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 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 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 Biomarker phenotype GENOMICS_ENGLAND After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann. 17187068 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 18024606 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GermlineCausalMutation phenotype ORPHANET After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann. 17187068 2007
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 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 BEFREE The role of HAX-1 protein as a regulatory step in apoptosis provides further evidence for severe congenital neutropenia as a disorder of programmed cell death. 18043240 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 17187068 2007
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 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 GeneticVariation phenotype BEFREE Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. 18513342 2008
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 Biomarker phenotype GENOMICS_ENGLAND 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 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 Biomarker phenotype BEFREE Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency. 20128427 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype UNIPROT 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 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 Biomarker phenotype GENOMICS_ENGLAND The genes implicated in SCN (ELA2, HAX1, Gfi-1, WAS, and P14) were analysed in 18 Japanese patients with SCN. 18611981 2008
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 Biomarker phenotype BEFREE Recently, the identification of several novel genetic defects (e.g., p14-deficiency, HAX1-deficiency, AK2-deficiency) has shed light on the pathophysiology of congenital neutropenia. 19811314 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. 19123440 2008
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 UNIPROT After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann. 17187068 2007