MCID: CRD017
MIFTS: 27

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 57 53 29 13 6
Cvd1 57 53 25 75
Xmvd 57 53 25 75
Myxomatous Valvular Dystrophy, X-Linked 57 53
X-Linked Myxomatous Valvular Dystrophy 25 75
Valvular Heart Disease, Congenital 57 53
Congenital Valvular Heart Disease 25 75
Congenital Valvular Dysplasia 59 75
Filamin-a-Associated Myxomatous Mitral Valve Disease 25
Filamin-a-Related Myxomatous Mitral Valve Dystrophy 25
Myxomatous Valvular Dystrophy, X-Linked; Xmvd 57
X-Linked Cardiac Valvular Dysplasia 25
Cardiac Valvular Dysplasia X-Linked 75
Cvdx 75

Characteristics:

Orphanet epidemiological data:

59
congenital valvular dysplasia
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 314400
Orphanet 59 ORPHA1864
ICD10 via Orphanet 34 Q24.8
MedGen 42 C0262436
MeSH 44 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 mitral valve disease and heart disease. 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, and related phenotypes are mitral valve prolapse and congestive heart failure

OMIM : 57 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 : 75 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 related to Cardiac Valvular Dysplasia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 mitral valve disease 10.2
2 heart disease 10.0

Symptoms & Phenotypes for Cardiac Valvular Dysplasia, X-Linked

Symptoms via clinical synopsis from OMIM:

57
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 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 32 HP:0001634
2 congestive heart failure 32 HP:0001635
3 mitral regurgitation 32 HP:0001653
4 aortic regurgitation 32 HP:0001659
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 tricuspid regurgitation 32 HP:0005180
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):

(showing 10, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prazosin Approved Not Applicable 19216-56-9 4893
2
Terazosin Approved Not Applicable 63590-64-7 5401
3 Adrenergic Agents Not Applicable
4 Adrenergic alpha-1 Receptor Antagonists Not Applicable
5 Adrenergic alpha-Antagonists Not Applicable
6 Adrenergic Antagonists Not Applicable
7 Neurotransmitter Agents Not Applicable
8 Antihypertensive Agents Not Applicable
9 Fibrin fragment D
10 Plasminogen Activator Inhibitor 1

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Diesel Exhaust and Vascular Function Unknown status NCT01508637 Not Applicable 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:

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

Anatomical Context for Cardiac Valvular Dysplasia, X-Linked

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

41
Heart

Publications for Cardiac Valvular Dysplasia, X-Linked

Articles related to Cardiac Valvular Dysplasia, X-Linked:

(showing 1, show less)
# Title Authors Year
1
Developmental basis for filamin-A-associated myxomatous mitral valve disease. ( 22843703 )
2012

Variations for Cardiac Valvular Dysplasia, X-Linked

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

75 (showing 3, show less)
# 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
(showing 14, show less)
# 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.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh38 Chromosome X, 154364625: 154364625
3 FLNA NM_001110556.1(FLNA): c.1910C> A (p.Pro637Gln) single nucleotide variant Pathogenic rs267606815 GRCh37 Chromosome X, 153593006: 153593006
4 FLNA NM_001110556.1(FLNA): c.1910C> A (p.Pro637Gln) single nucleotide variant Pathogenic rs267606815 GRCh38 Chromosome X, 154364638: 154364638
5 FLNA NM_001110556.1(FLNA): c.862G> A (p.Gly288Arg) single nucleotide variant Pathogenic rs267606816 GRCh37 Chromosome X, 153595771: 153595771
6 FLNA NM_001110556.1(FLNA): c.862G> A (p.Gly288Arg) single nucleotide variant Pathogenic rs267606816 GRCh38 Chromosome X, 154367403: 154367403
7 FLNA NM_001110556.1(FLNA): c.2132T> A (p.Val711Asp) single nucleotide variant Pathogenic rs267606817 GRCh37 Chromosome X, 153592631: 153592631
8 FLNA NM_001110556.1(FLNA): c.2132T> A (p.Val711Asp) single nucleotide variant Pathogenic rs267606817 GRCh38 Chromosome X, 154364263: 154364263
9 FLNA NG_011506.1: g.15883_17827del1945insTG indel Pathogenic GRCh37 Chromosome X, 153590180: 153592124
10 FLNA NG_011506.1: g.15883_17827del1945insTG indel Pathogenic GRCh38 Chromosome X, 154361812: 154363756
11 FLNA NM_001456.3(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Likely pathogenic rs797045044 GRCh37 Chromosome X, 153586596: 153586596
12 FLNA NM_001456.3(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Likely pathogenic rs797045044 GRCh38 Chromosome X, 154358228: 154358228
13 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided GRCh37 Chromosome X, 153593624: 153593624
14 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided GRCh38 Chromosome X, 154365256: 154365256

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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