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PDE4D

Synonyms
ACRDYS2, DPDE3, HSPDE4D, PDE43, PDE4DN2, STRK1
External resources
Summary
This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
5
Likely pathogenic
1
VUS
2,482
Likely benign
7,748
Benign
136

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on PDE4D gene are displayed below. The following symptoms were found in patients with a variant in PDE4D. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
50%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood forming tissues
16.7%
Abnormality of the ear
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the nervous system
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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