Classic Ehlers-Danlos Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLS054 MIFTS: 49	Classic Ehlers-Danlos Syndrome Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Classic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Classic Ehlers-Danlos Syndrome:

Name: Classic Ehlers-Danlos Syndrome ²⁵ ⁵⁴

Ehlers-Danlos Syndrome, Classic Type ²⁵ ⁵⁴ ³⁰ ⁶

Classical Ehlers-Danlos Syndrome ⁵⁴ ⁶⁰

Eds, Classic Type ²⁵

Classical Eds ⁶⁰

Ceds ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

classical ehlers-danlos syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal;

GeneReviews:

²⁵

Penetrance It is unknown whether penetrance is 100% or reduced. it is presumed to be the same for males and females...

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Oral diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

Orphanet: ⁶⁰

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

ICD10 via Orphanet ³⁵ Q79.6

UMLS via Orphanet ⁷⁵ C0220679

Orphanet ⁶⁰ ORPHA287

SNOMED-CT via HPO ⁷⁰ 108367008 111266001 126485001 more

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Summaries for Classic Ehlers-Danlos Syndrome

NIH Rare Diseases : ⁵⁴ Classical Ehlers-Danlos syndrome(EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, mutations in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated symptoms.

MalaCards based summary : Classic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, classic type, is related to caspase 8 deficiency and ehlers-danlos syndrome, classic type, 2. An important gene associated with Classic Ehlers-Danlos Syndrome is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin, bone and tongue, and related phenotypes are hypertension and hypotension

GeneReviews: NBK1244

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Related Diseases for Classic Ehlers-Danlos Syndrome

Diseases in the Classic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Classic Type, 2
Ehlers-Danlos Syndrome, Classic-Like	Ehlers-Danlos Syndrome, Classic-Like, 2

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

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	caspase 8 deficiency	32.1	COL5A1 COL5A2
2	ehlers-danlos syndrome, classic type, 2	32.0	COL1A1 COL5A1 COL5A2
3	ehlers-danlos syndrome, classic type, 1	31.5	COL1A1 COL1A2 COL5A1 COL5A2
4	hypermobility syndrome	30.1	COL5A1 TNXB
5	ehlers-danlos syndrome	29.8	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
6	vascular-like classical ehlers-danlos syndrome	12.5
7	cranioectodermal dysplasia 1	11.9
8	camurati-engelmann disease	11.9
9	cutis laxa, autosomal dominant 1	11.4
10	cutis laxa, autosomal recessive, type ia	11.4
11	ehlers-danlos syndrome, classic-like	11.4
12	cutis laxa, autosomal recessive, type ic	11.4
13	ribbing disease	11.3
14	cranioectodermal dysplasia 2	11.1
15	cranioectodermal dysplasia 3	11.1
16	cranioectodermal dysplasia 4	11.1
17	von willebrand disease, type 1	10.2
18	von willebrand's disease	10.2
19	dilated cardiomyopathy	10.2
20	aortic valve insufficiency	10.2
21	hypermobile ehlers-danlos syndrome	10.2
22	ehlers-danlos/osteogenesis imperfecta syndrome	10.0	COL1A1 COL1A2
23	high bone mass osteogenesis imperfecta	10.0	COL1A1 COL1A2
24	osteogenesis imperfecta, type vii	10.0	COL1A1 COL1A2
25	osteogenesis imperfecta, type viii	10.0	COL1A1 COL1A2
26	osteogenesis imperfecta, type v	10.0	COL1A1 COL1A2
27	scleroderma, familial progressive	10.0	COL1A1 COL1A2
28	caffey disease	10.0	COL1A1 COL1A2
29	osteogenesis imperfecta, type iv	9.9	COL1A1 COL1A2
30	osteogenesis imperfecta, type i	9.9	COL1A1 COL1A2
31	otosclerosis	9.9	COL1A1 COL1A2
32	dentinogenesis imperfecta	9.9	COL1A1 COL1A2
33	spondyloepiphyseal dysplasia congenita	9.9	COL1A1 COL1A2
34	osteogenesis imperfecta, type iii	9.9	COL1A1 COL1A2
35	osteogenesis imperfecta, type ii	9.9	COL1A1 COL1A2
36	bruck syndrome	9.8	COL1A1 COL1A2
37	bone development disease	9.8	COL1A1 COL1A2
38	pelvic organ prolapse	9.8	COL1A1 TNXB
39	brittle bone disorder	9.7	COL1A1 COL1A2
40	larsen-like syndrome	9.7	COL1A1 COL1A2 COL5A2
41	marfan syndrome	9.7	COL1A2 COL5A2
42	connective tissue disease	9.3	COL1A1 COL1A2 COL5A1 TNXB
43	collagen disease	9.0	COL1A1 COL1A2 COL5A1 COL5A2 TNXB

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

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Symptoms & Phenotypes for Classic Ehlers-Danlos Syndrome

Human phenotypes related to Classic Ehlers-Danlos Syndrome:

⁶⁰ ³³ (show top 50) (show all 76)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertension ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000822
2	hypotension ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002615
3	hyperlordosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003307
4	pectus carinatum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000768
5	emphysema ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002097
6	joint hyperflexibility ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005692
7	abnormal nasal morphology ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005105
8	high, narrow palate ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002705
9	atypical scarring of skin ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000987
10	arterial dissection ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005294
11	glaucoma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000501
12	striae distensae ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001065
13	arachnodactyly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001166
14	asthma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002099
15	eczema ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000964
16	petechiae ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000967
17	spina bifida occulta ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003298
18	triangular face ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000325
19	hyperextensible skin ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000974
20	abnormality of the tongue ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000157
21	abnormality of the gingiva ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000168
22	shagreen patch ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0009721
23	malar prominence ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0010620
24	joint dislocation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001373
25	muscle weakness ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001324
26	scoliosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002650
27	umbilical hernia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001537
28	acrocyanosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001063
29	aplasia/hypoplasia of the abdominal wall musculature ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0010318
30	thin skin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000963
31	myalgia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003326
32	mitral valve prolapse ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001634
33	hypoplasia of the ear cartilage ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100720
34	narrow face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000275
35	erythema ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0010783
36	bruising susceptibility ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000978
37	venous insufficiency ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005293
38	hiatus hernia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002036
39	premature birth ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001622
40	tricuspid valve prolapse ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001704
41	osteoarthritis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002758
42	muscular hypotonia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001252
43	kyphosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002808
44	inguinal hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000023
45	dental malocclusion ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000689
46	open bite ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010807
47	wide nasal bridge ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000431
48	pes planus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001763
49	short stature ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004322
50	reduced consciousness/confusion ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004372

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.65	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
2	integument	MP:0010771	9.55	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3	mortality/aging	MP:0010768	9.35	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
4	normal	MP:0002873	8.92	COL1A1 COL1A2 COL5A1 COL5A2

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Drugs & Therapeutics for Classic Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Classic Ehlers-Danlos Syndrome

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Genetic Tests for Classic Ehlers-Danlos Syndrome

Genetic tests related to Classic Ehlers-Danlos Syndrome:

#	Genetic test	Affiliating Genes
1	Ehlers-Danlos Syndrome, Classic Type ³⁰	COL5A1

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Anatomical Context for Classic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Classic Ehlers-Danlos Syndrome:

⁴²

Skin, Bone, Tongue, Heart, Skeletal Muscle

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Publications for Classic Ehlers-Danlos Syndrome

Articles related to Classic Ehlers-Danlos Syndrome:

(show all 38)

#	Title	Authors	Year
1	Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. ( 31061749 )	Sen P...Butler MG	2019
2	Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. ( 28387435 )	Johnston JM...Soslowsky LJ	2017
3	Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )	Ott HW...Spannagl M	2016
4	Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. ( 27413024 )	Zainal A...Naqvi SY	2016
5	Spontaneous rupture of a splenic aneurysm in classic Ehlers-Danlos syndrome. ( 27234128 )	Paredes Quiles M...Parrilla P	2016
6	Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome. ( 26713685 )	DeNigris J...Birk DE	2016
7	Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS). ( 26608033 )	Paladin L...Minervini G	2015
8	Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. ( 25987251 )	Park AC...Greenspan DS	2015
9	Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. ( 25797646 )	Sun M...Birk DE	2015
10	Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. ( 25597651 )	Gaines R...Cho JS	2015
11	Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome. ( 25489549 )	M?ller MB...Nielsen RH	2014
12	Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. ( 25122555 )	Nielsen RH...Kjaer M	2014
13	Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. ( 23587214 )	Ritelli M...Colombi M	2013
14	Classic Ehlers-Danlos syndrome: case report and brief review of literature. ( 24001420 )	Morais P...Azevedo F	2013
15	Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. ( 23997563 )	Mehta S...Birnbaum Y	2012
16	Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. ( 21193204 )	Atzinger CL...Tinkle BT	2011
17	Ehlers-Danlos syndrome (classic type): report of a case presenting with an unusual dental anomaly. ( 21968044 )	Cho SY	2011
18	Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 21217464 )	Williams M	2011
19	Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. ( 20635400 )	Borck G...Kubisch C	2010
20	Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 20847697 )	Malfait F...De Paepe A	2010
21	COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. ( 18972565 )	Symoens S...De Paepe A	2009
22	The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. ( 15580559 )	Malfait F...De Paepe A	2005
23	Molecular genetics in classic Ehlers-Danlos syndrome. ( 16278879 )	Malfait F...De Paepe A	2005
24	Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. ( 15264295 )	Pallotta R...Nuytinck L	2004
25	Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. ( 12145749 )	Takahara K...Greenspan DS	2002
26	Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type. ( 11801775 )	Hermanns-L? T...Pi?rard GE	2001
27	Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. ( 10739762 )	Nuytinck L...De Paepe A	2000
28	Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). ( 10796876 )	Schwarze U...Byers PH	2000
29	The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum. ( 10946364 )	Steinmann B...Giunta C	2000
30	COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. ( 10777716 )	Wenstrup RJ...Cole WG	2000
31	Compound heterozygosity for a disease-causing G1489E [corrected] 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
32	A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. ( 9783710 )	Richards AJ...Burrows NP	1998
33	A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. ( 9683580 )	Burrows NP...Pope FM	1998
34	Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. ( 9425231 )	Michalickova K...Cole WG	1998
35	Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. ( 9042913 )	De Paepe A...Naeyaert JM	1997
36	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 RJ...Cole WG	1996
37	An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. ( 8950675 )	Nicholls AC...Pope FM	1996
38	Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. ( 8575750 )	Takahara K...Greenspan DS	1995

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Genes for Classic Ehlers-Danlos Syndrome

Genes related to Classic Ehlers-Danlos Syndrome (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	878.29	Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications (show sections)	8923000 20301422 9042913 (more) 9683580 10602121 10946364 10796876 10777716 12145749 15264295 8575750 8950675 20635400
2	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	778.17	Pathogenic ⁶ Causative germline mutation ⁶⁰ GeneCards inferred via : Disorders Publications (show sections)	9425231 20301422 9783710 (more) 15580559
3	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	777.69	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ GeneCards inferred via : Disorders Publications (show sections)	10739762 20301422
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	417.45	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)	20301422 20301472
5	TNXB	Tenascin XB	Protein Coding	27.52	GeneCards inferred via : Disorders Publications (show sections)

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Variations for Classic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Classic Ehlers-Danlos Syndrome:

⁶ (show top 50) (show all 1661)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	COL5A1	NM_000093.4(COL5A1): c.3906+3G> T	single nucleotide variant	Pathogenic	rs786200922	GRCh37	Chromosome 9, 137705885: 137705885
2	COL5A1	NM_000093.4(COL5A1): c.3906+3G> T	single nucleotide variant	Pathogenic	rs786200922	GRCh38	Chromosome 9, 134814039: 134814039
3	COL5A1	NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT	deletion	Pathogenic	rs786200923	GRCh37	Chromosome 9, 137727053: 137727056
4	COL5A1	NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT	deletion	Pathogenic	rs786200923	GRCh38	Chromosome 9, 134835207: 134835210
5	COL5A1	NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser)	single nucleotide variant	Pathogenic	rs80338764	GRCh37	Chromosome 9, 137716663: 137716663
6	COL5A1	NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser)	single nucleotide variant	Pathogenic	rs80338764	GRCh38	Chromosome 9, 134824817: 134824817
7	COL5A1	NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del)	deletion	Pathogenic
8	COL5A1	NM_000093.4(COL5A1): c.5137-11T> A	single nucleotide variant	Pathogenic	rs183495554	GRCh38	Chromosome 9, 134834960: 134834960
9	COL5A1	NM_000093.4(COL5A1): c.5137-11T> A	single nucleotide variant	Pathogenic	rs183495554	GRCh37	Chromosome 9, 137726806: 137726806
10	COL5A1	NM_000093.4(COL5A1): c.2701-25T> G	single nucleotide variant	Pathogenic	rs765079080	GRCh38	Chromosome 9, 134795057: 134795057
11	COL5A1	NM_000093.4(COL5A1): c.2701-25T> G	single nucleotide variant	Pathogenic	rs765079080	GRCh37	Chromosome 9, 137686903: 137686903
12	COL5A1	NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu)	single nucleotide variant	Pathogenic	rs121912932	GRCh37	Chromosome 9, 137711981: 137711981
13	COL5A1	NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu)	single nucleotide variant	Pathogenic	rs121912932	GRCh38	Chromosome 9, 134820135: 134820135
14	COL5A1	NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs)	deletion	Pathogenic	rs786205100	GRCh37	Chromosome 9, 137704458: 137704458
15	COL5A1	NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs)	deletion	Pathogenic	rs786205100	GRCh38	Chromosome 9, 134812612: 134812612
16	COL5A1	NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter)	single nucleotide variant	Pathogenic	rs121912933	GRCh37	Chromosome 9, 137666747: 137666747
17	COL5A1	NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter)	single nucleotide variant	Pathogenic	rs121912933	GRCh38	Chromosome 9, 134774901: 134774901
18	COL5A1	NM_000093.4(COL5A1): c.655-2A> G	single nucleotide variant	Pathogenic	rs786205101	GRCh37	Chromosome 9, 137619110: 137619110
19	COL5A1	NM_000093.4(COL5A1): c.655-2A> G	single nucleotide variant	Pathogenic	rs786205101	GRCh38	Chromosome 9, 134727264: 134727264
20	COL5A1	NM_000093.4(COL5A1): c.4339-1delG	deletion	Pathogenic	rs786205102	GRCh37	Chromosome 9, 137710693: 137710693
21	COL5A1	NM_000093.4(COL5A1): c.4339-1delG	deletion	Pathogenic	rs786205102	GRCh38	Chromosome 9, 134818847: 134818847
22	COL5A2	NM_000393.4(COL5A2): c.1924-2_1928del	deletion	Pathogenic	rs786205103	GRCh37	Chromosome 2, 189927640: 189927646
23	COL5A2	NM_000393.4(COL5A2): c.1924-2_1928del	deletion	Pathogenic	rs786205103	GRCh38	Chromosome 2, 189062914: 189062920
24	COL5A2	NM_000393.4(COL5A2): c.2031+1G> T	single nucleotide variant	Pathogenic	rs786205104	GRCh37	Chromosome 2, 189926287: 189926287
25	COL5A2	NM_000393.4(COL5A2): c.2031+1G> T	single nucleotide variant	Pathogenic	rs786205104	GRCh38	Chromosome 2, 189061561: 189061561
26	COL5A2	NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg)	single nucleotide variant	Pathogenic	rs121912930	GRCh37	Chromosome 2, 189907903: 189907903
27	COL5A2	NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg)	single nucleotide variant	Pathogenic	rs121912930	GRCh38	Chromosome 2, 189043177: 189043177
28	COL1A2	NM_000089.3(COL1A2): c.279+2T> C	single nucleotide variant	Pathogenic	rs72656357	GRCh37	Chromosome 7, 94030934: 94030934
29	COL1A2	NM_000089.3(COL1A2): c.279+2T> C	single nucleotide variant	Pathogenic	rs72656357	GRCh38	Chromosome 7, 94401622: 94401622
30	COL1A2	NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72658163	GRCh37	Chromosome 7, 94049588: 94049588
31	COL1A2	NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72658163	GRCh38	Chromosome 7, 94420276: 94420276
32	COL1A1	NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs72645347	GRCh37	Chromosome 17, 48273698: 48273698
33	COL1A1	NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs72645347	GRCh38	Chromosome 17, 50196337: 50196337
34	COL5A1	NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter)	single nucleotide variant	Pathogenic	rs387906606	GRCh37	Chromosome 9, 137696890: 137696890
35	COL5A1	NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter)	single nucleotide variant	Pathogenic	rs387906606	GRCh38	Chromosome 9, 134805044: 134805044
36	COL1A2	NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln)	single nucleotide variant	Uncertain significance	rs139446305	GRCh37	Chromosome 7, 94040411: 94040411
37	COL1A2	NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln)	single nucleotide variant	Uncertain significance	rs139446305	GRCh38	Chromosome 7, 94411099: 94411099
38	COL1A2	NM_000089.3(COL1A2): c.1383C> T (p.Pro461=)	single nucleotide variant	Benign/Likely benign	rs139726213	GRCh37	Chromosome 7, 94041412: 94041412
39	COL1A2	NM_000089.3(COL1A2): c.1383C> T (p.Pro461=)	single nucleotide variant	Benign/Likely benign	rs139726213	GRCh38	Chromosome 7, 94412100: 94412100
40	COL1A2	NM_000089.3(COL1A2): c.2082C> A (p.Gly694=)	single nucleotide variant	Likely benign	rs193229878	GRCh37	Chromosome 7, 94049547: 94049547
41	COL1A2	NM_000089.3(COL1A2): c.2082C> A (p.Gly694=)	single nucleotide variant	Likely benign	rs193229878	GRCh38	Chromosome 7, 94420235: 94420235
42	COL1A2	NM_000089.3(COL1A2): c.2700C> T (p.Ala900=)	single nucleotide variant	Benign/Likely benign	rs141688356	GRCh37	Chromosome 7, 94054455: 94054455
43	COL1A2	NM_000089.3(COL1A2): c.2700C> T (p.Ala900=)	single nucleotide variant	Benign/Likely benign	rs141688356	GRCh38	Chromosome 7, 94425143: 94425143
44	COL1A2	NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=)	single nucleotide variant	Benign/Likely benign	rs62001059	GRCh37	Chromosome 7, 94055755: 94055755
45	COL1A2	NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=)	single nucleotide variant	Benign/Likely benign	rs62001059	GRCh38	Chromosome 7, 94426443: 94426443
46	COL1A2	NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=)	single nucleotide variant	Benign/Likely benign	rs34691365	GRCh37	Chromosome 7, 94057007: 94057007
47	COL1A2	NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=)	single nucleotide variant	Benign/Likely benign	rs34691365	GRCh38	Chromosome 7, 94427695: 94427695
48	COL1A2	NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)	single nucleotide variant	Pathogenic	rs72656387	GRCh37	Chromosome 7, 94038679: 94038679
49	COL1A2	NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)	single nucleotide variant	Pathogenic	rs72656387	GRCh38	Chromosome 7, 94409367: 94409367
50	COL1A2	NM_000089.3(COL1A2): c.948C> T (p.Gly316=)	single nucleotide variant	Benign/Likely benign	rs34511999	GRCh37	Chromosome 7, 94039046: 94039046

Sources

Expression for Classic Ehlers-Danlos Syndrome

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

Sources

Pathways for Classic Ehlers-Danlos Syndrome

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁵ Show member pathways FAK1 Signaling ⁶⁵ GnRH Signaling ⁶⁵ Inhibition of Angiogenesis by TSP1 ⁶⁵ Transendothelial Migration of Leukocytes ⁶⁵ UPA-UPAR Pathway ⁶⁵	12.98	COL1A1 COL1A2 COL5A1 COL5A2
2	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.63	COL1A1 COL1A2 COL5A1 COL5A2
3	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.6	COL1A1 COL1A2 TNXB
4	Focal Adhesion ¹ ³⁸ Show member pathways HGF Pathway ⁶⁵ Integrin-mediated Cell Adhesion ¹	12.32	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
5	Collagen chain trimerization ⁶⁷ Show member pathways Anchoring fibril formation ⁶⁷ Assembly of collagen fibrils and other multimeric structures ⁶⁷ Blood Coagulation Cascade ⁶⁵ Collagen biosynthesis and modifying enzymes ⁶⁷ Collagen formation ⁶⁷ Crosslinking of collagen fibrils ⁶⁷ Intrinsic Prothrombin Activation Pathway ⁶⁵ Protein digestion and absorption ³⁸	12.28	COL1A1 COL1A2 COL5A1 COL5A2
6	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.01	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
7	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	11.77	COL1A1 COL1A2 TNXB
8	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	11.77	COL1A1 COL1A2 COL5A1 COL5A2
9	Platelet activation ³⁸	11.69	COL1A1 COL1A2
10	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁷ Show member pathways Scavenging by Class A Receptors ⁶⁷ Scavenging by Class B Receptors ⁶⁷ Scavenging by Class F Receptors ⁶⁷ Scavenging by Class H Receptors ⁶⁷ Scavenging of heme from plasma ⁶⁷	11.6	COL1A1 COL1A2
11	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.58	COL1A1 COL1A2
12	Amoebiasis ³⁸	11.55	COL1A1 COL1A2
13	IL4-mediated signaling events ¹	11.36	COL1A1 COL1A2
14	Cell adhesion_ECM remodeling ²³	11.33	COL1A1 COL1A2
15	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶²	11.23	COL1A1 COL1A2
16	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²³	11.11	COL1A1 COL1A2
17	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.09	COL1A1 COL1A2
18	Inflammatory Response Pathway ¹	11	COL1A1 COL1A2
19	VEGFR3 signaling in lymphatic endothelium ¹	10.82	COL1A1 COL1A2
20	miRNA targets in ECM and membrane receptors ¹	10.56	COL1A2 COL5A1 COL5A2 TNXB
21	G-protein signaling_Rap2B regulation pathway ²³	10.53	COL1A1 COL1A2 COL5A1 COL5A2

Sources

GO Terms for Classic Ehlers-Danlos Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.83	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
2	extracellular space	GO:0005615	9.8	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3	endoplasmic reticulum lumen	GO:0005788	9.62	COL1A1 COL1A2 COL5A1 COL5A2
4	collagen trimer	GO:0005581	9.46	COL1A1 COL1A2 COL5A1 COL5A2
5	collagen type V trimer	GO:0005588	9.37	COL5A1 COL5A2
6	extracellular matrix	GO:0031012	9.35	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
7	collagen type I trimer	GO:0005584	9.26	COL1A1 COL1A2
8	collagen-containing extracellular matrix	GO:0062023	9.02	COL1A1 COL1A2 COL5A1 COL5A2 TNXB

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.65	COL1A1 COL1A2 COL5A2
2	cellular response to amino acid stimulus	GO:0071230	9.54	COL1A1 COL1A2 COL5A2
3	platelet activation	GO:0030168	9.52	COL1A1 COL1A2
4	ossification	GO:0001503	9.51	COL1A1 COL5A2
5	blood vessel development	GO:0001568	9.5	COL1A1 COL1A2 COL5A1
6	protein heterotrimerization	GO:0070208	9.49	COL1A1 COL1A2
7	collagen biosynthetic process	GO:0032964	9.46	COL1A1 COL5A1
8	skin morphogenesis	GO:0043589	9.43	COL1A1 COL1A2
9	eye morphogenesis	GO:0048592	9.4	COL5A1 COL5A2
10	extracellular matrix organization	GO:0030198	9.35	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
11	skin development	GO:0043588	9.33	COL1A1 COL5A1 COL5A2
12	negative regulation of endodermal cell differentiation	GO:1903225	9.26	COL5A1 COL5A2
13	collagen fibril organization	GO:0030199	9.02	COL1A1 COL1A2 COL5A1 COL5A2 TNXB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	heparin binding	GO:0008201	9.4	COL5A1 TNXB
2	integrin binding	GO:0005178	9.37	COL5A1 TNXB
3	platelet-derived growth factor binding	GO:0048407	9.33	COL1A1 COL1A2 COL5A1
4	protease binding	GO:0002020	9.32	COL1A1 COL1A2
5	SMAD binding	GO:0046332	9.26	COL1A2 COL5A2
6	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.26	COL1A1 COL1A2 COL5A1 COL5A2
7	extracellular matrix structural constituent	GO:0005201	9.02	COL1A1 COL1A2 COL5A1 COL5A2 TNXB

Sources

Sources for Classic Ehlers-Danlos Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia