Ehlers-danlos Syndrome malady

NIH Rare Diseases: Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. An unusually large range of joint movement (hypermobility) occurs with most forms, particularly the hypermobility type. Many people with EDS also have soft, velvety skin that is highly elastic and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. Some forms of EDS, notably the vascular type and kyphoscoliosis type, can involve serious and potentially life-threatening complications. EDS may be caused by mutations in any one of several genes; the inheritance pattern varies by type.³⁰

MalaCards: Ehlers-danlos Syndrome, also known as ehlers-danlos syndrome, classic type, is related to ehlers-danlos syndrome type iv and type iii ehlers-danlos syndrome. An important gene associated with Ehlers-danlos Syndrome is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Cell adhesion_ECM remodeling and Cell adhesion ECM remodeling. The compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and t cells, and related mouse phenotypes are craniofacial and respiratory system.

Disease Ontology: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising.⁶

MedlinePlus: 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. it also includes learning how to protect your joints and prevent injuries.²³

Genetics Home Reference: 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.¹⁷

Wikipedia: Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica) is a group of inherited connective...⁴⁴ more...

OMIM: 130010

GeneReviews summary for eds

Aliases & Descriptions:

ehlers-danlos syndrome 6 7 15 30 17 8 32 23 43 ehlers-danlos syndrome, classic type 15 30 ehlers-danlos syndrome, type ii 33 32 classic ehlers-danlos syndrome 30 16 ehlers-danlos syndrome, type i 33 32 ehlers-danlos syndrome type 2 30 16 ehlers-danlos syndrome type 1 30 16 elastic skin 6 32 eds 30 17 ehlers-danlos syndrome, classical type 16 ehlers-danlos syndrome gravis type 16

ehlers-danlos syndrome mitis type 16 ehlers danlos syndrome 30 cutis hyperelastica 6 eds gravis type 16 eds mitis type 16 classical type 15 classical eds 16 classic eds 16 eds type ii 16 ed syndrome 30 eds type i 16

Disease types for ehlers-danlos syndrome family:

type vi ehlers-danlos syndrome	type iii ehlers-danlos syndrome
type i ehlers-danlos syndrome	ehlers-danlos syndrome type iv
ehlers-danlos syndrome type 5	ehlers-danlos syndrome type via
ehlers-danlos syndrome type viia	ehlers-danlos syndrome type viib
ehlers-danlos syndrome, type viii	ehlers-danlos syndrome, type viic

Diseases related to ehlers-danlos syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 465)

id	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome type iv	39.3	COL3A1, ELN
2	type iii ehlers-danlos syndrome	36.8	TNXB, COL3A1
3	ehlers-danlos syndrome type viib	35.4	CD36, COL1A2
4	ehlers-danlos syndrome kyphoscoliotic type	35.1	PLOD2, PLOD1
5	ehlers-danlos syndrome type viia	34.6	CD36, COL1A1, COL1A2
6	osteogenesis imperfecta	32.8	CD36, LOX, TNC, PLOD2, COL1A1, COL1A2
7	hypermobility syndrome	32.6	TNXA, TNXB, COL5A2, COL3A1
8	congenital contractures	31.2	CHST14, FBN1, PLOD1
9	clubfoot	31.0	CHST14, PLOD2, COL3A1, COL2A1, PITX1
10	retinal detachment	30.8	FN1, LOX, PLOD1, COL2A1, ELN
11	connective tissue disease	29.9	CD36, FBN1, LOX, TNXB, PLOD2, PLOD1
12	aortic aneurysm	29.4	FN1, FBN1, LOX, TNC, TNXB, COL1A2
13	breast cancer	29.4	XRCC1, GSTM1, GSTP1, GSTT1, ERCC2
14	osteoporosis	29.3	BGN, SCG5, CD36, FBN1, IGFBP1, LOX
15	hearing loss	28.8	CD36, FLNA, GSTM1, GSTT1, PLOD2, COL1A1
16	periodontitis	28.6	CD36, FN1, GSTM1, GSTT1, FBN1, TNXB
17	myocardial infarction	26.5	XRCC1, CD36, FN1, GSTM1, GSTP1, GSTT1
18	gingivitis	26.4	CD36, FN1, LOX, TNC, COL1A1, ELN
19	marfan syndrome	26.1	CD36, FBN1, LOX, COL5A2, COL1A2, COL3A1
20	hypoxia	26.1	XRCC1, CD36, FN1, GSTP1, IGFBP1, LOX
21	dentinogenesis imperfecta	26.1	CD36, TNC, PLOD2, COL1A1, COL1A2, DSPP
22	homocysteine	26.0	CD36, GSTM1, GSTP1, GSTT1, FBN1, LOX
23	diabetes mellitus	25.7	XRCC1, CFP, CD36, FN1, GSTM1, GSTP1
24	hypotonia	25.7	CHST14, FLNA, ERCC2, PLOD1, ACADS, HIBCH
25	keratoconus	25.5	ZNF469, FN1, LOX, TNC, COL8A2, DCN
26	prostatitis	25.2	SCG5, XRCC1, CD36, FN1, FLNA, GSTM1
27	vaginitis	24.9	BGN, FN1, GSTP1, IGFBP1, ELN, DSPP
28	breast cancer susceptibility	24.9	XRCC1, GSTM1, GSTP1, GSTT1, ERCC2
29	cleft palate	24.9	CD36, FN1, FLNA, GSTM1, GSTP1, GSTT1
30	hypertension	24.7	BGN, LAX1, CD36, FN1, GSTM1, GSTP1
31	sarcoma	24.7	XRCC1, CD36, FN1, GSTM1, GSTP1, GSTT1
32	hepatitis	24.6	XRCC1, CD36, FN1, FLNA, GSTM1, GSTP1
33	alzheimer's disease	24.4	BGN, SCG5, XRCC1, CFP, CD36, FN1
34	cataract	24.3	XRCC1, CD36, FN1, GSTM1, GSTT1, FBN1
35	rheumatoid arthritis	24.3	SCG5, XRCC1, CD36, FN1, GSTM1, GSTP1
36	arthritis	24.3	SCG5, XRCC1, CFP, CD36, FN1, GSTM1
37	chronic obstructive pulmonary disease	24.3	XRCC1, FN1, GSTM1, GSTP1, GSTT1, COL1A1
38	nephropathy	24.2	CFP, CD36, FN1, GSTM1, GSTP1, GSTT1
39	leiomyoma	24.2	XRCC1, CD36, GSTM1, IGFBP1, ERCC2, TNXB
40	cervicitis	24.0	PCOLCE, XRCC1, CD36, FN1, FLNA, GSTM1
41	carcinoma	23.8	SCG5, XRCC1, CD36, FN1, FLNA, GSTM1
42	colorectal cancer	23.8	SEMA6A, BGN, SCG5, XRCC1, CFP, CD36
43	melanoma	23.7	SCG5, XRCC1, CD36, FN1, FLNA, GSTM1
44	ovarian cancer	23.7	XRCC1, CD36, FN1, GSTM1, GSTP1, GSTT1
45	macular degeneration	23.7	XRCC1, CFP, CD36, FN1, GSTM1, GSTP1
46	thyroiditis	23.6	SCG5, CHST14, XRCC1, CD36, FN1, GSTM1
47	thyroid carcinoma	23.6	XRCC1, CD36, FN1, GSTM1, GSTP1, GSTT1
48	endometriosis	23.6	BGN, XRCC1, CD36, FN1, GSTM1, GSTP1
49	gastric cancer	23.6	BGN, XRCC1, CFP, FN1, GSTM1, GSTP1
50	endometrial cancer	23.5	XRCC1, CD36, GSTM1, GSTP1, GSTT1, IGFBP1

Clinical features from OMIM: 130010

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to ehlers-danlos syndrome:

²²

MGI Mouse Phenotypes related to ehlers-danlos syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.6	SLC39A13, DSPP, COL2A1, MC1R, FBN1, FLNA
2	respiratory system phenotype	MP:0005388	9.4	ADAMTS2, THBS2, ELN, COL2A1, COL3A1, PLOD3
3	skeleton phenotype	MP:0005390	9.1	COL2A1, DCN, PRDM5, SLC39A13, ADAMTS4, COL1A2
4	limbs/digits/tail phenotype	MP:0005371	8.9	THBS2, PITX1, COL2A1, COL1A2, COL1A1, MC1R
5	muscle phenotype	MP:0005369	8.6	COL3A1, COL5A3, PITX1, ACADS, ELN, THBS2
6	cardiovascular system phenotype	MP:0005385	8.5	COL1A2, COL3A1, COL2A1, COL5A1, PITX1, ELN
7	mortality/aging	MP:0010768	7.7	COL1A2, COL3A1, COL2A1, COL5A1, PITX1, ACADS
8	integument phenotype	MP:0010771	7.3	ADAMTS2, COL5A2, COL1A2, COL3A1, COL5A3, COL5A1
9	growth/size phenotype	MP:0005378	7.1	COL1A2, COL3A1, COL5A3, COL2A1, PITX1, DCN
10	behavior/neurological phenotype	MP:0005386	5.9	PLOD1, COL1A1, COL5A2, COL1A2, COL5A3, COL2A1

Articles related to ehlers-danlos syndrome:

(show top 50)    (show all 192)

id	Title	Authors	Year	Affiliating Genes
1	Biochemical and thermodynamic characterization of mut ated I^1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers- Danlos syndrome. (20809901)	Rahuel-Clermont S.... Lattard V.	2010	B4GALT7
2	Musculocontractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. (20842734)	Malfait F.... De Paepe A.	2010	CHST14
3	Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. (18485758)	Mandeville K.... Renton S.	2008	COL3A1
4	Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1. (18305566)	Viglio S.... Valli M.	2008	IGFBP1, COL5A1
5	Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. (18973246)	Bar-Yosef O.... Kuint J.	2008	ADAMTS2
6	Ehlers-Danlos syndrome type IV. (17640391)	Germain D.P.	2007	COL3A1
7	Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. (16407265)	Makareeva E.... Leikin S.	2006	COL1A1, CD36
8	A case of Ehlers Danlos syndrome type VI. (17100196)	Salavoura K.... Kitsiou S.	2006	PLOD1
9	Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). (15979919)	Giunta C.... Steinmann B.	2005	PLOD1
10	Ehlers-Danlos syndrome: correlation with headache disorders in a young woman. (16388346)	Di Palma F.... Cronin A.H.	2005	ELN
11	A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (15211654)	Faiyaz-Ul-Haque M.... Teebi A.S.	2004	B4GALT7
12	Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). (12969232)	De Coster P.J.... De Paepe A.	2003	ADAMTS2
13	Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. (12694234)	Kroes H.Y.... van Essen A.J.	2003	COL3A1
14	Clinical and genetic features of vascular Ehlers-Danlos syndrome. (12016538)	Germain D.P.	2002	COL3A1
15	Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. (12173720)	Hassan I.... Gloviczki P.	2002	COL3A1
16	COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. (11278977)	Bouma P.... Marini J.C.	2001	CD36, COL5A1
17	Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. (11577371)	Schwarze U.... Byers P.H.	2001	COL3A1
18	Compound heterozygosity for a disease-causing G1489E and disease- modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? (10602121)	Giunta C.... Steinmann B.	2000	COL5A1
19	Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. (10874315)	Yeowell H.N.... Myllyla R.	2000	PLOD1
20	Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. (9841712)	Collins M.H.... Byers P.H.	1999	COL3A1
21	Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (10417273)	Colige A.... Nusgens B.V.	1999	CFP, ADAMTS2
22	A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. (10329027)	Walker L.C.... Yeowell H.N.	1999	COL1A1, PLOD1
23	Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts. (10452818)	Zoppi N.... Colombi M.	1998	FN1
24	Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). (9617436)	Brinckmann J.... Kugler S.	1998	PLOD1
25	A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI. (9502428)	Pajunen L.... Myllyla R.	1998	PLOD1
26	A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. (9783710)	Richards A.J.... Burrows N.P.	1998	COL5A2
27	Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum. (9712532)	Hamel B.C.... Steijlen P.M.	1998	COL3A1
28	A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine. (9344473)	Yeowell H.N.... Pinnell S.R.	1997	PLOD1
29	Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. (9288108)	Burch G.H.... Bristow J.	1997	TNR, TNXB
30	Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. (8981946)	Heikkinen J.... Myllyla R.	1997	PLOD1
31	Collagen peptides in osteogenesis imperfecta, idiopat hic juvenile osteoporosis and Ehlers--Danlos syndrome. (8816205)	PrA^szyA8ska K.... Lorenc R.S.	1996	CD36
32	Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. (8884076)	Mackay K.... Dalgleish R.	1996	COL3A1
33	A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). (8923000)	Wenstrup R.J.... Cole W.G.	1996	COL5A1, COL5A2
34	Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. (7749417)	Tromp G.... Kuivaniemi H.	1995	COL3A1
35	Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation. (7546986)	Ades L.C.... Bateman J.F.	1995	COL3A1
36	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)	Carr A.J.... Cole W.G.	1994	COL1A2
37	Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone. (8186768)	Moro L.... Barlati S.	1994	FN1
38	A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. (8163671)	Ha V.T.... Yeowell H.N.	1994	PLOD1
39	Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. (7977351)	Pousi B.... Myllyla R.	1994	PLOD1
40	Ehlers-Danlos Syndrome, Kyphoscol iotic Form (20301635)	Yeowell H.N.... Steinmann B.	1993	PLOD1
41	A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. (1352273)	Richards A.J.... Pope F.M.	1992	COL3A1
42	Ehlers Danlos syndrome type I with novel dental featu res. (1432737)	Pope F.M.... MacKenzie J.L.	1992	DSPP
43	A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. (1556139)	Chiodo A.A.... Cole W.G.	1992	COL1A2
44	A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis. (1357232)	Johnson P.H.... Hopkinson D.A.	1992	COL3A1
45	G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. (1672129)	Lee B.... Ramirez F.	1991	COL3A1
46	Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case (1682078)	Wakai S.... Hayakawa T.	1991	LOX
47	Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. (1895316)	Richards A.J.... Pope F.M.	1991	COL3A1
48	A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. (1990839)	Vasan N.S.... Prockop D.J.	1991	COL1A1, COL1A2
49	Structural characteristics of collagens from the ski n and rib cartilage of patients with Ehlers-Danlos syndrome type II (2343586)	Sokolov B.P.... Kalinin V.N.	1990	CD36
50	Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. (1184396)	Steinmann B.... Sear C.H.	1975	PLOD1

Genes related to ehlers-danlos syndrome according to GeneCards:

(show top 50)    (show all 59)

id	Symbol	Description	Score	GeneCards Section Context
1	COL3A1	collagen, type III, alpha 1	11.2	Publications, Summaries, Aliases & Descriptions
2	PLOD1	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	11.1	Summaries, Aliases & Descriptions, Publications
3	COL1A2	collagen, type I, alpha 2	11.1	Publications, Summaries
4	COL1A1	collagen, type I, alpha 1	11.1	Summaries, Publications
5	COL5A1	collagen, type V, alpha 1	11.1	Publications, Summaries
6	COL5A2	collagen, type V, alpha 2	11.1	Publications, Summaries
7	B4GALT7	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	11.1	Orthologs, Publications, Summaries
8	ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	11.1	Summaries, Publications
9	TNXB	tenascin XB	11.1	Summaries, Publications
10	SLC39A13	solute carrier family 39 (zinc transporter), member 13	11.1	Publications, Summaries
11	EDS8	Ehlers-Danlos syndrome, type VIII	11.1	Aliases & Descriptions
12	PLOD3	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	11.1	Summaries, Publications
13	FKBP14	FK506 binding protein 14, 22 kDa	11.1	Summaries, Publications, Disorders
14	PLOD2	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	11.1	Publications, Summaries
15	COL5A3	collagen, type V, alpha 3	11.1	Summaries, Disorders, Publications
16	CD36	CD36 molecule (thrombospondin receptor)	11.1	Publications
17	CHST14	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	11.1	Publications
18	DSPP	dentin sialophosphoprotein	11.1	Publications
19	ZNF469	zinc finger protein 469	11.0
20	FLNA	filamin A, alpha	11.0	Publications
21	DCN	decorin	11.0	Publications
22	ELN	elastin	11.0	Publications
23	PRDM5	PR domain containing 5	11.0
24	FN1	fibronectin 1	11.0	Publications
25	COL2A1	collagen, type II, alpha 1	11.0
26	FBN1	fibrillin 1	11.0
27	OSGEPL1	O-sialoglycoprotein endopeptidase-like 1	11.0	Disorders
28	ORMDL1	ORM1-like 1 (S. cerevisiae)	11.0	Disorders
29	PCOLCE	procollagen C-endopeptidase enhancer	11.0
30	LAX1	lymphocyte transmembrane adaptor 1	11.0
31	COL8A2	collagen, type VIII, alpha 2	11.0
32	ASNSD1	asparagine synthetase domain containing 1	11.0
33	TMEM194B	transmembrane protein 194B	11.0	Disorders
34	CFP	complement factor properdin	11.0	Publications
35	TNXA	tenascin XA (pseudogene)	11.0
36	PITX1	paired-like homeodomain 1	11.0
37	DIRC1	disrupted in renal carcinoma 1	11.0
38	ACADS	acyl-CoA dehydrogenase, C-2 to C-3 short chain	11.0
39	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif, 4	11.0
40	WDR75	WD repeat domain 75	11.0	Disorders
41	BGN	biglycan	11.0
42	C2orf88	chromosome 2 open reading frame 88	11.0	Disorders
43	ANKAR	ankyrin and armadillo repeat containing	11.0	Disorders
44	MFSD6	major facilitator superfamily domain containing 6	11.0	Disorders
45	LOX	lysyl oxidase	11.0	Publications
46	THBS2	thrombospondin 2	11.0	Publications
47	SCG5	secretogranin V (7B2 protein)	11.0	Publications
48	SEMA6A	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	11.0
49	IGFBP1	insulin-like growth factor binding protein 1	11.0	Publications
50	ADAMTS14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	11.0

Pathways related to ehlers-danlos syndrome according to GeneDecks:

(show all 29)

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion_ECM remodeling41	10.3	COL2A1, COL3A1, COL1A2, COL1A1, FN1
2	Cell adhesion ECM remodeling10	10.2	COL2A1, COL3A1, COL1A2, COL1A1, FN1
3	Protein digestion and absorption20	10.2	ELN, COL5A1, COL2A1, COL5A3, COL3A1, COL1A2
4	Intrinsic Prothrombin Activation Pathway36	10.2	COL5A1, COL2A1, COL8A2, COL5A3, COL3A1, COL1A2
5	Blood Coagulation Cascade36	10.2	COL5A1, COL2A1, COL8A2, COL5A3, COL3A1, COL1A2
6	Cytoskeleton remodeling_Integrin outside-in signaling41	10.2	FLNA, COL1A1, COL1A2, COL2A1, FN1
7	Amoebiasis20	10.2	COL5A1, COL2A1, COL5A3, COL3A1, COL1A2, COL5A2
8	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics34	10.1	COL3A1, COL1A2, COL1A1, CD36
9	Cytoskeleton remodeling Integrin outside-in signaling10	10.1	COL2A1, COL1A2, COL1A1, FLNA, FN1
10	Collagen formation38	10.0	ADAMTS2, ADAMTS14, COL8A2, COL5A3, PLOD1, PLOD3
11	Molecular Mechanisms of Cancer36	9.9	COL5A1, COL2A1, COL8A2, COL5A3, COL3A1, COL5A2
12	Metalloproteases in connective tissue degradation10	9.7	ADAMTS4, ELN, COL2A1, COL3A1, COL1A2, COL1A1
13	UPA-UPAR Pathway36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
14	FAK1 Signaling36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
15	Integrin Pathway36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
16	GnRH Signaling36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
17	PTEN Pathway36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
18	Inhibition of Angiogenesis by TSP136	9.4	FBN1, TNC, COL1A1, COL5A2, COL1A2, COL3A1
19	Transendothelial Migration of Leukocytes36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
20	Phospholipase-C Pathway36	9.4	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
21	MAPK Signaling36	9.3	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
22	Rho Family GTPases36	9.3	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
23	ERK Signaling36	9.3	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
24	ILK Signaling36	9.3	COL5A3, COL8A2, COL2A1, COL5A1, ELN, COL3A1
25	ECM-receptor interaction20	8.9	CD36, THBS2, FN1, TNC, TNR, TNXB
26	Focal adhesion20	8.9	COL3A1, COL5A3, COL2A1, COL5A1, THBS2, COL1A2
27	Platinum Pathway, Pharmacokinetics/Pharmacodynamics34	8.5	GSTT1, GSTP1, GSTM1
28	Naphthalene metabolism41	8.5	GSTM1, GSTP1, GSTT1
29	Naphthalene metabolism10	8.2	GSTM1, GSTP1, GSTT1

Compounds related to ehlers-danlos syndrome according to GeneDecks:

(show top 50)    (show all 91)

id	Compound	Score	Top Affiliating Genes
1	Collagenase9 9	11.6	COL1A1, COL1A2, COL3A1, COL2A1
2	nppa32	10.6	COL1A2, COL3A1, COL1A1
3	silicone32	10.4	DSPP, ELN, CD36, FN1
4	desmosine32	10.4	LOX, FBN1, ELN
5	hydroxylysine32	10.4	PLOD1, COL2A1, COL1A1, ELN, LOX
6	cyanogen bromide32	10.3	CD36, ELN, SCG5, COL1A2
7	dermatan sulfate32	10.2	CD36, FN1, TNXA, CHST14, ELN, DCN
8	pyridinoline32	10.2	LOX, PLOD2, PLOD1, COL2A1, CD36, PLOD3
9	deoxypyridinoline32	10.1	PLOD1, LOX, IGFBP1, CD36, ELN
10	hydroxyproline32 18	11.1	CD36, ELN, COL2A1, COL1A1, LOX, FBN1
11	titanium32	10.0	CD36, DCN, FN1, TNC
12	h2o232	9.9	DSPP, MC1R, ELN, LOX, TNXA
13	lysine32	9.7	PLOD1, FN1, FBN1, ELN, COL2A1, LOX
14	aspartate32	9.7	DSPP, DCN, COL2A1, PLOD1, COL1A2, ELN
15	polyvinyl chloride32	9.6	FN1, GSTT1, XRCC1
16	chloramphenicol32 9 9	11.6	DCN, IGFBP1, TNC, ELN, COL2A1, COL1A2
17	tgf beta132	9.5	FBN1, CD36, ELN, ADAMTS4, DCN, TNC
18	hyaluronic acid32 18	10.4	CD36, FN1, FBN1, ELN, DCN, TNC
19	glycosaminoglycan32	9.4	B4GALT7, ADAMTS4, DCN, COL2A1, TNC, LOX
20	hema32	9.3	GSTM1, GSTT1, DSPP
21	chondroitin sulfate32 18	10.2	ELN, ADAMTS4, FN1, CHST14, CD36, TNC
22	rsai32	9.0	COL1A2, COL1A1, IGFBP1, GSTM1, GSTT1, FBN1
23	benzene32	8.9	ELN, XRCC1, GSTM1, GSTT1
24	methylchloride32	8.9	GSTP1, GSTT1, GSTM1
25	s-phenylmercapturic acid32	8.8	GSTM1, GSTT1, GSTP1
26	vinylchloride32	8.8	XRCC1, GSTM1, GSTT1
27	procollagen32	8.8	DCN, PCOLCE, THBS2, ELN, COL2A1, COL3A1
28	paraffin32	8.8	TNC, LOX, GSTP1, ELN, DSPP, DCN
29	dexamethasone32 42 34 9 9	12.8	DSPP, SCG5, CD36, BGN, FN1, DCN
30	cotinine32 18	9.8	XRCC1, GSTT1, ERCC2, GSTM1
31	mspi32	8.7	XRCC1, COL1A2, COL1A1, ERCC2, GSTT1, GSTM1
32	acetone32	8.7	CD36, GSTP1, GSTT1, DSPP, GSTM1
33	1,3-butadiene32	8.7	GSTP1, GSTT1, GSTM1
34	cumene hydroperoxide32	8.7	GSTP1, GSTM1, GSTT1
35	heparin32 9 18 9	11.7	THBS2, CD36, TNC, DCN, ELN, TNXA
36	platinum32	8.6	GSTP1, ERCC2, GSTT1, XRCC1
37	bleomycin32 9 9	10.5	GSTP1, LOX, PLOD1, COL1A1, ELN, DCN
38	sulfate32 18	9.5	DCN, CHST14, GSTM1, GSTP1, GSTT1, COL2A1
39	vitamin d32	8.5	DSPP, FN1, GSTM1, FBN1, MC1R, IGFBP1
40	hydrocarbons32	8.4	ERCC2, GSTT1, GSTP1, GSTM1
41	alanine32	8.4	TNXA, FBN1, MC1R, IGFBP1, GSTP1, FLNA
42	cysteine32	8.3	GSTP1, SCG5, FN1, GSTM1, FBN1, LOX
43	oxaliplatin32 34 9 9	11.2	GSTM1, XRCC1, GSTT1, ERCC2, GSTP1
44	gsts32	8.1	GSTP1, GSTM1, XRCC1, GSTT1
45	vegf32	8.0	CD36, GSTP1, DCN, THBS2, ELN, COL1A1
46	serine32	7.3	IGFBP1, MC1R, FBN1, CD36, FN1, TNC
47	creatinine32	7.2	DCN, TNXA, TNC, IGFBP1, GSTT1, GSTP1
48	estrogen32	7.2	COL1A1, LOX, COL1A2, IGFBP1, FBN1, GSTT1
49	arginine32	7.2	DSPP, GSTT1, DCN, FBN1, IGFBP1, COL1A1
50	ascorbic acid32 18	8.0	CFP, DSPP, ELN, COL2A1, PLOD1, PLOD3

Cellular components related to ehlers-danlos syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen type V	GO:005588	10.3	COL5A1, COL5A3, COL5A2
2	rough endoplasmic reticulum membrane	GO:030867	10.2	PLOD2, PLOD3, PLOD1
3	collagen type I	GO:005584	10.1	COL1A2, COL1A1
4	endoplasmic reticulum lumen	GO:005788	9.9	COL5A1, COL2A1, COL8A2, COL5A3, COL3A1, COL1A2
5	basement membrane	GO:005604	9.9	FBN1, COL8A2, COL2A1, THBS2
6	extracellular matrix	GO:031012	8.9	PCOLCE, DCN, COL5A1, COL8A2, COL3A1, COL1A2
7	extracellular space	GO:005615	8.4	COL1A1, COL1A2, COL3A1, COL2A1, DCN, ADAMTS4
8	proteinaceous extracellular matrix	GO:005578	8.3	ELN, DSPP, ADAMTS14, ADAMTS2, ADAMTS4, COL8A2
9	extracellular region	GO:005576	7.4	COL5A3, COL8A2, COL2A1, COL5A1, C2orf88, THBS2

Biological processes related to ehlers-danlos syndrome according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen biosynthetic process	GO:032964	10.4	COL5A1, COL3A1, COL1A1
2	fibril organization	GO:043206	10.4	B4GALT7, TNXB, COL3A1, COL5A1
3	dermatan sulfate biosynthetic process	GO:030208	10.1	DCN, CHST14, BGN
4	platelet activation	GO:030168	10.0	CD36, FN1, FLNA, COL1A1, COL1A2, COL3A1
5	skin development	GO:043588	10.0	ADAMTS2, COL5A1, COL5A3, COL3A1, COL5A2, ERCC2
6	cellular protein modification process	GO:006464	9.9	B4GALT7, LOX, PLOD2, PLOD3, PLOD1
7	skeletal system development	GO:001501	9.8	ADAMTS4, DSPP, PITX1, COL2A1, COL1A2, COL5A2
8	chondroitin sulfate metabolic process	GO:030204	9.7	DCN, B4GALT7, CHST14, BGN
9	collagen fibril organization	GO:030199	9.5	LOX, TNXB, COL1A1, COL5A2, COL1A2, COL3A1
10	axon guidance	GO:007411	9.4	COL5A1, COL2A1, COL3A1, COL1A2, COL5A2, COL1A1
11	extracellular matrix organization	GO:030198	9.1	ERCC2, ADAMTS2, ADAMTS14, ELN, PLOD2, PLOD3

Molecular functions related to ehlers-danlos syndrome according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	procollagen-lysine 5-dioxygenase activity	GO:008475	10.3	PLOD2, PLOD3, PLOD1
2	platelet-derived growth factor binding	GO:048407	10.3	COL5A1, COL2A1, COL3A1, COL1A2, COL1A1
3	collagen binding	GO:005518	10.0	DCN, DSPP, COL5A3, TNXB, FN1, PCOLCE
4	extracellular matrix binding	GO:050840	10.0	BGN, ELN, DCN
5	L-ascorbic acid binding	GO:031418	10.0	PLOD3, PLOD2, PLOD1
6	heparin binding	GO:008201	9.8	THBS2, COL5A1, COL5A3, TNXB, FN1, PCOLCE
7	extracellular matrix structural constituent	GO:005201	9.5	BGN, DSPP, ELN, COL5A1, COL8A2, COL5A3
8	glutathione transferase activity	GO:004364	8.5	GSTT1, GSTP1, GSTM1