CXCR4 gene related symptoms and diseases

All the information presented here about the CXCR4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CXCR4 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Atelectasis Very Common - Between 80% and 100% cases
Combined immunodeficiency Very Common - Between 80% and 100% cases
Osteomyelitis Very Common - Between 80% and 100% cases
Cellulitis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CXCR4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • IgG deficiency
  • Periodontitis
  • B-cell lymphoma
  • Verrucae
  • Abnormality of female internal genitalia
  • Recurrent upper respiratory tract infections
  • Abnormality of female external genitalia
  • Abnormality of bone marrow cell morphology

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CXCR4 gene

Here you will find a list of rare diseases related to the CXCR4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WHIM SYNDROME

Alternate names

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, warts-infections-leukopenia-myelokatexis syndrome, wilm, warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Description

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

Most common symptoms of WHIM SYNDROME

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


More info about WHIM SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for CXCR4 gene

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
United States.

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
United States.

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
United States.

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
United States.

CXCR4 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 CXCR4 gene.

More info about this panel
United States.

CXCR4 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 CXCR4 gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

Humoral dysfunction Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel
United States.

Humoral dysfunction Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel
United States.

Humoral dysfunction Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel
United States.

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
Portugal.

WHIM syndrome (sequence analysis of CXCR4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CXCR4 gene.

More info about this panel
Portugal.

WHIM syndrome (sequence analysis of CXCR4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CXCR4 gene.

More info about this panel
Portugal.

Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CXCR4 gene.

More info about this panel
United States.

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
United States.

CXCR4 Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the CXCR4 gene.

More info about this panel
United States.

WHIM syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CXCR4 gene.

More info about this panel
Germany.

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
Germany.

Defects in innate immunity Panel Panel

Germany.

By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4

More info about this panel
Germany.

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
United States.

Invitae Epidermodysplasia Verruciformis Panel Panel

United States.

By Invitae Invitae Epidermodysplasia Verruciformis Panel that also includes the following genes: TMC6 TMC8 CXCR4 RHOH

More info about this panel
United States.

CXCR4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CXCR4 gene.

More info about this panel
United States.

Fanconi Anemia Panel Panel

Finland.

By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2

More info about this panel
Finland.

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
Finland.

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
Finland.

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
Finland.

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
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

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
Spain.

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA

More info about this panel
Spain.

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
Spain.

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
Spain.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

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