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 report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. 30473482 2019
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 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 This review highlights historical milestones and our current understanding of SCN related to mutations in HAX1. 27943080 2017
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 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 Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). 25597510 2015
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
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 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 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 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 Homozygous mutations in the HAX1 gene were described in patients with autosomal recessive SCN or Kostmann disease. 23050867 2013
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. 23206890 2013
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities. 22102707 2012
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN. 21206270 2011
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 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 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 Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. 19120359 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system. 19524642 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR 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 Biomarker phenotype BEFREE Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency. 20128427 2009