MCID: CRD017
MIFTS: 29

Cardiac Valvular Dysplasia, X-Linked

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

Aliases & Classifications for Cardiac Valvular Dysplasia, X-Linked

MalaCards integrated aliases for Cardiac Valvular Dysplasia, X-Linked:

Name: Cardiac Valvular Dysplasia, X-Linked 54 50 29 13
Cvd1 50 25 71
Xmvd 50 25 71
X-Linked Myxomatous Valvular Dystrophy 25 71
Congenital Valvular Heart Disease 25 71
Congenital Valvular Dysplasia 56 71
Filamin-a-Associated Myxomatous Mitral Valve Disease 25
Filamin-a-Related Myxomatous Mitral Valve Dystrophy 25
Myxomatous Valvular Dystrophy, X-Linked 50
X-Linked Cardiac Valvular Dysplasia 25
Cardiac Valvular Dysplasia X-Linked 71
Valvular Heart Disease, Congenital 50
Cvdx 71

Characteristics:

Orphanet epidemiological data:

56
congenital valvular dysplasia
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

54
Inheritance:
x-linked recessive


HPO:

32
cardiac valvular dysplasia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 314400
Orphanet 56 ORPHA1864
ICD10 via Orphanet 34 Q24.8
MedGen 40 C0262436
MeSH 42 D006349

Summaries for Cardiac Valvular Dysplasia, X-Linked

Genetics Home Reference : 25 X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. The normal heart has four valves, two on the left side of the heart and two on the right side, that allow blood to move through the heart and prevent blood from flowing backward. In X-linked cardiac valvular dysplasia, one or more of the four heart valves is thickened and cannot open and close completely when the heart beats and pumps blood. These malformed valves can cause abnormal blood flow and an irregular heart sound during a heartbeat (heart murmur).

MalaCards based summary : Cardiac Valvular Dysplasia, X-Linked, also known as cvd1, is related to flna-related x-linked cardiac valvular dysplasia and mitral valve disease, and has symptoms including congestive heart failure, mitral valve prolapse and tricuspid regurgitation. An important gene associated with Cardiac Valvular Dysplasia, X-Linked is FLNA (Filamin A). The drugs Prazosin and Terazosin have been mentioned in the context of this disorder. Affiliated tissues include heart.

OMIM : 54
X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse. (314400)

UniProtKB/Swiss-Prot : 71 Cardiac valvular dysplasia X-linked: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets.

Related Diseases for Cardiac Valvular Dysplasia, X-Linked

Diseases in the Cardiac Valvular Dysplasia, X-Linked family:

Flna-Related X-Linked Cardiac Valvular Dysplasia

Diseases related to Cardiac Valvular Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 flna-related x-linked cardiac valvular dysplasia 12.2
2 mitral valve disease 10.1

Symptoms & Phenotypes for Cardiac Valvular Dysplasia, X-Linked

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
congenital heart defect
mitral regurgitation
aortic regurgitation
tricuspid regurgitation
mitral valve prolapse
more
Lab:
myxomatous cardiac valvular degeneration with secondary calcification


Clinical features from OMIM:

314400

Human phenotypes related to Cardiac Valvular Dysplasia, X-Linked:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 mitral valve prolapse 32 HP:0001634
3 tricuspid regurgitation 32 HP:0005180
4 aortic regurgitation 32 HP:0001659
5 mitral regurgitation 32 HP:0001653
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 short chordae tendineae of the tricuspid valve 32 HP:0006692
8 short chordae tendineae of the mitral valve 32 HP:0011580

Drugs & Therapeutics for Cardiac Valvular Dysplasia, X-Linked

Drugs for Cardiac Valvular Dysplasia, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prazosin Approved 19216-56-9 4893
2
Terazosin Approved 63590-64-7 5401
3 Adrenergic Agents
4 Adrenergic alpha-1 Receptor Antagonists
5 Adrenergic alpha-Antagonists
6 Adrenergic Antagonists
7 Antihypertensive Agents
8 Neurotransmitter Agents
9 Fibrin fragment D
10 Plasminogen Activator Inhibitor 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Diesel Exhaust and Vascular Function Unknown status NCT01508637 Terazosin;placebo
2 Association Between Levels of D-Dimer, Fibrinogen and PAI-1 in Elderly Patients With Infection and Occurrence of Cardio- and Cerebro-vascular Disease After Discharge Completed NCT00512603

Search NIH Clinical Center for Cardiac Valvular Dysplasia, X-Linked

Genetic Tests for Cardiac Valvular Dysplasia, X-Linked

Genetic tests related to Cardiac Valvular Dysplasia, X-Linked:

id Genetic test Affiliating Genes
1 Cardiac Valvular Dysplasia, X-Linked 29

Anatomical Context for Cardiac Valvular Dysplasia, X-Linked

MalaCards organs/tissues related to Cardiac Valvular Dysplasia, X-Linked:

39
Heart

Publications for Cardiac Valvular Dysplasia, X-Linked

Variations for Cardiac Valvular Dysplasia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Valvular Dysplasia, X-Linked:

71
id Symbol AA change Variation ID SNP ID
1 FLNA p.Gly288Arg VAR_064156 rs267606816
2 FLNA p.Pro637Gln VAR_064157 rs267606815
3 FLNA p.Val711Asp VAR_064158 rs267606817

ClinVar genetic disease variations for Cardiac Valvular Dysplasia, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh37 Chromosome X, 153592993: 153592993
2 FLNA NM_001110556.1(FLNA): c.1910C> A (p.Pro637Gln) single nucleotide variant Pathogenic rs267606815 GRCh37 Chromosome X, 153593006: 153593006
3 FLNA NM_001110556.1(FLNA): c.862G> A (p.Gly288Arg) single nucleotide variant Pathogenic rs267606816 GRCh37 Chromosome X, 153595771: 153595771
4 FLNA NM_001110556.1(FLNA): c.2132T> A (p.Val711Asp) single nucleotide variant Pathogenic rs267606817 GRCh37 Chromosome X, 153592631: 153592631
5 FLNA NG_011506.1: g.15883_17827del1945insTG indel Pathogenic GRCh37 Chromosome X, 153590180: 153592124
6 FLNA NM_001456.3(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Likely pathogenic rs797045044 GRCh37 Chromosome X, 153586596: 153586596

Expression for Cardiac Valvular Dysplasia, X-Linked

Search GEO for disease gene expression data for Cardiac Valvular Dysplasia, X-Linked.

Pathways for Cardiac Valvular Dysplasia, X-Linked

GO Terms for Cardiac Valvular Dysplasia, X-Linked

Sources for Cardiac Valvular Dysplasia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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