HAX1 gene related symptoms and diseases

All the information presented here about the HAX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HAX1 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases
Tonsillitis Uncommon - Between 30% and 50% cases
Monocytosis Uncommon - Between 30% and 50% cases
Congenital neutropenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HAX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Granulocytopenia
  • Acute lymphoblastic leukemia
  • Thrombocytosis
  • Acute myeloid leukemia
  • Myeloid leukemia
  • Increased antibody level in blood
  • Myelodysplasia
  • Eosinophilia

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HAX1 gene

Here you will find a list of rare diseases related to the HAX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KOSTMANN SYNDROME


Alternate names

KOSTMANN SYNDROME Is also known as infantile agranulocytosis, severe congenital neutropenia type 3

Description

Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.


More info about KOSTMANN SYNDROME

SOURCES: ORPHANET

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Alternate names

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile, kostmann disease

Description

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

Most common symptoms of NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

SOURCES: ORPHANET OMIM


Potential gene panels for HAX1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

HAX1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the HAX1 gene.

More info about this panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24

More info about this panel

Inherited Neutropenia panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3

More info about this panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Inherited Neutropenia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4

More info about this panel

HAX1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the HAX1 gene.

More info about this panel

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Severe Congenital Neutropenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Severe Congenital Neutropenia Sequencing Panel that also includes the following genes: WAS VPS45 HAX1 CSF3R G6PC3 CXCR4 ELANE GFI1

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

HAX1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HAX1 gene.

More info about this panel

HAX1 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the HAX1 gene.

More info about this panel

HAX1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HAX1 gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Severe congenital neutropenia 3 (Kostmann disease, sequence analysis of HAX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HAX1 gene.

More info about this panel

Severe congenital neutropenia (NGS panel for 7 genes) Panel

Portugal.

By CGC Genetics Severe congenital neutropenia (NGS panel for 7 genes) that also includes the following genes: WAS VPS45 HAX1 G6PC3 JAGN1 ELANE GFI1

More info about this panel

Hereditary neutropenia (NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3

More info about this panel

Severe Congenital Neutropenia (Kostmann Disease) via HAX1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HAX1 gene.

More info about this panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Severe Congenital Neutropenia Sequential Panel Panel

United States.

By FirmaLab Severe Congenital Neutropenia Sequential Panel that also includes the following genes: WAS HAX1 G6PC3 ELANE GFI1

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

Neutropenia, severe congenital type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HAX1 gene.

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Single gene testing HAX1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HAX1 gene.

More info about this panel

HAX1 Sequence Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the HAX1 gene.

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

Neutropenia, Severe congenital type 3 (SCN3): HAX1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HAX1 gene.

More info about this panel

Neutropenia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neutropenia that also includes the following genes: WAS VPS45 HAX1 CSF3R G6PC3 JAGN1 ELANE GFI1 RAC2

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Severe Congenital Neutropenia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Severe Congenital Neutropenia NGS Panel that also includes the following genes: WAS HAX1 G6PC3 ELANE GFI1

More info about this panel

HAX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HAX1 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel

Kostmann syndrome Panel

Spain.

By Bioarray

This panel specifically test the HAX1 gene.

More info about this panel

Severe congenital neutropenia type 3 Panel

Spain.

By Bioarray

This panel specifically test the HAX1 gene.

More info about this panel

Severe Congenital Neutropenia Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B

More info about this panel

Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel that also includes the following genes: WAS HAX1 CSF3R G6PC3 ELANE GFI1

More info about this panel

HAX1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the HAX1 gene.

More info about this panel

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: VPS45 HAX1 CSF3R G6PC3 JAGN1

More info about this panel

NEUTROPENIA CONGENITAL: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEUTROPENIA CONGENITAL: NGS PANEL that also includes the following genes: WAS VPS45 HAX1 SBDS CSF3R G6PC3 CXCR4 JAGN1 ELANE GFI1

More info about this panel

Severe Congenital Neutropenia Type 3 , Sequencing HAX1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HAX1 gene.

More info about this panel

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel

Spain.

By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

More info about this panel

Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TAZ WAS HAX1 CSF3R G6PC3 LAMTOR2 ELANE GFI1 RAC2

More info about this panel

Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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