MCID: PLY088
MIFTS: 17

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 58
Phd Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
polyvalvular heart disease syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Polyvalvular Heart Disease Syndrome

MalaCards based summary : Polyvalvular Heart Disease Syndrome, also known as phd syndrome, is related to heart disease and marfan syndrome. 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 related phenotypes are delayed skeletal maturation and short stature

Related Diseases for Polyvalvular Heart Disease Syndrome

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

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 heart disease 10.2
2 marfan syndrome 10.1
3 ehlers-danlos syndrome 10.1
4 hypermobile ehlers-danlos syndrome 10.1

Symptoms & Phenotypes for Polyvalvular Heart Disease Syndrome

Human phenotypes related to Polyvalvular Heart Disease Syndrome:

58 31 (showing 23, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
8 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
9 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
10 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
11 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
12 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
13 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
14 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
15 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
16 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
17 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
18 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
19 abnormality of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000951
20 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
21 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
22 sudden death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001699
23 abnormal heart valve morphology 58 Very frequent (99-80%)

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:

40
Heart

Publications for Polyvalvular Heart Disease Syndrome

Articles related to Polyvalvular Heart Disease Syndrome:

(showing 2, show less)
# Title Authors PMID Year
1
Polyvalvular heart disease syndrome. 61
29457266 2018
2
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association? 61
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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....