EDSCL2
MCID: EHL074
MIFTS: 44

Ehlers-Danlos Syndrome, Classic Type, 2 (EDSCL2)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic Type, 2:

Name: Ehlers-Danlos Syndrome, Classic Type, 2 57 72
Ehlers-Danlos Syndrome Classic Type 2 12 29 6
Ehlers-Danlos Syndrome, Type Ii 72 13 54
Edscl2 57 72
Ehlers-Danlos Syndrome, Type Ii, Formerly; Eds2, Formerly 57
Ehlers Danlos Syndrome, Mild Classic Type, Formerly 57
Ehlers Danlos Syndrome, Mitis Type, Formerly 57
Ehlers-Danlos Syndrome, Type Ii, Formerly 57
Ehlers-Danlos Syndrome Mild Classic Type 72
Syndrome, Ehlers-Danlos, Classic, Type 2 39
Ehlers-Danlos Syndrome Mitis Type 72
Ehlers-Danlos Syndrome Type 2 70
Ehlers-Danlos Syndrome 2 72
Eds Ii, Formerly 57
Eds2, Formerly 57
Eds Ii 72
Eds2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ehlers-danlos syndrome, classic type, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080726
OMIM® 57 130010
OMIM Phenotypic Series 57 PS130000
MeSH 44 D004535
UMLS 70 C0268336

Summaries for Ehlers-Danlos Syndrome, Classic Type, 2

OMIM® : 57 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively. For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see 130000. (130010) (Updated 20-May-2021)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, 2, also known as ehlers-danlos syndrome classic type 2, is related to nail-patella syndrome and classic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 2 is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include pancreas, bone and skin, and related phenotypes are congenital hip dislocation and talipes equinovarus

Disease Ontology : 12 An Ehlers-Danlos syndrome that has material basis in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, classic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant.

Related Diseases for Ehlers-Danlos Syndrome, Classic Type, 2

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 Ehlers-Danlos Syndrome, Classic Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 nail-patella syndrome 30.1 COL5A2 COL5A1
2 classic ehlers-danlos syndrome 29.7 LOC101448202 COL5A2 COL5A1
3 hypermobile ehlers-danlos syndrome 29.3 LOC101448202 COL5A2 COL5A1
4 connective tissue disease 29.1 COL5A2 COL5A1 COL3A1 CD36
5 ehlers-danlos syndrome, classic type, 1 28.7 LOC101448202 COL5A2 COL5A1 COL3A1
6 ehlers-danlos syndrome 28.3 LOC101448202 COL5A2 COL5A1 COL3A1 CD36
7 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 11.7
8 cleft palate, isolated 10.1
9 pancreas, annular 10.1
10 pectus excavatum 10.1
11 telangiectasia, hereditary hemorrhagic, type 1 10.1
12 tuberous sclerosis 1 10.1
13 duodenal atresia 10.1
14 ehlers-danlos syndrome, cardiac valvular type 10.1
15 oligohydramnios 10.1
16 hereditary hemorrhagic telangiectasia 10.1
17 telangiectasis 10.1
18 tuberous sclerosis 10.1
19 cutis laxa 10.1
20 caspase 8 deficiency 10.0 COL5A2 COL5A1
21 preterm premature rupture of the membranes 9.9 COL5A2 COL5A1
22 osteogenesis imperfecta, type iii 9.9 COL5A2 CD36
23 stickler syndrome 9.8 COL5A2 COL5A1
24 larsen-like syndrome 9.8 COL5A2 COL3A1
25 ehlers-danlos syndrome, vascular type 9.8 COL5A1 COL3A1
26 inguinal hernia 9.7 COL5A1 CD36
27 pelvic organ prolapse 9.7 COL3A1 CD36
28 osteogenesis imperfecta, type ii 9.7 COL5A2 COL5A1 CD36
29 aortic aneurysm, familial thoracic 1 9.7 COL5A1 COL3A1
30 hypermobility syndrome 9.6 COL5A2 COL5A1 COL3A1
31 collagen disease 9.6 COL5A2 COL5A1 COL3A1
32 familial thoracic aortic aneurysm and aortic dissection 9.6 COL5A2 COL5A1 COL3A1
33 aortic dissection 9.6 COL5A2 COL5A1 COL3A1
34 orthostatic intolerance 9.6 COL5A2 COL5A1 COL3A1
35 osteochondrodysplasia 9.5 COL5A2 COL5A1 COL3A1
36 aortic valve disease 1 9.5 COL5A2 COL5A1 COL3A1
37 brittle bone disorder 9.3 COL5A2 COL5A1 COL3A1 CD36
38 loeys-dietz syndrome 9.2 LOC101448202 COL5A2 COL5A1 COL3A1
39 aortic aneurysm, familial thoracic 4 9.2 COL5A2 COL5A1 COL3A1
40 marfan syndrome 9.0 LOC101448202 COL5A2 COL5A1 COL3A1 CD36

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Classic Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Classic Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 2:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 congenital hip dislocation 31 very rare (1%) HP:0001374
2 talipes equinovarus 31 very rare (1%) HP:0001762
3 joint hypermobility 31 very rare (1%) HP:0001382
4 hemoptysis 31 very rare (1%) HP:0002105
5 soft skin 31 very rare (1%) HP:0000977
6 recurrent sinusitis 31 very rare (1%) HP:0011108
7 recurrent joint dislocation 31 very rare (1%) HP:0031869
8 molluscoid pseudotumors 31 very rare (1%) HP:0000993
9 subcutaneous spheroids 31 very rare (1%) HP:0025014
10 hernia 31 HP:0100790
11 epicanthus 31 HP:0000286
12 bruising susceptibility 31 HP:0000978
13 hyperextensible skin 31 HP:0000974
14 cigarette-paper scars 31 HP:0001073
15 fragile skin 31 HP:0001030
16 generalized joint laxity 31 HP:0002761
17 soft, doughy skin 31 HP:0001027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
joint hypermobility
joint laxity, generalized

Skeletal Pelvis:
congenital hip dislocation (in some patients)

Skeletal Feet:
club feet (in some patients)

Skin Nails Hair Skin:
hyperextensible skin
fragile skin
easy bruisability
soft, velvety skin
'cigarette paper scarring'

Skeletal Limbs:
joint dislocation, recurrent (e.g., shoulder, patella)

Clinical features from OMIM®:

130010 (Updated 20-May-2021)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Classic Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Classic Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Classic Type 2 29 COL5A2

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Classic Type, 2:

40
Pancreas, Bone, Skin

Publications for Ehlers-Danlos Syndrome, Classic Type, 2

Articles related to Ehlers-Danlos Syndrome, Classic Type, 2:

(show all 36)
# Title Authors PMID Year
1
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 61 57
9783710 1998
2
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 54 57
9042913 1997
3
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 57
22696272 2012
4
Myostatin depletion: a therapy for Ehlers-Danlos syndrome? 57
20186851 2010
5
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 57
15580559 2005
6
Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome. 57
11377605 2001
7
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 57
9425231 1998
8
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). 57
8923000 1996
9
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. 54 61
9683580 1998
10
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. 61 54
7759113 1995
11
Epidemiology and genetics of intracranial aneurysms. 61
23399038 2013
12
[Maternal Ehlers-Danlos syndrome type II occuring with foetal duodenal atresia and annular pancreas: first description]. 61
21541907 2011
13
[Ehlers-Danlos syndrome type II discovered during caesarean: what to do?]. 61
21035999 2010
14
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. 61
20847697 2010
15
[Subarachnoid anesthesia for cesarean section in a patient with Ehlers-Danlos syndrome type II]. 61
15214762 2004
16
Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. 61
14683542 2004
17
Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. 61
11445623 2001
18
Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. 61
10471441 1999
19
EHLERS-DANLOS SYNDROME-TYPE II. 61
28775640 1999
20
Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections. 61
9708556 1998
21
Anesthesia for cesarean delivery in a patient with Ehlers-Danlos syndrome type II. 61
9168222 1997
22
Ehlers-Danlos syndrome type II in pregnancy. 61
9259907 1997
23
Cutis laxa complicating Ehlers-Danlos syndrome type II. 61
8759202 1996
24
Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). 54
8541855 1995
25
Ehlers-Danlos syndrome type II: importance of recognition. 61
7487742 1995
26
Molecular analysis of Ehlers-Danlos syndrome type II. 61
2049574 1991
27
Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome. 54
2049575 1991
28
Fibronectin receptor on polymorphonuclear leukocytes in families of Ehlers-Danlos syndrome and other hereditary connective tissue diseases. 61
2144868 1990
29
Image interpretation session. Ehlers-Danlos syndrome, type II. 61
2296687 1990
30
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. 61
2343586 1990
31
Ehlers- Danlos Syndrome. 61
28128147 1989
32
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. 61
3049731 1988
33
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen. 61
3422850 1987
34
[Can familial Eyelid ptosis be an expression of Ehlers-Danlos syndrome?]. 61
3983603 1985
35
Clinical features and an ultrastructural study of Ehlers-Danlos Syndrome type II. 61
6759549 1982
36
Ehlers-Danlos syndrome, type II (mitis). 61
7168916 1982

Variations for Ehlers-Danlos Syndrome, Classic Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 2:

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL5A1 NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) SNV Pathogenic 930611 GRCh37: 9:137686958-137686958
GRCh38: 9:134795112-134795112
2 COL5A2 NM_000393.5(COL5A2):c.1159-60_2031+62dup Duplication Pathogenic 976315 GRCh37: 2:189926225-189926226
GRCh38: 2:189061499-189061500
3 COL5A2 NM_000393.5(COL5A2):c.568-316_3525+41del Deletion Likely pathogenic 977757 GRCh37: 2:189907405-189953814
GRCh38: 2:189042679-189089088
4 COL5A1 , LOC101448202 NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs) Insertion Likely pathogenic 930317 GRCh37: 9:137716551-137716552
GRCh38: 9:134824705-134824706
5 COL5A2 NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg) SNV Likely pathogenic 870138 GRCh37: 2:189907481-189907481
GRCh38: 2:189042755-189042755
6 COL5A2 NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) SNV Likely pathogenic 1028727 GRCh37: 2:189916144-189916144
GRCh38: 2:189051418-189051418
7 COL5A2 NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) SNV Uncertain significance 653176 rs1443765130 GRCh37: 2:189975115-189975115
GRCh38: 2:189110389-189110389
8 COL5A2 NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) SNV Uncertain significance 811946 rs761988412 GRCh37: 2:189916146-189916146
GRCh38: 2:189051420-189051420
9 COL5A2 NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) SNV Uncertain significance 529262 rs778385867 GRCh37: 2:189932790-189932790
GRCh38: 2:189068064-189068064
10 COL5A1 NM_001278074.1(COL5A1):c.754C>T (p.Pro252Ser) SNV Uncertain significance 213017 rs369781295 GRCh37: 9:137619211-137619211
GRCh38: 9:134727365-134727365
11 COL5A2 NM_000393.5(COL5A2):c.1A>G (p.Met1Val) SNV Uncertain significance 391833 rs563606558 GRCh37: 2:190044330-190044330
GRCh38: 2:189179604-189179604
12 COL5A2 NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) SNV Uncertain significance 222528 rs767252151 GRCh37: 2:189957140-189957140
GRCh38: 2:189092414-189092414
13 COL5A2 NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) SNV Uncertain significance 408291 rs746454126 GRCh37: 2:189975035-189975035
GRCh38: 2:189110309-189110309
14 COL5A2 NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp) SNV Uncertain significance 930777 GRCh37: 2:189917703-189917703
GRCh38: 2:189052977-189052977
15 COL5A1 NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala) SNV Uncertain significance 930585 GRCh37: 9:137620597-137620597
GRCh38: 9:134728751-134728751
16 COL5A2 NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) SNV Uncertain significance 643019 rs1056466895 GRCh37: 2:189904285-189904285
GRCh38: 2:189039559-189039559
17 COL5A1 NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly) SNV Uncertain significance 930866 GRCh37: 9:137646125-137646125
GRCh38: 9:134754279-134754279
18 COL5A1 NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser) SNV Uncertain significance 931023 GRCh37: 9:137620537-137620537
GRCh38: 9:134728691-134728691
19 COL5A1 NM_000093.5(COL5A1):c.1495-7T>A SNV Uncertain significance 931041 GRCh37: 9:137642381-137642381
GRCh38: 9:134750535-134750535
20 COL5A1 NM_000093.5(COL5A1):c.2646+16del Deletion Uncertain significance 931079 GRCh37: 9:137677910-137677910
GRCh38: 9:134786064-134786064
21 COL5A1 NM_001278074.1(COL5A1):c.628C>T (p.Arg210Trp) SNV Uncertain significance 519647 rs1490728700 GRCh37: 9:137593153-137593153
GRCh38: 9:134701307-134701307
22 COL5A1 NM_000093.5(COL5A1):c.57G>A (p.Leu19=) SNV Uncertain significance 696848 rs761259908 GRCh37: 9:137534090-137534090
GRCh38: 9:134642244-134642244
23 COL5A2 NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly) SNV Uncertain significance 993408 GRCh37: 2:189899782-189899782
GRCh38: 2:189035056-189035056
24 COL5A2 NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) SNV Uncertain significance 993416 GRCh37: 2:189949935-189949935
GRCh38: 2:189085209-189085209
25 COL5A2 NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) SNV Uncertain significance 642815 rs760408439 GRCh37: 2:189929284-189929284
GRCh38: 2:189064558-189064558
26 COL5A2 NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu) SNV Uncertain significance 931040 GRCh37: 2:189904267-189904267
GRCh38: 2:189039541-189039541
27 COL5A2 NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) SNV Uncertain significance 213114 rs374549843 GRCh37: 2:189912958-189912958
GRCh38: 2:189048232-189048232
28 COL5A2 NM_000393.5(COL5A2):c.2955A>G (p.Pro985=) SNV Uncertain significance 931340 GRCh37: 2:189915379-189915379
GRCh38: 2:189050653-189050653
29 COL5A2 NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu) SNV Uncertain significance 931920 GRCh37: 2:189901398-189901398
GRCh38: 2:189036672-189036672
30 COL5A2 NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr) SNV Uncertain significance 932005 GRCh37: 2:189904192-189904192
GRCh38: 2:189039466-189039466
31 COL5A2 NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) SNV Likely benign 898195 GRCh37: 2:189912937-189912937
GRCh38: 2:189048211-189048211
32 COL5A2 NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) SNV Likely benign 333137 rs773168254 GRCh37: 2:189914101-189914101
GRCh38: 2:189049375-189049375
33 COL5A2 NM_000393.5(COL5A2):c.3039+15C>T SNV Likely benign 385826 rs114619770 GRCh37: 2:189915280-189915280
GRCh38: 2:189050554-189050554
34 COL5A2 NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) SNV Likely benign 798246 rs756259584 GRCh37: 2:189915328-189915328
GRCh38: 2:189050602-189050602
35 COL5A2 NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) SNV Likely benign 333147 rs540573303 GRCh37: 2:189948711-189948711
GRCh38: 2:189083985-189083985
36 COL5A2 NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) SNV Likely benign 377736 rs760946138 GRCh37: 2:189916082-189916082
GRCh38: 2:189051356-189051356
37 COL5A2 NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) SNV Likely benign 213092 rs201486858 GRCh37: 2:189916926-189916926
GRCh38: 2:189052200-189052200
38 COL5A2 NM_000393.5(COL5A2):c.2661+13G>T SNV Likely benign 516155 rs534626192 GRCh37: 2:189917624-189917624
GRCh38: 2:189052898-189052898
39 COL5A2 NM_000393.5(COL5A2):c.-96G>T SNV Likely benign 896701 GRCh37: 2:190044426-190044426
GRCh38: 2:189179700-189179700
40 COL5A2 NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) SNV Likely benign 377732 rs140609193 GRCh37: 2:189943284-189943284
GRCh38: 2:189078558-189078558
41 COL5A2 NM_000393.5(COL5A2):c.906+10A>T SNV Likely benign 333146 rs776578452 GRCh37: 2:189945706-189945706
GRCh38: 2:189080980-189080980
42 COL5A2 NM_000393.5(COL5A2):c.*1331C>G SNV Likely benign 898140 GRCh37: 2:189897465-189897465
GRCh38: 2:189032739-189032739
43 COL5A2 NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu) SNV Likely benign 898269 GRCh37: 2:189974971-189974971
GRCh38: 2:189110245-189110245
44 COL5A2 NM_000393.5(COL5A2):c.263C>A (p.Pro88His) SNV Likely benign 213134 rs149877855 GRCh37: 2:189975010-189975010
GRCh38: 2:189110284-189110284
45 COL5A2 NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) SNV Likely benign 811150 rs979486002 GRCh37: 2:189899795-189899795
GRCh38: 2:189035069-189035069
46 COL5A2 NM_000393.5(COL5A2):c.4114-18_4114-17del Deletion Likely benign 513670 rs1440458273 GRCh37: 2:189899898-189899899
GRCh38: 2:189035172-189035173
47 COL5A2 NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) SNV Likely benign 213128 rs141777954 GRCh37: 2:189899700-189899700
GRCh38: 2:189034974-189034974
48 COL5A2 NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) SNV Likely benign 333140 rs370774253 GRCh37: 2:189918159-189918159
GRCh38: 2:189053433-189053433
49 COL5A2 NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) SNV Likely benign 213150 rs149737825 GRCh37: 2:189918922-189918922
GRCh38: 2:189054196-189054196
50 COL5A2 NM_000393.5(COL5A2):c.1977+12T>G SNV Likely benign 377734 rs202204374 GRCh37: 2:189927579-189927579
GRCh38: 2:189062853-189062853

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 2:

72
# Symbol AA change Variation ID SNP ID
1 COL5A2 p.Gly963Arg VAR_013588 rs118655079
2 COL5A2 p.Gly228Arg VAR_078424

Expression for Ehlers-Danlos Syndrome, Classic Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic Type, 2.

Pathways for Ehlers-Danlos Syndrome, Classic Type, 2

Pathways related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 COL5A2 COL5A1 COL3A1 CD36
2
Show member pathways
12.53 COL5A2 COL5A1 COL3A1
3
Show member pathways
12.35 COL5A2 COL5A1 COL3A1
4
Show member pathways
12.23 COL5A2 COL5A1 COL3A1
5
Show member pathways
12.09 COL5A2 COL5A1 COL3A1
6
Show member pathways
11.45 COL3A1 CD36
7 10.66 COL3A1 CD36
8 10.45 COL5A2 COL5A1 COL3A1
9 10.43 COL5A2 COL5A1 COL3A1

GO Terms for Ehlers-Danlos Syndrome, Classic Type, 2

Cellular components related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.67 COL5A2 COL5A1 COL3A1 CD36
2 collagen-containing extracellular matrix GO:0062023 9.5 COL5A2 COL5A1 COL3A1
3 endoplasmic reticulum lumen GO:0005788 9.43 COL5A2 COL5A1 COL3A1
4 extracellular matrix GO:0031012 9.33 COL5A2 COL5A1 COL3A1
5 collagen type V trimer GO:0005588 8.96 COL5A2 COL5A1
6 collagen trimer GO:0005581 8.92 COL5A2 COL5A1 COL3A1 CD36

Biological processes related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 COL5A2 COL5A1 COL3A1
2 skeletal system development GO:0001501 9.4 COL5A2 COL3A1
3 collagen fibril organization GO:0030199 9.33 COL5A2 COL5A1 COL3A1
4 supramolecular fiber organization GO:0097435 9.32 COL5A1 COL3A1
5 eye morphogenesis GO:0048592 9.26 COL5A2 COL5A1
6 negative regulation of endodermal cell differentiation GO:1903225 8.96 COL5A2 COL5A1
7 skin development GO:0043588 8.8 COL5A2 COL5A1 COL3A1

Molecular functions related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.26 COL5A1 COL3A1
2 platelet-derived growth factor binding GO:0048407 9.16 COL5A1 COL3A1
3 extracellular matrix structural constituent GO:0005201 9.13 COL5A2 COL5A1 COL3A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL5A2 COL5A1 COL3A1

Sources for Ehlers-Danlos Syndrome, Classic Type, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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