PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. 30227298 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease BEFREE Since the presence of Hirschsprung disease is related to NPARMs and the number of alanine repeats, we suggest performing CCHS genetic investigation and periodical assessment also in patients without a clear history of CCHS but affected by Hirschsprung disease. 30999961 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs). 28371199 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease. 28433712 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Finally, we used this system to investigate the cellular and molecular basis for Hirschsprung's disease caused by a mutation in the gene PHOX2B. 27869805 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies: Hirschsprung disease (HSCR) or congenital central hypoventilation syndrome (CCHS). 26375764 2016
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. 26011159 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. 24651702 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE We report a CCHS case with presentation of hypoventilation during sleep and Hirschsprung disease; moreover, a genetic study of the patient confirmed the PHOX2B gene mutation as polyanaline stretch. 23597545 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO2) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. 25319843 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Therefore our results support that PHOX2B loss-of-function is a rare cause of HSCR phenotype. 23342068 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease BEFREE Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); and ALK, mostly in familial tumours. 22071890 2012
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease BEFREE The findings for HOXB5 and PHOX2B provide supportive evidence that genes regulating ENCC proliferation, migration and differentiation could be risk factors for HSCR. 22648184 2012
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease BEFREE In sum, Phox2b and Sox10 act together with Nkx2.1 to modify RET signaling and this interaction may also contribute to HSCR susceptibility. 19853745 2009
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. 19735829 2009
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease LHGDN Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. 18438890 2008
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Germline PHOX2B alterations were also recently discovered in neuroblastoma cases with CCHS and/or Hirschsprung disease, but a comprehensive survey for mutational frequency and functional consequence has not been performed. 17637745 2008
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease LHGDN Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. 17440194 2007
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Recent reports have identified the paired-like homeobox 2B (PHOX2B) gene as the major gene for CCHS and HSCR. 17270534 2007
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE We recently identified the paired-like homeobox 2B (PHOX2B, MIM 603851) gene as disease-causing in dysautonomic disorders including Congenital Central Hypoventilation Syndrome (CCHS), Hirschsprung disease (HSCR) and NB in various combinations. 17765533 2007
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE The syndromic HSCR entities studied were congenital central hypoventilation (CCHS) and Mowat-Wilson syndrome (MWS), caused by PHOX2B and ZFHX1B gene mutations, respectively. 16443855 2006
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases. 16888290 2006
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease BEFREE On the basis of this indication, we screened three Italian families with recurrence of NB and one family with occurrence of ganglioneuroblastoma and isolated Hirschsprung disease for PHOX2B defects. 15735672 2005
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Recent studies have shown that 1) PHOX2B is the main disease-causing gene for congenital central hypoventilation syndrome, an autosomal dominant disorder with incomplete penetrance; 2) PHOX2B is the first gene for which germline mutations have been demonstrated to predispose to neuroblastoma; and 3) Hirschsprung disease was associated with an intronic single-nucleotide polymorphism of the PHOX2B gene in a case-control study. 15901893 2005
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 GeneticVariation disease BEFREE Our four major findings are the extreme rarity of CCHS, the improved recognition over time, the lack of effect of HSCR on the mortality rate, and the high frequency of PHOX2B mutations. 15653965 2005