PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 GeneticVariation disease BEFREE Our results provide new information concerning the mechanism whereby the mutations identified in the ACRDYS2 dysregulate PDE4D activity, and give insights into rare diseases involving the cAMP signaling pathway. 29016851 2017
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 GeneticVariation disease UNIPROT Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 23033274 2013
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 GeneticVariation disease UNIPROT Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252 2012
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 GeneticVariation disease UNIPROT Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 22464250 2012
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 GeneticVariation disease UNIPROT PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 23043190 2012
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 Biomarker disease GENOMICS_ENGLAND
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 Biomarker disease GENOMICS_ENGLAND
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 CausalMutation disease CLINVAR
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
0.710 Biomarker disease CTD_human
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Our study identified a novel de novo PDE4D mutation in acrodysostosis of Chinese origin that not only contributes a deeper appreciation of the phenotypic characteristics of patients with PDE4D mutations but also expands the spectrum of PDE4D mutations. 31520578 2019
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE We and others have identified PDE4D or PRKAR1A variants in acrodysostosis; PDE4D variants have been reported in three cases of acroscyphodysplasia. 30006632 2018
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsα mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPPSD4, PDE4D mutations (acrodysostosis type 2) as iPPSD5 and PDE3A mutations (autosomal dominant hypertension with brachydactyly) as iPPSD6. iPPSDx is reserved for unknown molecular defects and iPPSDn+1 for new molecular defects which are yet to be described. 29280743 2017
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. 29016851 2017
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. 28515031 2017
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Moreover, mutations in PRKAR1A and PDE4D genes have been recently detected in patients with acrodysostosis (ACRDYS), showing a skeletal and endocrinological phenotype partially overlapping with AHO/PHP. 26763073 2016
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis. 27109785 2016
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 Biomarker disease BEFREE The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis. 25075981 2014
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 Biomarker disease BEFREE Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. 25064455 2014
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE In addition, our results expand the spectrum of PDE4D mutations underlying acrodysostosis and indicate that, in contrast to previous reports, patients with PDE4D mutations may have significant hormone resistance with consequent endocrine abnormalities. 24203977 2014
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho-deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the PDE4D gene. 25044890 2014
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 Biomarker disease BEFREE PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities. 23033274 2013
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GermlineCausalMutation disease ORPHANET Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252 2012
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252 2012
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GermlineCausalMutation disease ORPHANET Screening of PDE4D identified heterozygous mutations (c.568T>G [p.Ser190Ala] and c.1759A>C [p.Thr587Pro]) in two additional acrodysostosis cases. 22464250 2012
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis
0.700 GeneticVariation disease BEFREE Screening of PDE4D identified heterozygous mutations (c.568T>G [p.Ser190Ala] and c.1759A>C [p.Thr587Pro]) in two additional acrodysostosis cases. 22464250 2012