective Tissues and SkinNot yet recruitingNCT02721797
25Head 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 Syndrome25

Anatomical Context for Ehlers-Danlos Syndrome

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MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

34
Skin, Bone, Testes, Colon, Lung, Liver, Breast

Animal Models for Ehlers-Danlos Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4CHST14, COL1A1, COL1A2, DSE, PLOD1
2MP:00053907.6ADAMTS2, CHST14, COL1A1, COL1A2, COL5A2, PLOD1
3MP:00053786.4ADAMTS2, CHST14, COL1A1, COL1A2, COL3A1, COL5A1
4MP:00107716.3ADAMTS2, 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 865)
idTitleAuthorsYear
1
A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome. (27656288)
2016
2
Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome. (27206743)
2016
3
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. (26879370)
2016
4
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
5
Perioperative Hemostatic Management in Ehlers-Danlos Syndrome: A Report of 2 Cases and Literature Review. (26334432)
2015
6
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. (25821096)
2015
7
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. (25821092)
2015
8
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. (25758994)
2015
9
Transforming Growth Factor-I^ (TGF-I^) and Inflammation in Vascular (Type IV) Ehlers Danlos Syndrome. (24399159)
2014
10
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. (25514270)
2014
11
A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. (25266621)
2014
12
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). (25053156)
2014
13
Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology. (23920413)
2013
14
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. (22739343)
2013
15
Classic Ehlers-Danlos syndrome: case report and brief review of literature. (24001420)
2013
16
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
17
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
18
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
19
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. (21420276)
2011
20
Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. (21982893)
2011
21
Reassessment of oral frenula in Ehlers-Danlos syndrome: a study of 32 patients with the hypermobility type. (22065619)
2011
22
Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected]. (20186845)
2010
23
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (20533528)
2010
24
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
25
Assessment of skin extensibility and joint hypermobility in patients with spontaneous cervical artery dissection and Ehlers-Danlos syndrome. (18400501)
2008
26
Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome associated with postural orthostatic tachycardia syndrome. (18617391)
2008
27
Urological radiographic manifestations of the Ehlers-Danlos syndrome. (17706699)
2007
28
Endovascular repair of an iliac artery aneurysm in a patient with Ehlers-Danlos syndrome type IV. (17210404)
2007
29
Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. (17890912)
2007
30
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
31
Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? (15813560)
2005
32
Epidural analgesia in a parturient with classic type Ehlers-Danlos syndrome. (15627549)
2005
33
Vascular Ehlers-Danlos syndrome. (15127738)
2004
34
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. (14679583)
2004
35
Emergent bullectomy for acute respiratory failure in Ehlers-Danlos syndrome. (15523121)
2004
36
Ehlers-Danlos syndrome, classical type: case management. (15624708)
2004
37
Increased carotid wall stress in vascular Ehlers-Danlos syndrome. (15007000)
2004
38
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. (11532373)
2001
39
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
40
Carotid-Cavernous Fistula Associated with Ehlers-Danlos Syndrome Type IV. A Case Report and Review of Literature. (20670529)
1999
41
Respiratory complications of Ehlers-Danlos syndrome type IV. (9147885)
1996
42
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. (9147870)
1996
43
Ehlers-Danlos syndrome type VII: phenotype and genotype. (7864655)
1994
44
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. (8071956)
1994
45
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. (1867198)
1991
46
Reduced strength of skin in Ehlers Danlos syndrome, type III. (2309105)
1990
47
Clinical presentations of Ehlers Danlos syndrome type IV. (3178263)
1988
48
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. (3049731)
1988
49
Lethal forms of hereditary collagen disorders: Ehlers-Danlos syndrome type IV and congenital osteogenesis imperfecta. (7163269)
1982
50
EHLERS-DANLOS SYNDROME ASSOCIATED WITH ACQUIRED ENCEPHALOCELE. (14288460)
1965

Variations for Ehlers-Danlos Syndrome

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Copy number variations for Ehlers-Danlos Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11973305176600000180915260GainEhlers-danlos syndrome

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 pathwaysScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.6COL1A1, COL1A2, COL3A1
39.6COL1A1, COL1A2, COL3A1
4
Show member pathways
9.6COL1A1, COL1A2, COL3A1
59.6COL1A1, COL1A2, COL3A1
69.6COL1A1, COL1A2, COL3A1
79.6COL1A1, COL1A2, COL3A1
89.6COL1A1, COL1A2, COL3A1
9
Show member pathways
9.5COL1A1, COL1A2, TNXB
10
Show member pathways
9.4B4GALT7, CHST14, DSE
11
Show member pathways
9.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
129.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
13
Show member pathways
8.8B3GALT6, B4GALT7, CHST14, DSE
14
Show member pathways
8.7COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB
15
Show member pathways
7.4ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
16
Show member pathways
7.2ADAMTS2, 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 V trimerGO:000558810.5COL5A1, COL5A2
2rough endoplasmic reticulum membraneGO:003086710.4PLOD1, PLOD3
3collagen type I trimerGO:000558410.4COL1A1, COL1A2
4collagen trimerGO:00055819.5COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
5proteinaceous extracellular matrixGO:00055788.8ADAMTS2, COL1A1, COL3A1, COL5A1, TNXB
6extracellular matrixGO:00310128.6B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
7endoplasmic reticulum lumenGO:00057888.6COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14
8extracellular regionGO:00055768.2ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1eye morphogenesisGO:004859210.4COL5A1, COL5A2
2negative regulation of endodermal cell differentiationGO:190322510.4COL5A1, COL5A2
3collagen biosynthetic processGO:003296410.4COL1A1, COL5A1
4skin morphogenesisGO:004358910.3COL1A1, COL1A2
5protein heterotrimerizationGO:007020810.3COL1A1, COL1A2
6regulation of immune responseGO:005077610.0COL1A1, COL1A2, COL3A1
7glycosaminoglycan metabolic processGO:00302039.9B3GALT6, B4GALT7
8extracellular fibril organizationGO:00432069.9B4GALT7, COL3A1, COL5A1, TNXB
9cellular protein modification processGO:00064649.9B4GALT7, PLOD1, PLOD3
10platelet activationGO:00301689.8COL1A1, COL1A2, COL3A1
11dermatan sulfate biosynthetic processGO:00302089.7CHST14, DSE
12blood vessel developmentGO:00015689.6COL1A1, COL1A2, COL3A1, COL5A1
13skeletal system developmentGO:00015019.4COL1A1, COL1A2, COL3A1, COL5A2
14chondroitin sulfate biosynthetic processGO:00302069.4B3GALT6, DSE
15cellular response to amino acid stimulusGO:00712309.3COL1A1, COL1A2, COL3A1, COL5A2
16heparan sulfate proteoglycan biosynthetic processGO:00150129.2B3GALT6, DSE
17extracellular matrix organizationGO:00301989.1COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
18skin developmentGO:00435889.0ADAMTS2, COL1A1, COL3A1, COL5A1, COL5A2
19collagen catabolic processGO:00305748.6ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
20collagen fibril organizationGO:00301997.6ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

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

idNameGO IDScoreTop Affiliating Genes
1procollagen-lysine 5-dioxygenase activityGO:000847510.3PLOD1, PLOD3
2integrin bindingGO:00051789.7COL3A1, COL5A1, TNXB
3L-ascorbic acid bindingGO:00314189.6PLOD1, PLOD3
4platelet-derived growth factor bindingGO:00484079.6COL1A1, COL1A2, COL3A1, COL5A1
5SMAD bindingGO:00463329.6COL1A2, COL3A1, COL5A2
6extracellular matrix structural constituentGO:00052019.3COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

Sources for Ehlers-Danlos Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet