EDS
MCID: EHL001
MIFTS: 63

Ehlers-Danlos Syndrome (EDS) 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 25 50 38 39 13 68
Ehlers Danlos Disease 25 27
Elastic Skin 11 50
Eds 48 25
 
Ehlers-Danlos Syndromes 48
Ehlers Danlos Syndrome 48
Cutis Hyperelastica 11
Ed Syndrome 48

Classifications:



External Ids:

Disease Ontology11 DOID:13359
ICD1030 Q79.6
ICD9CM32 756.83
MeSH39 D004535
NCIt45 C34568

Summaries for Ehlers-Danlos Syndrome

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NIH Rare Diseases:48 Ehlers-danlos syndromes (eds) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. the new classification, from 2017, includes 13 subtypes of eds. although other forms of the condition may 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. 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. please visit the following link from the ehlers-danlos society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/   last updated: 4/20/2017

MalaCards based summary: Ehlers-Danlos Syndrome, also known as ehlers danlos disease, is related to ehlers-danlos syndrome, classic type 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 AGE-RAGE signaling pathway in diabetic complications. Affiliated tissues include skin, bone and colon, and related mouse phenotypes are cardiovascular system and skeleton.

MedlinePlus:38 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.

Genetics Home Reference:25 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.

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.

Wikipedia:71 Ehlers–Danlos syndrome (EDS) is a group of genetic connective tissue disorders. Symptoms may... 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 Ii

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, classic type34.6COL3A1, COL5A1
2ehlers-danlos syndrome, type vi34.4COL1A1, PLOD1
3ehlers-danlos syndrome, progeroid type, 233.8B3GALT6, B4GALT7
4xanthinuria30.1COL1A1, COL1A2, PLOD1
5ehlers-danlos syndrome, type iv12.8
6ehlers-danlos syndrome, type viib12.8
7ehlers-danlos syndrome, type iii12.8
8ehlers-danlos syndrome, type viic12.7
9ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss12.7
10ehlers-danlos syndrome due to tenascin x deficiency12.6
11ehlers-danlos syndrome, type viii12.6
12spondylocheirodysplasia, ehlers-danlos syndrome-like12.5
13ehlers-danlos syndrome, cardiac valvular form12.5
14musculocontractural ehlers-danlos syndrome12.5
15ehlers-danlos syndrome, progeroid type, 112.5
16spondylodysplastic ehlers-danlos syndrome12.5
17periodontal ehlers-danlos syndrome12.5
18ehlers-danlos syndrome, musculocontractural type 112.5
19ehlers-danlos syndrome, musculocontractural type 212.5
20hypermobile ehlers-danlos syndrome12.5
21ehlers-danlos syndrome, periodontal type 212.4
22classical-like ehlers-danlos syndrome12.4
23ehlers-danlos syndrome type ii12.4
24ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality12.4
25type i ehlers-danlos syndrome12.3
26ehlers-danlos syndrome, type v12.3
27ehlers-danlos syndrome, kyphoscoliotic form12.3
28ehlers-danlos syndrome, type vii12.2
29ehlers-danlos syndrome, vascular-like type12.1
30cardiac-valvular ehlers-danlos syndrome12.1
31autosomal recessive type iv ehlers-danlos syndrome12.1
32ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency12.1
33ehlers-danlos syndrome, periodontal type 112.1
34ehlers-danlos syndrome, classic type, col1a1-related12.0
35ehlers-danlos syndrome, classic type, col5a1-related12.0
36ehlers-danlos syndrome, classic type, col5a2-related12.0
37occipital horn syndrome12.0
38brittle cornea syndrome 111.7
39brittle cornea syndrome 211.7
40connective tissue disease11.4
41heterotopia, periventricular, ed variant11.4
42joint laxity, familial11.4
43flna-related periventricular nodular heterotopia11.2
44cutis laxa, ad11.1
45aortic aneurysm, familial thoracic 111.1
46cutis laxa, autosomal recessive, type ia11.1
47pneumothorax, primary spontaneous11.1
48cutis laxa, autosomal recessive, type ic11.1
49heterotopia, periventricular11.1
50auditory neuropathy11.1

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



Diseases related to ehlers-danlos syndrome

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

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UMLS symptoms related to Ehlers-Danlos Syndrome:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
2MP:00053907.8ADAMTS2, CHST14, COL1A1, COL1A2, COL5A2, PLOD1
3MP:00053787.4ADAMTS2, CHST14, COL1A1, COL1A2, COL3A1, COL5A1
4MP:00107716.9ADAMTS2, CHST14, COL1A1, COL1A2, COL3A1, COL5A1

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 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Celiprololapproved, investigationalPhase 4256980-93-9
Synonyms:
 
RS)-N'-{3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl}-N,N-diethylurea
2Adrenergic AgentsPhase 45352
3Peripheral Nervous System AgentsPhase 423689
4Vasodilator AgentsPhase 43543
5Autonomic AgentsPhase 410150
6Neurotransmitter AgentsPhase 418340
7Antihypertensive AgentsPhase 4, Phase 34207
8Adrenergic AntagonistsPhase 41573
9Adrenergic beta-1 Receptor AntagonistsPhase 4364
10Anti-Arrhythmia AgentsPhase 43093
11Adrenergic beta-AntagonistsPhase 41193
12
Irbesartanapproved, investigationalPhase 3102138402-11-63749
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
13
CopperapprovedPhase 318115158-11-9, 7440-50-827099
Synonyms:
 
Copper
Cu
14MicronutrientsPhase 36001
15Trace ElementsPhase 36001
16Serine Proteinase InhibitorsPhase 3878
17Vasoconstrictor AgentsPhase 32122
18
Angiotensin IIPhase 3117868521-88-0, 11128-99-765143, 172198
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
19Angiotensin II Type 1 Receptor BlockersPhase 31091
20Angiotensin Receptor AntagonistsPhase 31191
21AngiotensinogenPhase 31177
22HIV Protease InhibitorsPhase 35470
23
protease inhibitorsPhase 35471
Synonyms:
 
protease inhibitors
24serineNutraceuticalPhase 3954
25histidineNutraceuticalPhase 345
26
Acetylcholineapproved80551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
27
Ethanolapproved213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
28
Riboflavinapproved, nutraceutical, vet_approved17483-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
29
Folic Acidapproved, nutraceutical, vet_approved439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
30Vitamins5282
31Vitamin B Complex4337
32Photosensitizing Agents492
33Dermatologic Agents5806
34Antibodies6394
35Immunoglobulins6394
36FolateNutraceutical4392
37Vitamin B9Nutraceutical4392
38Vitamin B2Nutraceutical174

Interventional clinical trials:

(show all 27)
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
5Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos SyndromeUnknown statusNCT02144532
6Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIUnknown statusNCT01307527
7Patient Education Program and Ehlers-Danlos SyndromeCompletedNCT02817490
8Biomarkers in Vascular Ehlers-Danlos SyndromeCompletedNCT02165085
9Obstructive Sleep Apnoea in Ehlers-Danlos SyndromeCompletedNCT02435745
10Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos SyndromeCompletedNCT02712060
11Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in LifeCompletedNCT01367977
12Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)CompletedNCT01356134
13IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos PatientsCompletedNCT01446783
14Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear ImagingCompletedNCT01096264
15Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
16Study of Heritable Connective Tissue DisordersCompletedNCT00001641
17National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
18Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesCompletedNCT02213484
19Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanRecruitingNCT02985710
20Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
21Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
22The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in ChildrenRecruitingNCT02854098
23Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia SyndromeActive, not recruitingNCT02196376
24Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain PatientsActive, not recruitingNCT02761928
25Origins and Impact of EDS in Connective Tissues and SkinEnrolling by invitationNCT02721797
26Genetics of Ehlers-Danlos SyndromeNot yet recruitingNCT03093493
27Head 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 Syndrome27

Anatomical Context for Ehlers-Danlos Syndrome

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MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

36
Skin, Bone, Colon, Lung, Liver, Testes, Breast

Publications for Ehlers-Danlos Syndrome

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Articles related to Ehlers-Danlos Syndrome:

(show top 50)    (show all 910)
idTitleAuthorsYear
1
Multiple perforation of small-intestine diverticula in a patient with Ehlers-Danlos syndrome. (27990838)
2017
2
Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. (28484680)
2017
3
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. (28086259)
2017
4
Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. (28035354)
2017
5
Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness. (28488622)
2017
6
Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. (28077691)
2017
7
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? (28286774)
2017
8
Ehlers-Danlos syndrome, classical type. (28192633)
2017
9
Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. (28073822)
2017
10
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. (28422173)
2017
11
Spontaneous coronary artery intramural hematoma in a patient with vascular Ehlers-Danlos syndrome: Serial findings in coronary computed tomographic angiography. (28342678)
2017
12
The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. (28306230)
2017
13
Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort. (28436618)
2017
14
Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. (28387435)
2017
15
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. (28211643)
2017
16
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. (27905128)
2017
17
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). (28482718)
2017
18
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. (28238810)
2017
19
Mast cell disorders in Ehlers-Danlos syndrome. (28261938)
2017
20
Carotid Cavernous Fistula in a Patient with Type IV Ehlers-Danlos Syndrome. (28228175)
2017
21
Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. (28186393)
2017
22
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. (27931013)
2017
23
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. (28266107)
2017
24
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. (28482708)
2017
25
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. (28051109)
2017
26
Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome. (27743500)
2017
27
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. (28306228)
2017
28
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. (28485813)
2017
29
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. (27094596)
2016
30
Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice? (27149643)
2016
31
Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn. (27295357)
2016
32
Bone involvement in adult patients affected with Ehlers-Danlos syndrome. (27084695)
2016
33
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. (26897449)
2016
34
Teaching NeuroImages: Carotid cavernous fistula in a patient with Ehlers-Danlos syndrome. (27572437)
2016
35
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. (27799058)
2016
36
Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study. (27604811)
2016
37
Laryngological presentations of Ehlers-Danlos syndrome: case series of nine patients from two London tertiary referral centres. (27434416)
2016
38
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. (27824552)
2016
39
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. (26646600)
2016
40
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. (27488172)
2016
41
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. (26879370)
2016
42
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. (27745832)
2016
43
Revision pediatric anterior cruciate ligament reconstruction after failure of iliotibial band technique treated with all-epiphyseal technique in a prepubescent with Ehlers-Danlos syndrome: a case report. (26986031)
2016
44
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back. (26872206)
2016
45
Perisigmoid Abscess Leading to a Diagnosis of Ehlers-Danlos Syndrome Type IV. (26958560)
2016
46
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. (27292226)
2016
47
Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. (27931023)
2016
48
Facelift for an Ehlers-Danlos Syndrome Patient: A Case Report. (26879302)
2016
49
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. (26919608)
2016
50
Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III. (28005189)
2016

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 15)
idSuper pathwaysScoreTop 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
69.6COL1A1, COL1A2, COL3A1
79.6COL1A1, COL1A2, COL3A1
89.6COL1A1, COL1A2, COL3A1
9
Show member pathways
9.5COL1A1, COL1A2, TNXB
109.1COL1A2, COL3A1, COL5A1, COL5A2, TNXB
11
Show member pathways
9.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
12
Show member pathways
8.8COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB
13
Show member pathways
8.6B3GALT6, B4GALT7, CHST14, DSE
14
Show member pathways
8.0ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
15
Show member pathways
7.7ADAMTS2, 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:000558810.7COL5A1, COL5A2
2collagen type I trimerGO:000558410.6COL1A1, COL1A2
3collagen trimerGO:00055819.8COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
4rough endoplasmic reticulum membraneGO:00308679.8PLOD1, PLOD3
5extracellular matrixGO:00310129.2ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
6extracellular spaceGO:00056159.1ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
7endoplasmic reticulum lumenGO:00057889.0COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14
8proteinaceous extracellular matrixGO:00055788.6ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
9endoplasmic reticulumGO:00057838.1COL1A1, COL1A2, DSE, FKBP14, PLOD1, PLOD3
10Golgi apparatusGO:00057947.9B3GALT6, B4GALT7, CHST14, COL1A1, DSE, PLOD3

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:003296410.6COL1A1, COL5A1
2eye morphogenesisGO:004859210.6COL5A1, COL5A2
3negative regulation of endodermal cell differentiationGO:190322510.6COL5A1, COL5A2
4hydroxylysine biosynthetic processGO:004694710.4PLOD1, PLOD3
5peptidyl-lysine hydroxylationGO:001718510.4PLOD1, PLOD3
6protein heterotrimerizationGO:007020810.4COL1A1, COL1A2
7glycosaminoglycan metabolic processGO:003020310.3B3GALT6, B4GALT7
8chondroitin sulfate biosynthetic processGO:003020610.2B3GALT6, DSE
9platelet activationGO:003016810.2COL1A1, COL1A2, COL3A1
10heparan sulfate proteoglycan biosynthetic processGO:001501210.2B3GALT6, DSE
11dermatan sulfate biosynthetic processGO:003020810.1CHST14, DSE
12skin morphogenesisGO:004358910.1COL1A1, COL1A2
13blood vessel developmentGO:000156810.0COL1A1, COL1A2, COL3A1, COL5A1
14cellular response to amino acid stimulusGO:007123010.0COL1A1, COL1A2, COL3A1, COL5A2
15skeletal system developmentGO:00015019.8COL1A1, COL1A2, COL3A1, COL5A2
16supramolecular fiber organizationGO:00974359.7B4GALT7, COL3A1, COL5A1
17extracellular matrix organizationGO:00301989.4COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB
18skin developmentGO:00435889.4ADAMTS2, COL1A1, COL3A1, COL5A1, COL5A2
19collagen catabolic processGO:00305749.3ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
20collagen fibril organizationGO:00301998.6ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid bindingGO:003141810.6PLOD1, PLOD3
2integrin bindingGO:000517810.5COL3A1, COL5A1, TNXB
3galactosyltransferase activityGO:000837810.4B3GALT6, B4GALT7
4procollagen glucosyltransferase activityGO:003382310.3PLOD1, PLOD3
5procollagen-lysine 5-dioxygenase activityGO:000847510.3PLOD1, PLOD3
6protease bindingGO:000202010.0COL1A1, COL1A2, COL3A1
7platelet-derived growth factor bindingGO:00484079.9COL1A1, COL1A2, COL3A1, COL5A1
8extracellular matrix structural constituentGO:00052019.8COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
9SMAD bindingGO:00463329.6COL1A2, COL3A1, COL5A2
10metal ion bindingGO:00468727.4ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1

Sources for Ehlers-Danlos Syndrome

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