Patent Ductus Arteriosus 2; Pda2

Description

The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by Mani et al., 2005). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by Khetyar et al., 2008).For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Patent Ductus Arteriosus 2; Pda2

  • Patent ductus arteriosus
  • Abnormal heart morphology

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.

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.

Patent Ductus Arteriosus 2; Pda2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TFAP2B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TFAP2B
Specificity
100 %
Genes
100 %
Char syndrome (sequence analysis of TFAP2B gene).

By CGC Genetics (Portugal).

TFAP2B
Specificity
100 %
Genes
100 %
Char Syndrome via TFAP2B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TFAP2B
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH (Germany).

SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

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Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code (Spain).

BRAF, SOS1, TBX1, TBX20, TBX5, TFAP2B, TNNI3, MED12, ZIC3, ACTA2, ACTC1, CRELD1, CBL, SHOC2, GATA5, ANKRD1, SALL4, ZFPM2, TAB2, ACVR1 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
TFAP2B.

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Specificity
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Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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