Polyvalvular heart disease syndrome

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(20.4%)		 19932204
 Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cave H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E.
Eur J Med Genet. 2010;53(1):29-34.
Joint hypermobility
Adult Biopsy Child Child, Preschool Congenital Heart Defects Connective Tissue Diseases Dermatologic Surgical Procedures Ehlers-Danlos Syndrome Facies Females Homo sapiens Joint Instability Male Marfan Syndrome Skin Skin Abnormalities Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0001654 Abnormal heart valve morphology Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000678 Dental crowding Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0000951 Abnormality of the skin Occasional (29-5%)
HP:0001642 Pulmonic stenosis Occasional (29-5%)
HP:0001650 Aortic valve stenosis Occasional (29-5%)
HP:0001699 Sudden death Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001382 Joint hypermobility 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 23118
TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 23118