MCID: PLY088
MIFTS: 18

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 high palate and dolichocephaly

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 10.0

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

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
Content
Loading form....