MCID: PLY088
MIFTS: 19

Polyvalvular Heart Disease Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Polyvalvular Heart Disease Syndrome

MalaCards integrated aliases for Polyvalvular Heart Disease Syndrome:

Name: Polyvalvular Heart Disease Syndrome 59
Phd Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
polyvalvular heart disease syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
polyvalvular heart disease syndrome:
Mortality/Aging sudden death


Classifications:



Summaries for Polyvalvular Heart Disease Syndrome

MalaCards based summary : Polyvalvular Heart Disease Syndrome, also known as phd syndrome, is related to heart disease. An important gene associated with Polyvalvular Heart Disease Syndrome is TAB2 (TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2). Affiliated tissues include heart and skin, and related phenotypes are low-set ears and high palate

Related Diseases for Polyvalvular Heart Disease Syndrome

Diseases related to Polyvalvular Heart Disease Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 heart disease 10.1

Symptoms & Phenotypes for Polyvalvular Heart Disease Syndrome

Human phenotypes related to Polyvalvular Heart Disease Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
5 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
10 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
11 abnormality of the pinna 59 32 frequent (33%) Frequent (79-30%) HP:0000377
12 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
15 mitral valve prolapse 59 32 hallmark (90%) Very frequent (99-80%) HP:0001634
16 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
17 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
18 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
19 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
20 abnormality of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000951
21 tricuspid regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005180
22 abnormality of the heart valves 59 Very frequent (99-80%)
23 sudden death 59 Occasional (29-5%)

Drugs & Therapeutics for Polyvalvular Heart Disease Syndrome

Search Clinical Trials , NIH Clinical Center for Polyvalvular Heart Disease Syndrome

Genetic Tests for Polyvalvular Heart Disease Syndrome

Anatomical Context for Polyvalvular Heart Disease Syndrome

MalaCards organs/tissues related to Polyvalvular Heart Disease Syndrome:

41
Heart, Skin

Publications for Polyvalvular Heart Disease Syndrome

Articles related to Polyvalvular Heart Disease Syndrome:

# Title Authors Year
1
Polyvalvular heart disease syndrome. ( 29457266 )
2018
2
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of &amp;quot;polyvalvular heart disease syndrome&amp;quot; or new association? ( 19932204 )
2010

Variations for Polyvalvular Heart Disease Syndrome

Expression for Polyvalvular Heart Disease Syndrome

Search GEO for disease gene expression data for Polyvalvular Heart Disease Syndrome.

Pathways for Polyvalvular Heart Disease Syndrome

GO Terms for Polyvalvular Heart Disease Syndrome

Sources for Polyvalvular Heart Disease Syndrome

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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