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
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
Search interest in XK
Potential gene panels for XK gene
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel
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 panelHemolytic Anemia Panel by next-generation sequencing (NGS) Panel
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 panelXK sequencing Panel
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 panelXK Deletion/duplication analysis Panel
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 panelHemolytic Anemia Deletion/Duplication Panel Panel
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 panelRed Blood Cell Membrane Disorders Deletion/Duplication Panel Panel
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 panelDystonia Exome Panel Panel
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 panelXK. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the XK gene.
More info about this panelMcLeod Neuroacanthocytosis Syndrome (sequence analysis of XK gene) Panel
By CGC Genetics
This panel specifically test the XK gene.
More info about this panelMcLeod Syndrome via XK Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the XK gene.
More info about this panelXK Panel
By MGZ Medical Genetics Center
This panel specifically test the XK gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelBrain Malformations / Neuronal Migration Disorders Panel
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 panelMcLeod syndrome with or without chronic granulomatous disease Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the XK gene.
More info about this panelAllNeuro panel Panel
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 panelNeuroacanthocytosis Panel Panel
By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A
More info about this panelSingle gene testing XK Panel
By CeGaT GmbH
This panel specifically test the XK gene.
More info about this panelNGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
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 panelCardiovascular Diseases_General Panel Panel
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 panelSkeletal myopathy Panel Panel
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 panelArrhythmia General Panel Panel
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 panelCardiomyopathies General Panel Panel
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 panelMcLeod Neuroacanthocytosis Syndrome, Locus XK Panel
By Molecular Diagnostics and Research & Development Blood Transfusion Service Zurich - Swiss Red Cross
This panel specifically test the XK gene.
More info about this panelHereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
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 panelXK Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XK gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
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 panelCardiomyopathy Panel Panel
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 panelComprehensive Cardiology Panel Panel
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 panelMcLeod neuroacanthocytosis syndrome Panel
By Bioarray
This panel specifically test the XK gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelMcLEOD SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the XK gene.
More info about this panelMcLeod Syndrome, Sequencing XK Gene Panel
By Reference Laboratory Genetics
This panel specifically test the XK gene.
More info about this panelNeuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes Panel
By Reference Laboratory Genetics Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes that also includes the following genes: XK VPS13A
More info about this panelMcLeod Neuroacanthocytosis Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the XK gene.
More info about this panelMcLeod Neuroacanthocytosis Syndrome: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the XK gene.
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