Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

cGMP-inhibited 3',5'-cyclic phosphodiesterase A

The PDE3A gene encodes an enzyme that regulates the life cycle of cyclic cGMP and cAMP in cells. Mutations cause autosomal dominant brachydactyly with hypertension.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypertension and brachydactyly syndrome
PDE3A

References:

1.

Bilginturan N et al. (1973) Hereditary brachydactyly associated with hypertension.

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2.

Maass PG et al. (2015) PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

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3.

Meacci E et al. (1992) Molecular cloning and expression of human myocardial cGMP-inhibited cAMP phosphodiesterase.

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4.

Tang KM et al. (1997) Expression and mutagenesis of the catalytic domain of cGMP-inhibited phosphodiesterase (PDE3) cloned from human platelets.

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5.

Lefièvre L et al. (2002) Presence of cyclic nucleotide phosphodiesterases PDE1A, existing as a stable complex with calmodulin, and PDE3A in human spermatozoa.

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6.

Masciarelli S et al. (2004) Cyclic nucleotide phosphodiesterase 3A-deficient mice as a model of female infertility.

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7.

NCBI article

NCBI 5139 external link
8.

OMIM.ORG article

Omim 123805 external link
9.

Orphanet article

Orphanet ID 431999 external link
10.

Wikipedia article

Wikipedia EN (Phosphodiesterase_3) external link
Update: Aug. 14, 2020
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