EDSCV
MCID: EHL061
MIFTS: 46

Ehlers-Danlos Syndrome, Cardiac Valvular Type (EDSCV)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Cardiac Valvular Type:

Name: Ehlers-Danlos Syndrome, Cardiac Valvular Type 57 20 72 29 6
Ehlers-Danlos Syndrome Cardiac Valvular Type 12 36 6
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 20 72
Cardiac-Valvular Ehlers-Danlos Syndrome 20 58
Cardiac-Valvular Eds 20 58
Edscv 57 72
Cveds 20 58
Eds, Cardiac Valvular Type 20

Characteristics:

Orphanet epidemiological data:

58
cardiac-valvular ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, cardiac valvular type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Type

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, cardiac valvular type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation.

MalaCards based summary : Ehlers-Danlos Syndrome, Cardiac Valvular Type, also known as ehlers-danlos syndrome cardiac valvular type, is related to ehlers-danlos syndrome and brittle bone disorder. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Type is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include heart, and related phenotypes are mitral regurgitation and hyperextensible skin

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has material basis in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 230851 Definition Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

KEGG : 36 Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.

More information from OMIM: 225320 PS130000

Related Diseases for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Diseases related to Ehlers-Danlos Syndrome, Cardiac Valvular Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 31.2 COL1A2 COL1A1
2 brittle bone disorder 29.7 COL1A2 COL1A1
3 ptosis 10.2
4 heart valve disease 10.2
5 hypermobile ehlers-danlos syndrome 10.2
6 ehlers-danlos syndrome, arthrochalasia type, 1 9.9 COL1A1 ALB
7 ehlers-danlos/osteogenesis imperfecta syndrome 9.8 COL1A2 COL1A1
8 col1a1/2 osteogenesis imperfecta 9.8 COL1A2 COL1A1
9 high bone mass osteogenesis imperfecta 9.8 COL1A2 COL1A1
10 larsen-like syndrome 9.8 COL1A2 COL1A1
11 fibrogenesis imperfecta ossium 9.8 COL1A2 COL1A1
12 scleroderma, familial progressive 9.8 COL1A2 COL1A1
13 diffuse scleroderma 9.8 COL1A2 COL1A1
14 syndromic x-linked intellectual disability cabezas type 9.8 COL1A2 COL1A1
15 osteogenesis imperfecta, type v 9.8 COL1A2 COL1A1
16 osteogenesis imperfecta, type vii 9.8 COL1A2 COL1A1
17 classic ehlers-danlos syndrome 9.8 COL1A2 COL1A1
18 x-linked alport syndrome 9.8 COL1A2 COL1A1
19 bruck syndrome 9.8 COL1A2 COL1A1
20 caffey disease 9.8 COL1A2 COL1A1
21 osteoporosis, juvenile 9.8 COL1A2 COL1A1
22 spinal stenosis 9.8 COL1A2 COL1A1
23 osteogenesis imperfecta, type i 9.8 COL1A2 COL1A1
24 oral submucous fibrosis 9.8 COL1A2 COL1A1
25 collagen disease 9.8 COL1A2 COL1A1
26 pelvic organ prolapse 9.8 COL1A2 COL1A1
27 osteogenesis imperfecta, type ii 9.8 COL1A2 COL1A1
28 bone structure disease 9.8 COL1A2 COL1A1
29 osteogenesis imperfecta, type iv 9.7 COL1A2 COL1A1
30 ehlers-danlos syndrome, classic type, 1 9.7 COL1A2 COL1A1
31 portal hypertension 9.7 COL1A1 ALB
32 dentinogenesis imperfecta 9.7 COL1A2 COL1A1
33 osteogenesis imperfecta, type iii 9.7 COL1A2 COL1A1
34 bone development disease 9.7 COL1A2 COL1A1
35 endosteal hyperostosis, autosomal dominant 9.7 COL1A2 COL1A1
36 hyperostosis 9.7 COL1A2 COL1A1
37 otosclerosis 9.7 COL1A2 COL1A1
38 stickler syndrome 9.7 COL1A2 COL1A1
39 marfan syndrome 9.6 COL1A2 COL1A1
40 congenital hypothyroidism 9.6 COL1A1 ALB
41 hemorrhagic disease 9.6 COL1A1 ALB
42 arthrochalasia ehlers-danlos syndrome 9.5 COL1A2 COL1A1 ALB
43 ehlers-danlos syndrome, arthrochalasia type, 2 9.5 COL1A2 COL1A1 ALB
44 bone resorption disease 9.5 COL1A2 COL1A1 ALB
45 bone remodeling disease 9.5 COL1A2 COL1A1 ALB
46 phenylketonuria 9.5 COL1A2 COL1A1 ALB
47 alport syndrome 9.5 COL1A2 COL1A1 ALB
48 pulmonary fibrosis, idiopathic 9.5 COL1A2 COL1A1 ALB
49 scoliosis 9.5 COL1A2 COL1A1 ALB
50 connective tissue disease 9.5 COL1A2 COL1A1 ALB

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



Diseases related to Ehlers-Danlos Syndrome, Cardiac Valvular Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Human phenotypes related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mitral regurgitation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001653
2 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
3 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
4 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
5 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
6 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 genu recurvatum 58 31 frequent (33%) Frequent (79-30%) HP:0002816
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
11 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
12 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
13 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
14 tricuspid regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0005180
15 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
16 aortic root aneurysm 58 31 frequent (33%) Frequent (79-30%) HP:0002616
17 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
18 long fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100807
19 atrophic scars 58 31 frequent (33%) Frequent (79-30%) HP:0001075
20 poor wound healing 58 31 frequent (33%) Frequent (79-30%) HP:0001058
21 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
22 absent phalangeal crease 58 31 frequent (33%) Frequent (79-30%) HP:0006109
23 hypermobility of distal interphalangeal joints 58 31 frequent (33%) Frequent (79-30%) HP:0006201
24 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
25 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
26 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
27 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
28 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
29 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
30 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
31 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
32 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
33 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
34 disproportionate tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001519
35 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
36 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
37 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
38 tendon rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0100550
39 thoracolumbar scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002944
40 severe conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0012717
41 pulmonary insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0010444
42 calcaneovalgus deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001848
43 recurrent shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0031610
44 myopic astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0500041
45 seizure 31 occasional (7.5%) HP:0001250
46 seizures 58 Occasional (29-5%)
47 abnormal heart valve morphology 58 Very frequent (99-80%)
48 joint laxity 31 HP:0001388
49 joint hypermobility 58 Very frequent (99-80%)
50 joint dislocation 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Limbs:
genu recurvatum

Skeletal:
joint laxity

Skin Nails Hair Skin:
thin skin
atrophic scars
soft skin
easy bruisability
skin hyperextensibility
more
Laboratory Abnormalities:
absent pro alpha 2(i) chain synthesis (fibroblasts)

Skeletal Feet:
pes planus
calcaneovalgus

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Cardiovascular Heart:
mitral valve prolapse
mitral regurgitation
aortic insufficiency
mitral valve insufficiency

Muscle Soft Tissue:
muscle tears
tendon tears

Clinical features from OMIM®:

225320 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ALB COL1A1 COL1A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Genetic Tests for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Genetic tests related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

40
Heart

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Articles related to Ehlers-Danlos Syndrome, Cardiac Valvular Type:

(show all 14)
# Title Authors PMID Year
1
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 6 57
16816023 2006
2
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 57 6
15077201 2004
3
Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome. 6 57
3383844 1988
4
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. 57 6
3049731 1988
5
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 6
18409203 2008
6
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 6
9295084 1997
7
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
8
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 6
1867198 1991
9
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
10
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 6
2767050 1989
11
Cardiovascular complications in the Ehlers-Danlos syndrome with minimal external findings. 57
2952379 1987
12
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. 6
3082886 1986
13
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 6
6462220 1984
14
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. 61
30821104 2019

Variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Cardiac Valvular Type:

6 (show top 50) (show all 173)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) SNV Pathogenic 17311 rs72667022 GRCh37: 17:48275794-48275794
GRCh38: 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.472-1G>A SNV Pathogenic 17339 rs72667020 GRCh37: 17:48275866-48275866
GRCh38: 17:50198505-50198505
3 COL1A1 NM_000088.3(COL1A1):c.472-2A>T SNV Pathogenic 17350 rs72667019 GRCh37: 17:48275867-48275867
GRCh38: 17:50198506-50198506
4 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln) SNV Pathogenic 18185 rs74821926 GRCh37: 4:74270115-74270115
GRCh38: 4:73404398-73404398
5 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
6 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
7 COL1A2 NM_000089.4(COL1A2):c.540+5G>A SNV Pathogenic 17273 rs72656367 GRCh37: 7:94035043-94035043
GRCh38: 7:94405731-94405731
8 COL1A2 NM_000089.4(COL1A2):c.1404+1G>C SNV Pathogenic 17274 rs67162110 GRCh37: 7:94041434-94041434
GRCh38: 7:94412122-94412122
9 COL1A2 NM_000089.3(COL1A2):c.1404+1G>A SNV Pathogenic 17275 rs67162110 GRCh37: 7:94041434-94041434
GRCh38: 7:94412122-94412122
10 COL1A2 NM_000089.3(COL1A2):c.70+717A>G SNV Pathogenic 17276 rs72656354 GRCh37: 7:94025130-94025130
GRCh38: 7:94395818-94395818
11 COL1A2 NM_000089.3(COL1A2):c.3601G>T (p.Glu1201Ter) SNV Pathogenic 17279 rs72659343 GRCh37: 7:94057679-94057679
GRCh38: 7:94428367-94428367
12 COL1A2 NM_000089.3(COL1A2):c.293dup (p.Pro98_Arg99insTer) Duplication Pathogenic 17280 rs797044459 GRCh37: 7:94033879-94033880
GRCh38: 7:94404567-94404568
13 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) SNV Pathogenic 456848 rs66612022 GRCh37: 7:94039080-94039080
GRCh38: 7:94409768-94409768
14 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) SNV Pathogenic 579070 rs67543427 GRCh37: 7:94039769-94039769
GRCh38: 7:94410457-94410457
15 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV Pathogenic 216908 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
16 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
17 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
18 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
19 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
20 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
21 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely pathogenic 450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
22 COL1A2 NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) SNV Likely pathogenic 644457 rs1584320605 GRCh37: 7:94040458-94040458
GRCh38: 7:94411146-94411146
23 COL1A1 NM_000088.4(COL1A1):c.*1027G>T SNV Uncertain significance 892515 GRCh37: 17:48261836-48261836
GRCh38: 17:50184475-50184475
24 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) SNV Uncertain significance 324113 rs776387246 GRCh37: 17:48272659-48272659
GRCh38: 17:50195298-50195298
25 COL1A2 NM_000089.3(COL1A2):c.52T>C (p.Cys18Arg) SNV Uncertain significance 526891 rs200278401 GRCh37: 7:94024395-94024395
GRCh38: 7:94395083-94395083
26 COL1A1 NM_000088.4(COL1A1):c.*1151C>T SNV Uncertain significance 891320 GRCh37: 17:48261712-48261712
GRCh38: 17:50184351-50184351
27 COL1A1 NM_000088.4(COL1A1):c.*120T>C SNV Uncertain significance 891701 GRCh37: 17:48262743-48262743
GRCh38: 17:50185382-50185382
28 COL1A1 NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) SNV Uncertain significance 779770 rs757759451 GRCh37: 17:48263190-48263190
GRCh38: 17:50185829-50185829
29 COL1A1 NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) SNV Uncertain significance 891900 GRCh37: 17:48265471-48265471
GRCh38: 17:50188110-50188110
30 COL1A1 NM_000088.4(COL1A1):c.804+15A>C SNV Uncertain significance 892126 GRCh37: 17:48274356-48274356
GRCh38: 17:50196995-50196995
31 COL1A2 NM_000089.3(COL1A2):c.286A>G (p.Met96Val) SNV Uncertain significance 423747 rs763509640 GRCh37: 7:94033874-94033874
GRCh38: 7:94404562-94404562
32 COL1A1 NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) SNV Uncertain significance 450185 rs146035171 GRCh37: 17:48263191-48263191
GRCh38: 17:50185830-50185830
33 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) SNV Uncertain significance 324102 rs767525556 GRCh37: 17:48265485-48265485
GRCh38: 17:50188124-50188124
34 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) SNV Uncertain significance 324103 rs575285203 GRCh37: 17:48265929-48265929
GRCh38: 17:50188568-50188568
35 COL1A1 NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) SNV Uncertain significance 388459 rs751299130 GRCh37: 17:48272168-48272168
GRCh38: 17:50194807-50194807
36 COL1A2 NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) SNV Uncertain significance 373178 rs144797861 GRCh37: 7:94058641-94058641
GRCh38: 7:94429329-94429329
37 COL1A1 NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) SNV Uncertain significance 853945 GRCh37: 17:48271957-48271957
GRCh38: 17:50194596-50194596
38 COL1A1 NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp) SNV Uncertain significance 635464 rs151171179 GRCh37: 17:48278798-48278798
GRCh38: 17:50201437-50201437
39 COL1A1 NM_000088.3(COL1A1):c.3099+7T>G SNV Uncertain significance 324104 rs201682029 GRCh37: 17:48266096-48266096
GRCh38: 17:50188735-50188735
40 COL1A1 NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) SNV Uncertain significance 324116 rs763409550 GRCh37: 17:48275140-48275140
GRCh38: 17:50197779-50197779
41 COL1A1 NM_000088.4(COL1A1):c.*1316C>G SNV Uncertain significance 889080 GRCh37: 17:48261547-48261547
GRCh38: 17:50184186-50184186
42 COL1A1 NM_000088.4(COL1A1):c.*1011T>C SNV Uncertain significance 889152 GRCh37: 17:48261852-48261852
GRCh38: 17:50184491-50184491
43 COL1A1 NM_000088.4(COL1A1):c.*837G>A SNV Uncertain significance 889153 GRCh37: 17:48262026-48262026
GRCh38: 17:50184665-50184665
44 COL1A1 NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) SNV Uncertain significance 888580 GRCh37: 17:48271770-48271770
GRCh38: 17:50194409-50194409
45 COL1A1 NM_000088.4(COL1A1):c.1155+12C>T SNV Uncertain significance 888626 GRCh37: 17:48272916-48272916
GRCh38: 17:50195555-50195555
46 COL1A1 NM_000088.4(COL1A1):c.*502C>T SNV Uncertain significance 889215 GRCh37: 17:48262361-48262361
GRCh38: 17:50185000-50185000
47 COL1A1 NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) SNV Uncertain significance 889519 GRCh37: 17:48267715-48267715
GRCh38: 17:50190354-50190354
48 COL1A1 NM_000088.4(COL1A1):c.*356T>A SNV Uncertain significance 889896 GRCh37: 17:48262507-48262507
GRCh38: 17:50185146-50185146
49 COL1A1 NM_000088.4(COL1A1):c.*73C>A SNV Uncertain significance 889274 GRCh37: 17:48262790-48262790
GRCh38: 17:50185429-50185429
50 COL1A1 NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) SNV Uncertain significance 890021 GRCh37: 17:48263696-48263696
GRCh38: 17:50186335-50186335

Expression for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Cardiac Valvular Type.

Pathways for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Pathways related to Ehlers-Danlos Syndrome, Cardiac Valvular Type according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Relaxin signaling pathway hsa04926

Pathways related to Ehlers-Danlos Syndrome, Cardiac Valvular Type according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 COL1A2 COL1A1 ALB
2
Show member pathways
12.1 COL1A2 COL1A1
3 11.85 COL1A2 COL1A1
4
Show member pathways
11.7 COL1A2 COL1A1
5 11.59 COL1A2 COL1A1
6 11.49 COL1A2 COL1A1
7 11.46 COL1A2 COL1A1
8 11.23 COL1A2 COL1A1
9 11.19 COL1A2 COL1A1
10 11.08 COL1A2 COL1A1
11 10.92 COL1A2 COL1A1
12 10.85 COL1A2 COL1A1
13
Show member pathways
10.82 COL1A2 COL1A1 ALB
14 10.67 COL1A2 COL1A1
15 10.32 COL1A2 COL1A1

GO Terms for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 COL1A2 COL1A1 ALB
2 extracellular matrix GO:0031012 9.32 COL1A2 COL1A1
3 collagen trimer GO:0005581 9.16 COL1A2 COL1A1
4 endoplasmic reticulum lumen GO:0005788 9.13 COL1A2 COL1A1 ALB
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.48 COL1A2 COL1A1
2 regulation of immune response GO:0050776 9.46 COL1A2 COL1A1
3 leukocyte migration GO:0050900 9.43 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.4 COL1A2 COL1A1
5 skeletal system development GO:0001501 9.37 COL1A2 COL1A1
6 platelet activation GO:0030168 9.32 COL1A2 COL1A1
7 blood vessel development GO:0001568 9.26 COL1A2 COL1A1
8 cellular response to amino acid stimulus GO:0071230 9.16 COL1A2 COL1A1
9 collagen fibril organization GO:0030199 8.96 COL1A2 COL1A1
10 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 COL1A2 COL1A1 ALB
2 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
3 protease binding GO:0002020 9.16 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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