Polyvalvular Heart Disease Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Polyvalvular Heart Disease Syndrome

TAB2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Polyvalvular Heart Disease Syndrome

Intellectual disability
Short stature
Micrognathia
Ptosis
Low-set ears
High palate
Arrhythmia
Delayed skeletal maturation
Abnormality of the pinna
Short philtrum

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Polyvalvular Heart Disease Syndrome Is also known as phd syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Polyvalvular Heart Disease Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...) View the complete list with 45 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Congenital heart defects, nonsyndromic 2 (sequence analysis of TAB2 gene). By CGC Genetics (Portugal). TAB2 Specificity 100 % Genes 100 %
Congenital heart disease Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2 Specificity 7 % Genes 100 %
Congenital heart disease Comprehensive panel. By Connective Tissue Gene Tests (United States). TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2 Specificity 7 % Genes 100 %
Congenital heart disease NGS panel. By Connective Tissue Gene Tests (United States). TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2 Specificity 7 % Genes 100 %
Frontometaphyseal dysplasia Comprehensive panel. By Connective Tissue Gene Tests (United States). TAB2, FLNA, MAP3K7 Specificity 34 % Genes 100 %
Frontometaphyseal dysplasia NGS panel. By Connective Tissue Gene Tests (United States). TAB2, FLNA, MAP3K7 Specificity 34 % Genes 100 %
Frontometaphyseal dysplasia Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). TAB2, FLNA, MAP3K7 Specificity 34 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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