EDSCV
MCID: EHL061
MIFTS: 32

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 56 52 73 29
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 52 73 29 6
Cardiac-Valvular Ehlers-Danlos Syndrome 52 58
Cardiac-Valvular Eds 52 58
Edscv 56 73
Cveds 52 58
Ehlers-Danlos Syndrome Cardiac Valvular Type 36
Eds, Cardiac Valvular Type 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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


External Ids:

OMIM 56 225320
OMIM Phenotypic Series 56 PS130000
KEGG 36 H02241
MeSH 43 D004535
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 72 C1857034
Orphanet 58 ORPHA230851

Summaries for Ehlers-Danlos Syndrome, Cardiac Valvular Type

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ehlers-Danlos Syndrome, Cardiac Valvular Type, also known as ehlers-danlos syndrome, autosomal recessive, cardiac valvular form, 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 skin, bone and heart, and related phenotypes are pectus excavatum and inguinal hernia

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.

UniProtKB/Swiss-Prot : 73 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.

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:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 11.3
2 brittle bone disorder 10.3
3 ptosis 10.3
4 heart valve disease 10.3
5 hypermobile ehlers-danlos syndrome 10.3

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 all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 Frequent (79-30%) HP:0000767
2 inguinal hernia 58 31 Frequent (79-30%) HP:0000023
3 pes planus 58 31 Frequent (79-30%) HP:0001763
4 thin skin 58 31 Frequent (79-30%) HP:0000963
5 genu recurvatum 58 31 Frequent (79-30%) HP:0002816
6 mitral valve prolapse 58 31 Occasional (29-5%) HP:0001634
7 mitral regurgitation 58 31 Very frequent (99-80%) HP:0001653
8 bruising susceptibility 58 31 Frequent (79-30%) HP:0000978
9 hyperextensible skin 58 31 Very frequent (99-80%) HP:0000974
10 aortic regurgitation 58 31 Frequent (79-30%) HP:0001659
11 atrophic scars 58 31 Frequent (79-30%) HP:0001075
12 calcaneovalgus deformity 58 31 Occasional (29-5%) HP:0001848
13 joint dislocation 58 Frequent (79-30%)
14 genu valgum 58 Frequent (79-30%)
15 seizures 58 Occasional (29-5%)
16 ptosis 58 Frequent (79-30%)
17 high palate 58 Occasional (29-5%)
18 global developmental delay 58 Occasional (29-5%)
19 short stature 58 Occasional (29-5%)
20 hallux valgus 58 Frequent (79-30%)
21 intellectual disability, moderate 58 Occasional (29-5%)
22 thick eyebrow 58 Occasional (29-5%)
23 fatigue 58 Occasional (29-5%)
24 dyspnea 58 Occasional (29-5%)
25 abnormal heart valve morphology 58 Very frequent (99-80%)
26 strabismus 58 Frequent (79-30%)
27 myopia 58 Frequent (79-30%)
28 atrial septal defect 58 Occasional (29-5%)
29 joint laxity 31 HP:0001388
30 kyphoscoliosis 58 Occasional (29-5%)
31 left ventricular hypertrophy 58 Occasional (29-5%)
32 disproportionate tall stature 58 Occasional (29-5%)
33 dental crowding 58 Frequent (79-30%)
34 joint hypermobility 58 Very frequent (99-80%)
35 sandal gap 58 Occasional (29-5%)
36 bulbous nose 58 Occasional (29-5%)
37 poor wound healing 58 Frequent (79-30%)
38 long fingers 58 Frequent (79-30%)
39 tendon rupture 58 Occasional (29-5%)
40 tricuspid regurgitation 58 Frequent (79-30%)
41 aortic root aneurysm 58 Frequent (79-30%)
42 thoracolumbar scoliosis 58 Occasional (29-5%)
43 soft skin 31 HP:0000977
44 pulmonary insufficiency 58 Occasional (29-5%)
45 soft, doughy skin 58 Frequent (79-30%)
46 absent phalangeal crease 58 Frequent (79-30%)
47 hypermobility of distal interphalangeal joints 58 Frequent (79-30%)
48 severe conductive hearing impairment 58 Occasional (29-5%)
49 recurrent shoulder dislocation 58 Occasional (29-5%)
50 myopic astigmatism 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Feet:
pes planus
calcaneovalgus

Skeletal Limbs:
genu recurvatum

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

Laboratory Abnormalities:
absent pro alpha 2(i) chain synthesis (fibroblasts)

Genitourinary External Genitalia Male:
inguinal hernia

Skin Nails Hair Skin:
thin skin
atrophic scars
soft skin
easy bruisability
skin hyperextensibility
more
Skeletal:
joint laxity

Muscle Soft Tissue:
muscle tears
tendon tears

Clinical features from OMIM:

225320

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, Autosomal Recessive, Cardiac Valvular Form 29 COL1A2
2 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29

Anatomical Context for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

40
Skin, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Cardiac Valvular Type

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

# 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. 56 6
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. 56 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. 56 6
3383844 1988
4
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. 56 6
3049731 1988
5
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
6
Cardiovascular complications in the Ehlers-Danlos syndrome with minimal external findings. 56
2952379 1987
7
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 all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A2 NM_000089.3:c.540+5G>ASNV Pathogenic 17273 7:94035043-94035043 7:94405731-94405731
2 COL1A2 NM_000089.3:c.1404+1G>CSNV Pathogenic 17274 7:94041434-94041434 7:94412122-94412122
3 COL1A2 NM_000089.3(COL1A2):c.1404+1G>ASNV Pathogenic 17275 rs67162110 7:94041434-94041434 7:94412122-94412122
4 COL1A2 NM_000089.3(COL1A2):c.70+717A>GSNV Pathogenic 17276 rs72656354 7:94025130-94025130 7:94395818-94395818
5 COL1A2 NM_000089.3(COL1A2):c.3601G>T (p.Glu1201Ter)SNV Pathogenic 17279 rs72659343 7:94057679-94057679 7:94428367-94428367
6 COL1A2 NM_000089.3(COL1A2):c.293dup (p.Pro98_Arg99insTer)duplication Pathogenic 17280 rs797044459 7:94033879-94033880 7:94404567-94404568
7 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)SNV Pathogenic 456848 rs66612022 7:94039080-94039080 7:94409768-94409768
8 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)SNV Pathogenic 579070 rs67543427 7:94039769-94039769 7:94410457-94410457
9 COL1A2 NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)SNV Pathogenic/Likely pathogenic 644457 7:94040458-94040458 7:94411146-94411146
10 COL1A2 NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser)SNV Pathogenic/Likely pathogenic 216908 rs72659319 7:94055771-94055771 7:94426459-94426459
11 COL1A2 NM_000089.3(COL1A2):c.594+5A>TSNV Conflicting interpretations of pathogenicity 281902 rs200744314 7:94035620-94035620 7:94406308-94406308
12 COL1A2 NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His)SNV Conflicting interpretations of pathogenicity 373178 rs144797861 7:94058641-94058641 7:94429329-94429329
13 COL1A2 NM_000089.3(COL1A2):c.286A>G (p.Met96Val)SNV Uncertain significance 423747 rs763509640 7:94033874-94033874 7:94404562-94404562
14 COL1A2 NM_000089.3(COL1A2):c.52T>C (p.Cys18Arg)SNV Uncertain significance 526891 rs200278401 7:94024395-94024395 7:94395083-94395083
15 COL1A2 NM_000089.3(COL1A2):c.671G>A (p.Arg224His)SNV Uncertain significance 526896 rs771139732 7:94037526-94037526 7:94408214-94408214
16 COL1A2 NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His)SNV Uncertain significance 281098 rs377278762 7:94055784-94055784 7:94426472-94426472

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

GO Terms for Ehlers-Danlos Syndrome, Cardiac Valvular Type

Sources for Ehlers-Danlos Syndrome, Cardiac Valvular Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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