MCID: EHL018
MIFTS: 42

Ehlers-Danlos Syndrome Type Ii

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

Aliases & Classifications for Ehlers-Danlos Syndrome Type Ii

Summaries for Ehlers-Danlos Syndrome Type Ii

MalaCards based summary : Ehlers-Danlos Syndrome Type Ii, also known as ehlers-danlos syndrome type 2, is related to ehlers-danlos syndrome, classic type and ehlers-danlos syndrome, and has symptoms including recurrent urinary tract infections, bladder diverticulum and inguinal hernia. An important gene associated with Ehlers-Danlos Syndrome Type Ii is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and pancreas, and related phenotypes are integument and normal

Related Diseases for Ehlers-Danlos Syndrome Type Ii

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



Diseases related to Ehlers-Danlos Syndrome Type Ii

Symptoms & Phenotypes for Ehlers-Danlos Syndrome Type Ii

Human phenotypes related to Ehlers-Danlos Syndrome Type Ii:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0000010
2 bladder diverticulum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000015
3 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
4 abnormality of the oral cavity 56 32 occasional (7.5%) Occasional (29-5%) HP:0000163
5 retinal detachment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000541
6 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
7 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
8 congenital diaphragmatic hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000776
9 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
10 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
11 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000974
12 soft skin 56 32 frequent (33%) Frequent (79-30%) HP:0000977
13 bruising susceptibility 56 32 frequent (33%) Frequent (79-30%) HP:0000978
14 cigarette-paper scars 56 32 hallmark (90%) Very frequent (99-80%) HP:0001073
15 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
16 aortic dilatation 56 32 frequent (33%) Frequent (79-30%) HP:0001724
17 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
18 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
19 peritonitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002586
20 varicose veins 56 32 frequent (33%) Frequent (79-30%) HP:0002619
21 aortic dissection 56 32 occasional (7.5%) Occasional (29-5%) HP:0002647
22 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
23 femoral hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100541
24 dermal atrophy 56 Very frequent (99-80%)
25 hernia 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.33 COL1A1 COL5A1 COL5A2
2 normal MP:0002873 9.13 COL1A1 COL5A1 COL5A2
3 vision/eye MP:0005391 8.8 COL1A1 COL5A1 COL5A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome Type Ii

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
2
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
3 Angiotensin II Type 1 Receptor Blockers Phase 3
4 Angiotensin Receptor Antagonists Phase 3
5 Angiotensinogen Phase 3
6 Antihypertensive Agents Phase 3
7 HIV Protease Inhibitors Phase 3
8
protease inhibitors Phase 3
9 Serine Proteinase Inhibitors Phase 3
10 Vasoconstrictor Agents Phase 3
11 serine Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE) Recruiting NCT02597361 Phase 3 Irbesartan;Placebo

Search NIH Clinical Center for Ehlers-Danlos Syndrome Type Ii

Genetic Tests for Ehlers-Danlos Syndrome Type Ii

Genetic tests related to Ehlers-Danlos Syndrome Type Ii:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Type Ii 24 COL5A1

Anatomical Context for Ehlers-Danlos Syndrome Type Ii

MalaCards organs/tissues related to Ehlers-Danlos Syndrome Type Ii:

39
Skin, Bone, Pancreas

Publications for Ehlers-Danlos Syndrome Type Ii

Articles related to Ehlers-Danlos Syndrome Type Ii:

(show all 16)
id Title Authors Year
1
[Maternal Ehlers-Danlos syndrome type II occuring with foetal duodenal atresia and annular pancreas: first description]. ( 21541907 )
2011
2
EHLERS-DANLOS SYNDROME-TYPE II. ( 28775640 )
1999
3
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 )
1998
4
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. ( 9783710 )
1998
5
Ehlers-Danlos syndrome type II in pregnancy. ( 9259907 )
1997
6
Anesthesia for cesarean delivery in a patient with Ehlers-Danlos syndrome type II. ( 9168222 )
1997
7
Cutis laxa complicating Ehlers-Danlos syndrome type II. ( 8759202 )
1996
8
Ehlers-Danlos syndrome type II: importance of recognition. ( 7487742 )
1995
9
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. ( 7759113 )
1995
10
Molecular analysis of Ehlers-Danlos syndrome type II. ( 2049574 )
1991
11
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. ( 2343586 )
1990
12
Image interpretation session. Ehlers-Danlos syndrome, type II. ( 2296687 )
1990
13
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. ( 3049731 )
1988
14
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen. ( 3422850 )
1987
15
Ehlers-Danlos syndrome, type II (mitis). ( 7168916 )
1982
16
Clinical features and an ultrastructural study of Ehlers-Danlos Syndrome type II. ( 6759549 )
1982

Variations for Ehlers-Danlos Syndrome Type Ii

ClinVar genetic disease variations for Ehlers-Danlos Syndrome Type Ii:

6 (show all 31)
id 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.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh37 Chromosome 9, 137727053: 137727056
3 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
4 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
5 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
6 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic/Likely pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
7 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
8 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
9 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
10 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
11 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
12 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
13 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
14 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
15 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
16 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
17 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh37 Chromosome 9, 137644434: 137644434
18 COL5A1 NM_000093.4(COL5A1): c.4184delC (p.Pro1395Glnfs) deletion Pathogenic rs794727760 GRCh37 Chromosome 9, 137709631: 137709631
19 COL5A1 NM_001278074.1(COL5A1): c.2034+1G> A single nucleotide variant Pathogenic rs886042173 GRCh37 Chromosome 9, 137655584: 137655584
20 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
21 COL5A1 NM_001278074.1(COL5A1): c.1207G> T (p.Glu403Ter) single nucleotide variant Pathogenic rs886043641 GRCh37 Chromosome 9, 137623384: 137623384
22 COL5A1 NM_000093.4(COL5A1): c.3762delT (p.Gly1255Alafs) deletion Pathogenic rs1057518653 GRCh38 Chromosome 9, 134812622: 134812622
23 COL5A1 NM_000093.4(COL5A1): c.2203dupC (p.Gln735Profs) duplication Pathogenic rs1057519596 GRCh37 Chromosome 9, 137659171: 137659171
24 COL5A1 NM_000093.4(COL5A1): c.4203delA (p.Gly1402Alafs) deletion Pathogenic rs1060502255 GRCh38 Chromosome 9, 134817804: 134817804
25 COL5A1 NM_000093.4(COL5A1): c.4232delG (p.Gly1411Glufs) deletion Pathogenic rs1060502259 GRCh38 Chromosome 9, 134818657: 134818657
26 COL5A1 NC_000009.12: g.(?_134701171)_(134835204_?)del deletion Pathogenic GRCh38 Chromosome 9, 134701171: 134835204
27 COL5A1 NM_000093.4(COL5A1): c.228_229delAG (p.Arg76Serfs) deletion Pathogenic rs1060502242 GRCh38 Chromosome 9, 134691030: 134691031
28 COL5A1 NM_000093.4(COL5A1): c.1075G> T (p.Glu359Ter) single nucleotide variant Pathogenic rs769752636 GRCh38 Chromosome 9, 134730386: 134730386
29 COL5A1 NM_000093.4(COL5A1): c.2143G> T (p.Gly715Ter) single nucleotide variant Pathogenic rs1060502258 GRCh38 Chromosome 9, 134767009: 134767009
30 COL5A1 NM_000093.4(COL5A1): c.2988delC (p.Gly997Alafs) deletion Pathogenic rs1060502256 GRCh38 Chromosome 9, 134801989: 134801989
31 COL5A1 NM_000093.4(COL5A1): c.2430+1G> A single nucleotide variant Pathogenic rs1060502248 GRCh38 Chromosome 9, 134780147: 134780147

Expression for Ehlers-Danlos Syndrome Type Ii

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

Pathways for Ehlers-Danlos Syndrome Type Ii

GO Terms for Ehlers-Danlos Syndrome Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 COL1A1 COL5A1 COL5A2
2 proteinaceous extracellular matrix GO:0005578 9.5 COL1A1 COL5A1 COL5A2
3 extracellular matrix GO:0031012 9.43 COL1A1 COL5A1 COL5A2
4 endoplasmic reticulum lumen GO:0005788 9.33 COL1A1 COL5A1 COL5A2
5 collagen trimer GO:0005581 9.13 COL1A1 COL5A1 COL5A2
6 collagen type V trimer GO:0005588 8.62 COL5A1 COL5A2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 COL1A1 COL5A1 COL5A2
2 skeletal system development GO:0001501 9.49 COL1A1 COL5A2
3 ossification GO:0001503 9.48 COL1A1 COL5A2
4 blood vessel development GO:0001568 9.46 COL1A1 COL5A1
5 cellular response to amino acid stimulus GO:0071230 9.43 COL1A1 COL5A2
6 collagen biosynthetic process GO:0032964 9.37 COL1A1 COL5A1
7 collagen catabolic process GO:0030574 9.33 COL1A1 COL5A1 COL5A2
8 eye morphogenesis GO:0048592 9.32 COL5A1 COL5A2
9 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A1 COL5A2
10 skin development GO:0043588 9.13 COL1A1 COL5A1 COL5A2
11 collagen fibril organization GO:0030199 8.8 COL1A1 COL5A1 COL5A2

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

id Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL5A1
2 extracellular matrix structural constituent GO:0005201 8.8 COL1A1 COL5A1 COL5A2

Sources for Ehlers-Danlos Syndrome Type Ii

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18 FMA
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