HAX1, HCLS1 associated protein X-1, 10456

N. diseases: 59; N. variants: 9
Disease: Severe congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. 18055975 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. 20065084 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin. 20182745 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations. 24482108 2014
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 19036076 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE The HCLS1-associated protein X1 (HAX1) mutation is associated with an autosomal-recessive form of SCN. 30698159 2018
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. 18337561 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE ELANE mutations correlated with more severe periodontal status than the HAX1 or unknown mutations in patients with SCN. 21796505 2011
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE It is now well-established that mutations in HAX1 and ELANE (and more rarely in other genes) are the genetic cause of SCN. 26637693 2015
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Recently, homozygous mutations in the antiapoptotic gene HAX1 were found in patients with autosomal recessive severe congenital neutropenia. 17917547 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. 19499579 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry. 31321910 2019
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype CTD_human
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype UNIPROT A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). 19796188 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). 28681255 2017
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE We sought to determine the relationship between HAX1 gene mutations and the clinical characteristics of Japanese cases of SCN. 18611981 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. 23975175 2014
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. 19775295 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. 18337561 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR Digenic mutations in severe congenital neutropenia. 20220065 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype UNIPROT Digenic mutations in severe congenital neutropenia. 20220065 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE The recent findings include identification of mutations in HAX1 in autosomal recessive severe congenital neutropenia (Kostmann disease), a large epidemiological study estimating the risk of progression from severe congenital neutropenia to leukemia, a better understanding of how heterozygous mutations in neutrophil elastase (ELA2) cause severe congenital neutropenia, molecular characterization of a novel syndromic form of severe congenital neutropenia called p14 deficiency and new animal models for several syndromic forms of severe congenital neutropenia. 17989524 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations. 26994629 2016
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1. 18330843 2007