XK gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to XK gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Motor axonal neuropathy Very Common - Between 80% and 100% cases
Generalized-onset seizure Very Common - Between 80% and 100% cases
Atrial fibrillation Very Common - Between 80% and 100% cases
Personality disorder Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Dilated cardiomyopathy
  • Anxiety
  • Hepatosplenomegaly
  • Tics
  • Acanthocytosis
  • Obsessive-compulsive behavior
  • Elevated serum creatine phosphokinase
  • Areflexia

And 86 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to XK gene

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


MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Alternate names

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls, x-linked mcleod syndrome

Description

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

Most common symptoms of MCLEOD NEUROACANTHOCYTOSIS SYNDROME

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

SOURCES: ORPHANET OMIM

MCLEOD SYNDROME; MCLDS

Alternate names

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype, neuroacanthocytosis, mcleod type

Description

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

Most common symptoms of MCLEOD SYNDROME; MCLDS

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


More info about MCLEOD SYNDROME; MCLDS

SOURCES: MESH OMIM


Potential gene panels for XK gene

Red Blood Cell Membrane Disorders 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 Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

More info about this panel
United States.

Hemolytic Anemia 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 Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel
United States.

XK 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 XK gene.

More info about this panel
United States.

XK 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 XK gene.

More info about this panel
United States.

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel
United States.

Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42

More info about this panel
United States.

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel
United States.

XK. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the XK gene.

More info about this panel
Spain.

McLeod Neuroacanthocytosis Syndrome (sequence analysis of XK gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the XK gene.

More info about this panel
Portugal.

McLeod Syndrome via XK Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the XK gene.

More info about this panel
United States.

XK Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the XK gene.

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel
Germany.

McLeod syndrome with or without chronic granulomatous disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the XK gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Neuroacanthocytosis Panel Panel

Germany.

By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A

More info about this panel
Germany.

Single gene testing XK Panel

Germany.

By CeGaT GmbH

This panel specifically test the XK gene.

More info about this panel
Germany.

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel
Spain.

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel
Spain.

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel
Spain.

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel
Spain.

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel
Spain.

McLeod Neuroacanthocytosis Syndrome, Locus XK Panel

Switzerland.

By Molecular Diagnostics and Research & Development Blood Transfusion Service Zurich - Swiss Red Cross

This panel specifically test the XK gene.

More info about this panel
Switzerland.

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel
United States.

XK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the XK gene.

More info about this panel
United States.

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel
United States.

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel
Finland.

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel
Finland.

McLeod neuroacanthocytosis syndrome Panel

Spain.

By Bioarray

This panel specifically test the XK gene.

More info about this panel
Spain.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

McLEOD SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the XK gene.

More info about this panel
Spain.

McLeod Syndrome, Sequencing XK Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the XK gene.

More info about this panel
Spain.

Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes Panel

Spain.

By Reference Laboratory Genetics Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes that also includes the following genes: XK VPS13A

More info about this panel
Spain.

McLeod Neuroacanthocytosis Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the XK gene.

More info about this panel
Canada.

McLeod Neuroacanthocytosis Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the XK gene.

More info about this panel
Canada.

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