EDSCL1
MCID: EHL073
MIFTS: 54

Ehlers-Danlos Syndrome, Classic Type, 1 (EDSCL1)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic Type, 1:

Name: Ehlers-Danlos Syndrome, Classic Type, 1 57 72
Ehlers-Danlos Syndrome, Type I 72 13 54
Ehlers-Danlos Syndrome, Classic Type I 29 6
Ehlers-Danlos Syndrome Classic Type 1 12 15
Ehlers-Danlos Syndrome, Gravis Type 72 6
Ehlers-Danlos Syndrome Type 1 44 70
Edscl1 57 72
Ehlers-Danlos Syndrome, Type I, Formerly; Eds1, Formerly 57
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly 57
Ehlers-Danlos Syndrome, Gravis Type, Formerly 57
Ehlers-Danlos Syndrome, Severe Classic Type 72
Ehlers-Danlos Syndrome, Type I, Formerly 57
Syndrome, Ehlers-Danlos, Classic, Type 1 39
Ehlers-Danlos Syndrome, Type 1 12
Type I Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome Type 2 70
Ehlers-Danlos Syndrome 1 72
Eds I, Formerly 57
Eds1, Formerly 57
Eds I 72
Eds1 72

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated patients with classic eds and a mutation in col1a1 has been reported


HPO:

31
ehlers-danlos syndrome, classic type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic Type, 1

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, classic type, 1: 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. EDSCL1 inheritance is autosomal dominant.

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, 1, also known as ehlers-danlos syndrome, type i, is related to ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, vascular type. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 1 is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone, colon and skin, and related phenotypes are pectus excavatum and hemoptysis

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has material basis in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.

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). (130000) (Updated 20-May-2021)

Related Diseases for Ehlers-Danlos Syndrome, Classic Type, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 31.6 LOC101448202 COL5A2 COL5A1 COL3A1
2 ehlers-danlos syndrome, vascular type 30.5 COL5A1 COL3A1
3 hypermobile ehlers-danlos syndrome 30.3 LOC101448202 COL5A2 COL5A1 COL1A1
4 classic ehlers-danlos syndrome 30.2 TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
5 collagen disease 29.4 TGFBR1 DSE COL5A2 COL5A1 COL3A1 COL1A2
6 ehlers-danlos syndrome 28.9 TGFBR1 LOC101448202 DSE COL5A2 COL5A1 COL3A1
7 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 11.7
8 ehlers-danlos syndrome, classic-like 11.5
9 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A2 COL1A1
10 col1a1/2 osteogenesis imperfecta 10.3 COL1A2 COL1A1
11 high bone mass osteogenesis imperfecta 10.3 COL1A2 COL1A1
12 arthrochalasia ehlers-danlos syndrome 10.3 COL1A2 COL1A1
13 fibrogenesis imperfecta ossium 10.3 COL1A2 COL1A1
14 ehlers-danlos syndrome, arthrochalasia type, 2 10.3 COL1A2 COL1A1
15 scleroderma, familial progressive 10.3 COL1A2 COL1A1
16 epicondylitis 10.3 COL5A1 COL1A1
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
18 lipoblastoma 10.3 COL3A1 COL1A2
19 diffuse scleroderma 10.3 COL1A2 COL1A1
20 syndromic x-linked intellectual disability cabezas type 10.2 COL1A2 COL1A1
21 pulsating exophthalmos 10.2 TGFBR1 COL3A1
22 plantar fascial fibromatosis 10.2 COL3A1 COL1A1
23 osteogenesis imperfecta, type v 10.2 COL1A2 COL1A1
24 ehlers-danlos syndrome, cardiac valvular type 10.2 COL1A2 COL1A1
25 musculocontractural ehlers-danlos syndrome 10.2 DSE CHST14
26 osteogenesis imperfecta, type vii 10.2 COL1A2 COL1A1
27 osteogenesis imperfecta, type iii 10.2 COL5A2 COL1A2 COL1A1
28 pelvic organ prolapse 10.2 COL3A1 COL1A2 COL1A1
29 x-linked alport syndrome 10.2 COL1A2 COL1A1
30 ehlers-danlos syndrome, musculocontractural type, 2 10.2 DSE CHST14
31 frozen shoulder 10.2 TGFBR1 COL1A1
32 aortic aneurysm, familial thoracic 1 10.1 TGFBR1 COL5A1 COL3A1
33 osteogenesis imperfecta, type iv 10.1 DSPP COL1A2 COL1A1
34 dentinogenesis imperfecta 10.1 DSPP COL1A2 COL1A1
35 bladder diverticulum 10.1
36 ehlers-danlos syndrome, dermatosparaxis type 10.1
37 dentin dysplasia 10.1
38 caspase 8 deficiency 10.1 COL5A2 COL5A1
39 osteogenesis imperfecta, type ii 10.1 COL5A2 COL5A1 COL1A2 COL1A1
40 intracranial aneurysm 10.1 TGFBR1 COL3A1 COL1A2
41 tricuspid valve prolapse 10.1 TGFBR1 COL3A1 CHST14
42 stickler syndrome 10.1 COL5A2 COL5A1 COL1A2 COL1A1
43 larsen-like syndrome b3gat3 type 10.1 DSE CHST14 AEBP1
44 dwarfism 10.1
45 hypermobility syndrome 10.1 COL5A2 COL5A1 COL3A1 COL1A1
46 larsen-like syndrome 10.1 COL5A2 COL3A1 COL1A2 COL1A1
47 odontoma 10.0 LHX8 DSPP
48 arterial tortuosity syndrome 10.0 TGFBR1 COL3A1
49 aortic valve disease 1 10.0 TGFBR1 COL5A2 COL5A1 COL3A1
50 aortic aneurysm 10.0 TGFBR1 FOXE3 COL3A1

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Classic Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Classic Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type, 1

Human phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 1:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 very rare (1%) HP:0000767
2 hemoptysis 31 very rare (1%) HP:0002105
3 aortic root aneurysm 31 very rare (1%) HP:0002616
4 recurrent sinusitis 31 very rare (1%) HP:0011108
5 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
6 inguinal hernia 31 HP:0000023
7 umbilical hernia 31 HP:0001537
8 pes planus 31 HP:0001763
9 short stature 31 HP:0004322
10 epicanthus 31 HP:0000286
11 myopia 31 HP:0000545
12 mitral valve prolapse 31 HP:0001634
13 ectopia lentis 31 HP:0001083
14 joint dislocation 31 HP:0001373
15 bruising susceptibility 31 HP:0000978
16 osteoarthritis 31 HP:0002758
17 blue sclerae 31 HP:0000592
18 hyperextensible skin 31 HP:0000974
19 cigarette-paper scars 31 HP:0001073
20 fragile skin 31 HP:0001030
21 poor wound healing 31 HP:0001058
22 soft skin 31 HP:0000977
23 infantile muscular hypotonia 31 HP:0008947
24 bowel diverticulosis 31 HP:0005222
25 lop ear 31 HP:0000394
26 irregularly spaced teeth 31 HP:0006316
27 hyperextensibility at elbow 31 HP:0010485
28 hyperextensibility of the finger joints 31 HP:0001187
29 molluscoid pseudotumors 31 HP:0000993
30 subcutaneous spheroids 31 HP:0025014
31 narrow maxilla 31 HP:0002010
32 premature birth following premature rupture of fetal membranes 31 HP:0005100
33 hyperextensibility of the knee 31 HP:0010500

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Cardiovascular Heart:
mitral valve prolapse
aortic root dilatation

Skeletal:
osteoarthritis

Head And Neck Face:
narrow maxilla

Head And Neck Ears:
hypermobile
lop ears

Abdomen Gastrointestinal:
spontaneous bowel rupture
bowel diverticula

Skeletal Feet:
pes planus

Head And Neck Eyes:
myopia
ectopia lentis
blue sclerae
epicanthal folds

Skeletal Limbs:
joint hypermobility
joint dislocation (hip, shoulder, elbow, knee, or clavicle)

Skin Nails Hair Skin:
cigarette-paper scars
fragile skin
poor wound healing
molluscoid pseudotumors
easy bruisability
more
Prenatal Manifestations Delivery:
premature birth following premature rupture of fetal membranes

Head And Neck Mouth:
small, irregularly placed teeth

Neurologic Central Nervous System:
hypotonia in infancy

Clinical features from OMIM®:

130000 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 AEBP1 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
2 integument MP:0010771 9.81 AEBP1 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3 limbs/digits/tail MP:0005371 9.5 AEBP1 CHST14 COL1A1 COL1A2 DSE RAI1
4 mortality/aging MP:0010768 9.4 AEBP1 CHST14 COL1A1 COL1A2 COL3A1 COL5A1

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type, 1

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Classic Type, 1

Cochrane evidence based reviews: ehlers-danlos syndrome type 1

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type, 1

Genetic tests related to Ehlers-Danlos Syndrome, Classic Type, 1:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type I 29 COL5A1

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Classic Type, 1:

40
Bone, Colon, Skin, Kidney

Publications for Ehlers-Danlos Syndrome, Classic Type, 1

Articles related to Ehlers-Danlos Syndrome, Classic Type, 1:

(show top 50) (show all 145)
# Title Authors PMID Year
1
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 6 54 61
8923000 1996
2
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 54 6 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. 6 57
22696272 2012
4
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. 6 57
20635400 2010
5
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 57 6
15580559 2005
6
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. 6 57
15264295 2004
7
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 57 6
10739762 2000
8
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. 61 6 54
12145749 2002
9
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. 61 57 54
1684560 1991
10
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). 6 54
10796876 2000
11
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 61 6
9425231 1998
12
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. 57 61
8752669 1996
13
Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred. 61 57
6237581 1984
14
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
15
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta. 6
31414283 2020
16
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 6
30675029 2019
17
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. 6
30715774 2019
18
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. 6
30759870 2019
19
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 6
29595812 2018
20
The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome. 6
29250776 2018
21
Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. 6
28714197 2018
22
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. 6
28485813 2017
23
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. 6
28725987 2017
24
Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 6
26371943 2017
25
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 6
28810924 2017
26
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 6
28378289 2017
27
The 2017 international classification of the Ehlers-Danlos syndromes. 57
28306229 2017
28
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 6
28498836 2017
29
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 6
27510842 2017
30
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 6
27509835 2016
31
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 6
27748872 2016
32
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 6
27519266 2016
33
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
34
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. 6
26402641 2016
35
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. 6
26471105 2016
36
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 6
26627451 2015
37
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 6
26432670 2015
38
Dissecting Aneurysm of the Recurrent Artery of Heubner in a Patient With Osteogenesis Imperfecta. 6
26551090 2015
39
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 6
26177859 2015
40
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 6
25944380 2015
41
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV. 6
25835785 2015
42
Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases. 6
25289482 2015
43
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. 6
25450603 2015
44
Genetics of Osteoporosis in Children. 6
26138843 2015
45
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure. 6
25146735 2014
46
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 6
24668929 2014
47
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. 6
24342908 2014
48
A rare case of osteogenesis imperfecta combined with complete tooth loss. 6
23934635 2014
49
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. 6
23692737 2013
50
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 6
23587214 2013

Variations for Ehlers-Danlos Syndrome, Classic Type, 1

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 1:

6 (show top 50) (show all 1755)
# 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 COL5A1 NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) Deletion Pathogenic 374262 rs1057518653 GRCh37: 9:137704468-137704468
GRCh38: 9:134812622-134812622
3 COL5A1 NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs) Duplication Pathogenic 375637 rs1057519596 GRCh37: 9:137659166-137659167
GRCh38: 9:134767320-134767321
4 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134701171)_(134835204_?)del Deletion Pathogenic 417456 GRCh37: 9:137593017-137727050
GRCh38: 9:134701171-134835204
5 COL5A1 NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter) SNV Pathogenic 409113 rs1060502258 GRCh37: 9:137658855-137658855
GRCh38: 9:134767009-134767009
6 COL5A1 NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter) SNV Pathogenic 409086 rs769752636 GRCh37: 9:137622232-137622232
GRCh38: 9:134730386-134730386
7 COL5A1 NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) Deletion Pathogenic 409108 rs764693725 GRCh37: 9:137693829-137693829
GRCh38: 9:134801983-134801983
8 COL5A1 NM_001278074.1(COL5A1):c.2430+1G>A SNV Pathogenic 409094 rs1060502248 GRCh37: 9:137671993-137671993
GRCh38: 9:134780147-134780147
9 COL5A1 NM_000093.4(COL5A1):c.4232delG Deletion Pathogenic 409114 rs1060502259 GRCh37: 9:137710501-137710501
GRCh38: 9:134818655-134818655
10 COL5A1 NM_001278074.1(COL5A1):c.2034+1G>A SNV Pathogenic 281486 rs886042173 GRCh37: 9:137655584-137655584
GRCh38: 9:134763738-134763738
11 COL5A1 NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs) Microsatellite Pathogenic 409087 rs1060502242 GRCh37: 9:137582874-137582875
GRCh38: 9:134691028-134691029
12 COL5A1 NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) Deletion Pathogenic 409107 rs1060502255 GRCh37: 9:137709649-137709649
GRCh38: 9:134817803-134817803
13 COL5A1 NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) Duplication Pathogenic 459671 rs1554803622 GRCh37: 9:137697005-137697006
GRCh38: 9:134805159-134805160
14 COL5A1 NC_000009.12:g.(?_134690892)_(134763757_?)del Deletion Pathogenic 459648 GRCh37: 9:137582738-137655603
GRCh38: 9:134690892-134763757
15 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) Deletion Pathogenic 459711 rs1554726279 GRCh37: 9:137726978-137726978
GRCh38: 9:134835132-134835132
16 COL5A1 NM_001278074.1(COL5A1):c.2988dup (p.Gly997fs) Duplication Pathogenic 459667 rs764693725 GRCh37: 9:137693828-137693829
GRCh38: 9:134801982-134801983
17 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) Deletion Pathogenic 459702 rs1554807812 GRCh37: 9:137715273-137715277
GRCh38: 9:134823427-134823431
18 COL5A1 NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter) SNV Pathogenic 459681 rs1554805142 GRCh37: 9:137704511-137704511
GRCh38: 9:134812665-134812665
19 COL5A1 NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) Deletion Pathogenic 529237 rs1179967153 GRCh37: 9:137688741-137688741
GRCh38: 9:134796895-134796895
20 COL5A1 NC_000009.12:g.(?_134752569)_(134752665_?)del Deletion Pathogenic 529307 GRCh37: 9:137644415-137644511
GRCh38: 9:134752569-134752665
21 COL5A1 NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) Deletion Pathogenic 568293 rs1564475090 GRCh37: 9:137703436-137703436
GRCh38: 9:134811590-134811590
22 COL5A1 NM_001278074.1(COL5A1):c.3309_3325dup (p.Pro1109fs) Duplication Pathogenic 568667 rs1564471440 GRCh37: 9:137698084-137698085
GRCh38: 9:134806238-134806239
23 COL5A1 NM_000093.4(COL5A1):c.2389delG Deletion Pathogenic 569177 rs1564453833 GRCh37: 9:137671947-137671947
GRCh38: 9:134780101-134780101
24 COL5A1 NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) SNV Pathogenic 519624 rs1554792869 GRCh37: 9:137646125-137646125
GRCh38: 9:134754279-134754279
25 COL5A1 NM_000093.4(COL5A1):c.3746delG Deletion Pathogenic 573613 rs35002351 GRCh37: 9:137704450-137704450
GRCh38: 9:134812604-134812604
26 COL5A1 NM_000093.4(COL5A1):c.1720-136_1929del Deletion Pathogenic 573641 GRCh37: 9:137645560-137650136
GRCh38: 9:134753714-134758290
27 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) Deletion Pathogenic 576449 rs1564487306 GRCh37: 9:137716654-137716654
GRCh38: 9:134824808-134824808
28 COL5A1 NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) Deletion Pathogenic 578798 rs1564457102 GRCh37: 9:137676912-137676912
GRCh38: 9:134785066-134785066
29 COL5A1 NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) Deletion Pathogenic 580851 rs1564418237 GRCh37: 9:137623945-137623945
GRCh38: 9:134732099-134732099
30 COL5A1 NM_001278074.1(COL5A1):c.2164C>T (p.Gln722Ter) SNV Pathogenic 580705 rs1564446117 GRCh37: 9:137658876-137658876
GRCh38: 9:134767030-134767030
31 COL5A1 NC_000009.12:g.(?_134699889)_(134700142_?)del Deletion Pathogenic 583819 GRCh37: 9:137591735-137591988
GRCh38: 9:134699889-134700142
32 COL5A1 NM_001278074.1(COL5A1):c.4338+1G>A SNV Pathogenic 619958 rs1564481053 GRCh37: 9:137710610-137710610
GRCh38: 9:134818764-134818764
33 COL5A1 GRCh37/hg19 9q34.3(chr9:137496881-137648441) copy number loss Pathogenic 625555 GRCh37: 9:137496881-137648441
GRCh38:
34 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5336_5337delinsG (p.Asn1779fs) Indel Pathogenic 638817 rs1588615658 GRCh37: 9:137727016-137727017
GRCh38: 9:134835170-134835171
35 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter) SNV Pathogenic 642115 rs776640704 GRCh37: 9:137726835-137726835
GRCh38: 9:134834989-134834989
36 COL5A1 NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter) SNV Pathogenic 646030 rs1588449879 GRCh37: 9:137593019-137593019
GRCh38: 9:134701173-134701173
37 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134642178)_(134768473_?)del Deletion Pathogenic 655757 GRCh37: 9:137534024-137660319
GRCh38: 9:134642178-134768473
38 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter) SNV Pathogenic 658666 rs1219304070 GRCh37: 9:137716674-137716674
GRCh38: 9:134824828-134824828
39 COL5A1 NM_000093.5(COL5A1):c.2660del (p.Phe887fs) Deletion Pathogenic 660180 rs1588551159 GRCh37: 9:137681013-137681013
GRCh38: 9:134789167-134789167
40 COL5A1 NM_001278074.1(COL5A1):c.2425G>T (p.Glu809Ter) SNV Pathogenic 660562 rs1032017865 GRCh37: 9:137671987-137671987
GRCh38: 9:134780141-134780141
41 COL5A1 NM_001278074.1(COL5A1):c.2952+2_2952+3del Microsatellite Pathogenic 662439 rs1588562135 GRCh37: 9:137690307-137690308
GRCh38: 9:134798461-134798462
42 COL5A1 NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs) Duplication Pathogenic 659911 rs1588448655 GRCh37: 9:137591772-137591773
GRCh38: 9:134699926-134699927
43 COL5A1 NC_000009.12:g.(?_134690902)_(134727407_?)del Deletion Pathogenic 662836 GRCh37: 9:137582748-137619253
GRCh38: 9:134690902-134727407
44 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs) Duplication Pathogenic 664381 rs1588589663 GRCh37: 9:137712059-137712060
GRCh38: 9:134820213-134820214
45 COL5A1 , LOC101448202 NC_000009.12:g.134824601del Deletion Pathogenic 802532 rs1588597744 GRCh37: 9:137716445-137716445
GRCh38: 9:134824599-134824599
46 COL1A2 NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) Deletion Pathogenic 802334 rs1584319045 GRCh37: 7:94038696-94038714
GRCh38: 7:94409384-94409402
47 COL5A1 , LOC101448202 NM_000093.5(COL5A1):c.4628del (p.Gly1543fs) Deletion Pathogenic 847820 GRCh37: 9:137714862-137714862
GRCh38: 9:134823016-134823016
48 COL5A1 NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter) SNV Pathogenic 849026 GRCh37: 9:137582913-137582913
GRCh38: 9:134691067-134691067
49 COL5A1 NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs) Deletion Pathogenic 853480 GRCh37: 9:137622251-137622252
GRCh38: 9:134730405-134730406
50 COL5A1 NM_000093.5(COL5A1):c.3297del (p.Ile1101fs) Deletion Pathogenic 854017 GRCh37: 9:137698071-137698071
GRCh38: 9:134806225-134806225

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 1:

72
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg312Cys VAR_013579 rs72645347
2 COL5A1 p.Cys1639Ser VAR_001808 rs80338764
3 COL5A1 p.Gly530Ser VAR_015412 rs61735045
4 COL5A1 p.Gly1489Asp VAR_015413
5 COL5A1 p.Leu25Pro VAR_057902
6 COL5A1 p.Leu25Arg VAR_057903
7 COL5A1 p.Gly1486Cys VAR_057909

Expression for Ehlers-Danlos Syndrome, Classic Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic Type, 1.

Pathways for Ehlers-Danlos Syndrome, Classic Type, 1

Pathways related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 TGFBR1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
2
Show member pathways
12.64 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3
Show member pathways
12.56 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4
Show member pathways
12.09 DSPP COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
5
Show member pathways
11.92 DSPP COL1A2 COL1A1
6 11.79 COL3A1 COL1A2 COL1A1
7
Show member pathways
11.7 COL3A1 COL1A2 COL1A1
8 11.68 COL3A1 COL1A2 COL1A1
9 11.46 TGFBR1 COL3A1 COL1A2 COL1A1
10 11.37 COL3A1 COL1A2 COL1A1
11 11.21 COL3A1 COL1A2 COL1A1
12 10.95 COL3A1 COL1A2 COL1A1
13 10.9 COL1A2 COL1A1
14 10.76 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
15 10.56 COL5A2 COL5A1 COL3A1 COL1A2

GO Terms for Ehlers-Danlos Syndrome, Classic Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.72 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.63 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1 AEBP1
3 extracellular matrix GO:0031012 9.43 DSPP COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4 collagen type V trimer GO:0005588 9.37 COL5A2 COL5A1
5 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1
6 collagen trimer GO:0005581 9.02 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

Biological processes related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.73 COL3A1 COL1A2 COL1A1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.72 TGFBR1 COL3A1 COL1A2
3 ossification GO:0001503 9.71 DSPP COL5A2 COL1A1
4 wound healing GO:0042060 9.7 TGFBR1 COL3A1 COL1A1
5 extracellular matrix organization GO:0030198 9.63 DSPP COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
6 blood vessel development GO:0001568 9.61 COL5A1 COL1A2 COL1A1
7 cellular response to amino acid stimulus GO:0071230 9.58 COL5A2 COL1A2 COL1A1
8 skin development GO:0043588 9.56 COL5A2 COL5A1 COL3A1 COL1A1
9 supramolecular fiber organization GO:0097435 9.51 COL5A1 COL3A1
10 skeletal system development GO:0001501 9.5 TGFBR1 RAI1 DSPP COL5A2 COL3A1 COL1A2
11 dermatan sulfate biosynthetic process GO:0030208 9.49 DSE CHST14
12 skin morphogenesis GO:0043589 9.48 COL1A2 COL1A1
13 collagen biosynthetic process GO:0032964 9.46 COL5A1 COL1A1
14 eye morphogenesis GO:0048592 9.37 COL5A2 COL5A1
15 negative regulation of endodermal cell differentiation GO:1903225 9.32 COL5A2 COL5A1
16 collagen fibril organization GO:0030199 9.1 TGFBR1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

Molecular functions related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.5 COL3A1 COL1A2 COL1A1
2 platelet-derived growth factor binding GO:0048407 9.46 COL5A1 COL3A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.43 TGFBR1 COL5A2 COL1A2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.35 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
5 extracellular matrix structural constituent GO:0005201 9.17 DSPP COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

Sources for Ehlers-Danlos Syndrome, Classic Type, 1

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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