CVDX
MCID: CRD017
MIFTS: 28

Cardiac Valvular Dysplasia, X-Linked (CVDX)

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

Aliases & Classifications for Cardiac Valvular Dysplasia, X-Linked

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

Name: Cardiac Valvular Dysplasia, X-Linked 58 54 30 13 6
Cvd1 58 54 26 76
Xmvd 58 54 26 76
Myxomatous Valvular Dystrophy, X-Linked 58 54
X-Linked Myxomatous Valvular Dystrophy 26 76
X-Linked Cardiac Valvular Dysplasia 26 38
Valvular Heart Disease, Congenital 58 54
Congenital Valvular Heart Disease 26 76
Congenital Valvular Dysplasia 60 76
Filamin-a-Associated Myxomatous Mitral Valve Disease 26
Filamin-a-Related Myxomatous Mitral Valve Dystrophy 26
Myxomatous Valvular Dystrophy, X-Linked; Xmvd 58
Cardiac Valvular Dysplasia X-Linked 76
Cvdx 76

Characteristics:

Orphanet epidemiological data:

60
congenital valvular dysplasia
Inheritance: Not applicable; Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
cardiac valvular dysplasia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 314400
KEGG 38 H02230
MeSH 45 D006349
ICD10 via Orphanet 35 Q24.8
Orphanet 60 ORPHA1864
MedGen 43 C0262436

Summaries for Cardiac Valvular Dysplasia, X-Linked

Genetics Home Reference : 26 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 valve disease. An important gene associated with Cardiac Valvular Dysplasia, X-Linked is FLNA (Filamin A). The drugs Plasminogen Activator Inhibitor 1 and Fibrin fragment D have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are abnormality of metabolism/homeostasis and congestive heart failure

OMIM : 58 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 mitral valve disease 10.4
2 heart valve disease 10.2
3 heart disease 10.2

Symptoms & Phenotypes for Cardiac Valvular Dysplasia, X-Linked

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 congestive heart failure 33 HP:0001635
3 mitral valve prolapse 33 HP:0001634
4 mitral regurgitation 33 HP:0001653
5 tricuspid regurgitation 33 HP:0005180
6 aortic regurgitation 33 HP:0001659
7 short chordae tendineae of the tricuspid valve 33 HP:0006692
8 short chordae tendineae of the mitral valve 33 HP:0011580

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
congestive heart failure
mitral valve prolapse
mitral regurgitation
tricuspid regurgitation
aortic regurgitation
more
Lab:
myxomatous cardiac valvular degeneration with secondary calcification

Clinical features from OMIM:

314400

Drugs & Therapeutics for Cardiac Valvular Dysplasia, X-Linked

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Plasminogen Activator Inhibitor 1
2 Fibrin fragment D
3 Insulin, Globin Zinc
4 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Sleep, Glycemic Control, and Insulin Resistance in Adolescents With Type 1 Diabetes Not yet recruiting NCT03832790

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 30 FLNA

Anatomical Context for Cardiac Valvular Dysplasia, X-Linked

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

42
Heart

Publications for Cardiac Valvular Dysplasia, X-Linked

Articles related to Cardiac Valvular Dysplasia, X-Linked:

# Title Authors Year
1
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. ( 17190868 )
2007
2
Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. ( 9497244 )
1998
3
Sex linked valvular dysplasia. ( 8230166 )
1993

Variations for Cardiac Valvular Dysplasia, X-Linked

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

76
# 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 (show all 44)
# 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_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh37 Chromosome X, 153588840: 153588840
12 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh38 Chromosome X, 154360472: 154360472
13 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
14 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
15 FLNA NM_001456.3(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Likely pathogenic rs797045044 GRCh37 Chromosome X, 153586596: 153586596
16 FLNA NM_001456.3(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Likely pathogenic rs797045044 GRCh38 Chromosome X, 154358228: 154358228
17 FLNA NM_001456.3(FLNA): c.6695A> G (p.Lys2232Arg) single nucleotide variant Uncertain significance rs797045581 GRCh38 Chromosome X, 154352231: 154352231
18 FLNA NM_001456.3(FLNA): c.6695A> G (p.Lys2232Arg) single nucleotide variant Uncertain significance rs797045581 GRCh37 Chromosome X, 153580599: 153580599
19 FLNA NM_001456.3(FLNA): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs782447567 GRCh37 Chromosome X, 153596263: 153596263
20 FLNA NM_001456.3(FLNA): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs782447567 GRCh38 Chromosome X, 154367895: 154367895
21 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh37 Chromosome X, 153577858: 153577858
22 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh38 Chromosome X, 154349490: 154349490
23 FLNA NM_001456.3(FLNA): c.2254G> A (p.Val752Ile) single nucleotide variant Uncertain significance rs1297013254 GRCh37 Chromosome X, 153592416: 153592416
24 FLNA NM_001456.3(FLNA): c.2254G> A (p.Val752Ile) single nucleotide variant Uncertain significance rs1297013254 GRCh38 Chromosome X, 154364048: 154364048
25 FLNA NM_001456.3(FLNA): c.6701G> A (p.Arg2234Gln) single nucleotide variant Uncertain significance rs781984274 GRCh37 Chromosome X, 153580593: 153580593
26 FLNA NM_001456.3(FLNA): c.6701G> A (p.Arg2234Gln) single nucleotide variant Uncertain significance rs781984274 GRCh38 Chromosome X, 154352225: 154352225
27 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided rs1557178957 GRCh37 Chromosome X, 153593624: 153593624
28 FLNA NM_001110556.1(FLNA): c.1571G> A (p.Gly524Glu) single nucleotide variant not provided rs1557178957 GRCh38 Chromosome X, 154365256: 154365256
29 FLNA NM_001456.3(FLNA): c.6839G> A (p.Arg2280His) single nucleotide variant Uncertain significance rs782275601 GRCh38 Chromosome X, 154351928: 154351928
30 FLNA NM_001456.3(FLNA): c.6839G> A (p.Arg2280His) single nucleotide variant Uncertain significance rs782275601 GRCh37 Chromosome X, 153580296: 153580296
31 FLNA NM_001456.3(FLNA): c.6352C> T (p.Pro2118Ser) single nucleotide variant Uncertain significance rs782400832 GRCh37 Chromosome X, 153581143: 153581143
32 FLNA NM_001456.3(FLNA): c.6352C> T (p.Pro2118Ser) single nucleotide variant Uncertain significance rs782400832 GRCh38 Chromosome X, 154352775: 154352775
33 FLNA NM_001456.3(FLNA): c.546G> C (p.Gln182His) single nucleotide variant Uncertain significance rs1557179648 GRCh37 Chromosome X, 153596286: 153596286
34 FLNA NM_001456.3(FLNA): c.546G> C (p.Gln182His) single nucleotide variant Uncertain significance rs1557179648 GRCh38 Chromosome X, 154367918: 154367918
35 FLNA NM_001456.3(FLNA): c.2974A> G (p.Thr992Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154361541: 154361541
36 FLNA NM_001456.3(FLNA): c.2974A> G (p.Thr992Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153589909: 153589909
37 FLNA NM_001110556.2(FLNA): c.4314C> G (p.Phe1438Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153587512: 153587512
38 FLNA NM_001110556.2(FLNA): c.4314C> G (p.Phe1438Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154359144: 154359144
39 FLNA NM_001110556.2(FLNA): c.2364G> A (p.Glu788=) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153591069: 153591069
40 FLNA NM_001110556.2(FLNA): c.2364G> A (p.Glu788=) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154362701: 154362701
41 FLNA NM_001110556.2(FLNA): c.1204A> G (p.Thr402Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153594700: 153594700
42 FLNA NM_001110556.2(FLNA): c.1204A> G (p.Thr402Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154366332: 154366332
43 FLNA NM_001110556.2(FLNA): c.494A> G (p.Lys165Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153596338: 153596338
44 FLNA NM_001110556.2(FLNA): c.494A> G (p.Lys165Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154367970: 154367970

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....