MCID: FML264
MIFTS: 32

Familial Bicuspid Aortic Valve

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

Aliases & Classifications for Familial Bicuspid Aortic Valve

Summaries for Familial Bicuspid Aortic Valve

MalaCards based summary : Familial Bicuspid Aortic Valve, also known as familial bav, is related to ventricular fibrillation, paroxysmal familial, 1 and cardiomyopathy, dilated, 1e. An important gene associated with Familial Bicuspid Aortic Valve is DSP (Desmoplakin), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. Affiliated tissues include heart, and related phenotypes are bicuspid aortic valve and aortic valve stenosis

Related Diseases for Familial Bicuspid Aortic Valve

Graphical network of the top 20 diseases related to Familial Bicuspid Aortic Valve:



Diseases related to Familial Bicuspid Aortic Valve

Symptoms & Phenotypes for Familial Bicuspid Aortic Valve

Human phenotypes related to Familial Bicuspid Aortic Valve:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bicuspid aortic valve 59 32 obligate (100%) Obligate (100%) HP:0001647
2 aortic valve stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001650
3 aortic regurgitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001659
4 coarctation of aorta 59 32 hallmark (90%) Very frequent (99-80%) HP:0001680
5 aortic valve calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004380
6 thoracic aorta calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004962
7 heart murmur 59 32 hallmark (90%) Very frequent (99-80%) HP:0030148
8 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
9 hypoplastic left heart 59 32 very rare (1%) Very rare (<4-1%) HP:0004383
10 ascending aortic dissection 59 32 very rare (1%) Very rare (<4-1%) HP:0004933
11 abnormality of the left ventricular outflow tract 59 32 very rare (1%) Very rare (<4-1%) HP:0011103
12 dilatation of the aortic arch 59 Frequent (79-30%)
13 aortic arch aneurysm 32 frequent (33%) HP:0005113

MGI Mouse Phenotypes related to Familial Bicuspid Aortic Valve:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 DSP GATA5 NKX2-5 NOTCH1 SMAD6
2 digestive/alimentary MP:0005381 9.56 GATA5 NKX2-5 NOTCH1 DSP
3 integument MP:0010771 9.46 DSP GATA5 NKX2-5 NOTCH1
4 mortality/aging MP:0010768 9.35 DSP GATA5 NKX2-5 NOTCH1 SMAD6
5 muscle MP:0005369 9.02 DSP GATA5 NKX2-5 NOTCH1 SMAD6

Drugs & Therapeutics for Familial Bicuspid Aortic Valve

Search Clinical Trials , NIH Clinical Center for Familial Bicuspid Aortic Valve

Genetic Tests for Familial Bicuspid Aortic Valve

Anatomical Context for Familial Bicuspid Aortic Valve

MalaCards organs/tissues related to Familial Bicuspid Aortic Valve:

41
Heart

Publications for Familial Bicuspid Aortic Valve

Articles related to Familial Bicuspid Aortic Valve:

# Title Authors Year
1
Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve. ( 28948327 )
2017
2
Whole exome sequencing for familial bicuspid aortic valve identifies putative variants. ( 25085919 )
2014
3
Evidence of genetic locus heterogeneity for familial bicuspid aortic valve. ( 17716607 )
2007

Variations for Familial Bicuspid Aortic Valve

ClinVar genetic disease variations for Familial Bicuspid Aortic Valve:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A10 NM_030777.3(SLC2A10): c.929C> T (p.Ser310Phe) single nucleotide variant Uncertain significance rs763521707 GRCh37 Chromosome 20, 45354604: 45354604
2 SLC2A10 NM_030777.3(SLC2A10): c.929C> T (p.Ser310Phe) single nucleotide variant Uncertain significance rs763521707 GRCh38 Chromosome 20, 46725965: 46725965
3 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
4 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh37 Chromosome 6, 149700090: 149700090
5 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh38 Chromosome 6, 149378954: 149378954
6 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
7 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
8 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh37 Chromosome 18, 28911750: 28911750
9 DSG1 NM_001942.3(DSG1): c.604G> T (p.Glu202Ter) single nucleotide variant Likely pathogenic rs1057518788 GRCh38 Chromosome 18, 31331787: 31331787
10 MYH11 NM_001040113.1(MYH11): c.3581C> T (p.Thr1194Met) single nucleotide variant Uncertain significance rs552818350 GRCh37 Chromosome 16, 15826512: 15826512
11 MYH11 NM_001040113.1(MYH11): c.3581C> T (p.Thr1194Met) single nucleotide variant Uncertain significance rs552818350 GRCh38 Chromosome 16, 15732655: 15732655
12 NOTCH1 NM_017617.4(NOTCH1): c.5215G> A (p.Val1739Met) single nucleotide variant Uncertain significance rs377294245 GRCh38 Chromosome 9, 136502441: 136502441
13 NOTCH1 NM_017617.4(NOTCH1): c.5215G> A (p.Val1739Met) single nucleotide variant Uncertain significance rs377294245 GRCh37 Chromosome 9, 139396893: 139396893

Expression for Familial Bicuspid Aortic Valve

Search GEO for disease gene expression data for Familial Bicuspid Aortic Valve.

Pathways for Familial Bicuspid Aortic Valve

Pathways related to Familial Bicuspid Aortic Valve according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.28 NKX2-5 NOTCH1
2 10.68 NKX2-5 NOTCH1
3 10.29 NKX2-5 NOTCH1

GO Terms for Familial Bicuspid Aortic Valve

Cellular components related to Familial Bicuspid Aortic Valve according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 GATA5 NKX2-5 SMAD6

Biological processes related to Familial Bicuspid Aortic Valve according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.74 GATA5 NKX2-5 NOTCH1
2 heart development GO:0007507 9.63 GATA5 NKX2-5 NOTCH1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.58 NKX2-5 NOTCH1
4 epidermis development GO:0008544 9.58 DSP NOTCH1
5 BMP signaling pathway GO:0030509 9.56 NKX2-5 SMAD6
6 keratinocyte differentiation GO:0030216 9.55 DSP NOTCH1
7 cell fate commitment GO:0045165 9.54 GATA5 NOTCH1
8 heart looping GO:0001947 9.52 NKX2-5 NOTCH1
9 negative regulation of BMP signaling pathway GO:0030514 9.51 NOTCH1 SMAD6
10 ventricular septum morphogenesis GO:0060412 9.49 NKX2-5 NOTCH1
11 outflow tract septum morphogenesis GO:0003148 9.48 NKX2-5 SMAD6
12 negative regulation of ossification GO:0030279 9.43 NOTCH1 SMAD6
13 negative regulation of myotube differentiation GO:0010832 9.4 NKX2-5 NOTCH1
14 cardiac muscle tissue morphogenesis GO:0055008 9.37 NKX2-5 NOTCH1
15 ventricular trabecula myocardium morphogenesis GO:0003222 9.32 NKX2-5 NOTCH1
16 cardiac muscle cell proliferation GO:0060038 9.26 NKX2-5 NOTCH1
17 pulmonary valve morphogenesis GO:0003184 9.16 NOTCH1 SMAD6
18 cardiac ventricle morphogenesis GO:0003208 8.96 NKX2-5 NOTCH1
19 atrioventricular node development GO:0003162 8.62 NKX2-5 NOTCH1

Molecular functions related to Familial Bicuspid Aortic Valve according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.56 GATA5 NKX2-5 NOTCH1 SMAD6
2 sequence-specific DNA binding GO:0043565 9.54 GATA5 NKX2-5 NOTCH1
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.4 GATA5 NKX2-5
4 transcription regulatory region DNA binding GO:0044212 9.33 GATA5 NKX2-5 SMAD6
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.32 GATA5 NKX2-5
6 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 8.96 NKX2-5 NOTCH1
7 chromatin binding GO:0003682 8.92 GATA5 NKX2-5 NOTCH1 SMAD6

Sources for Familial Bicuspid Aortic Valve

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
Content
Loading form....