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 |
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 |
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 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.
|
24651702 |
2014 |
Hirschsprung Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
CCHS is often associated with other neurocristopathies, especially with Hirschsprung's disease (HSCR).
|
12086152 |
2002 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on germline mutations of PHOX2B in both a familial case of NB and a patient with the HSCR-NB association.
|
15024693 |
2004 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease.
|
30227298 |
2019 |
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 |
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 |
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 |
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 |
Hirschsprung Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
PMX2B, a new candidate gene for Hirschsprung's disease.
|
12919134 |
2003 |
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 |
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 |
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 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
|
28433712 |
2017 |
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 |
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 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
PMX2B, a new candidate gene for Hirschsprung's disease.
|
12919134 |
2003 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including congenital central hypoventilation syndrome (CCHS), tumours of the sympathetic nervous system and Hirschsprung disease.
|
16249188 |
2005 |
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 |
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 |
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 |
Hirschsprung Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
We studied the RET, GDNF, GFRA1, PHOX2A, PHOX2B, HASH-1, EDN1, EDN3, EDNRB, and BDNF genes in seven patients with isolated CCHS and three patients with HSCR.
|
14566559 |
2003 |
Hirschsprung Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe an infant who had congenital central hypoventilation syndrome with Hirschsprung's disease and was delivered at 26 weeks' gestational age and had total aganglionosis of the bowel, failure to wean from ventilation, and a mutation in the PHOX2B gene.
|
15930201 |
2005 |