KCNQ1OT1 gene related symptoms and diseases
All the information presented here about the KCNQ1OT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNQ1OT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hemihypertrophy | Very Common - Between 80% and 100% cases |
| Cryptorchidism | Very Common - Between 80% and 100% cases |
| Embryonal neoplasm | Very Common - Between 80% and 100% cases |
| Overgrowth | Very Common - Between 80% and 100% cases |
| Nephroblastoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KCNQ1OT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Neoplasm
- Polyhydramnios
- Facial asymmetry
- Abnormality of the outer ear
- Umbilical hernia
- Inguinal hernia
- Large for gestational age
- Hypoglycemia
And 135 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNQ1OT1 gene
Here you will find a list of rare diseases related to the KCNQ1OT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BECKWITH-WIEDEMANN SYNDROME; BWS
Alternate names
BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome, exomphalos-macroglossia-gigantism syndrome, wiedemann-beckwith syndrome, wbs
Description
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.
Most common symptoms of BECKWITH-WIEDEMANN SYNDROME; BWS
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about BECKWITH-WIEDEMANN SYNDROME; BWS
SOURCES: OMIM
ISOLATED HEMIHYPERPLASIA
Alternate names
ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy, hemi 3 syndrome, hemihypertrophy, isolated, hemihyperplasia, isolated hemihypertrophy, hhp
Description
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.
Most common symptoms of ISOLATED HEMIHYPERPLASIA
- Seizures
- Scoliosis
- Neoplasm
- Cryptorchidism
- Hydrocephalus
More info about ISOLATED HEMIHYPERPLASIA
BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15
Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15
- Seizures
- Neoplasm
- Muscle weakness
- Cleft palate
- Cryptorchidism
More info about BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15
SOURCES: ORPHANET
Search interest in KCNQ1OT1
Potential gene panels for KCNQ1OT1 gene
Chromosome 11-related Beckwith-Wiedemann Syndrome Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital Chromosome 11-related Beckwith-Wiedemann Syndrome that also includes the following genes: H19 KCNQ1OT1
More info about this panel United States.
Chromosome 11-Related Russell-Silver Syndrome Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the KCNQ1OT1 gene.
More info about this panel United States.
Test for Beckwith-Wiedemann Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Test for Beckwith-Wiedemann Syndrome that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panel Netherlands.
Beckwith-Wiedemann Syndrome (methylation test) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Beckwith-Wiedemann Syndrome (methylation test) that also includes the following genes: H19 KCNQ1OT1
More info about this panel Netherlands.
Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes) Panel
Portugal.
By CGC Genetics Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes) that also includes the following genes: H19 KCNQ1OT1
More info about this panel Portugal.
Beckwith-Wiedemann syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNQ1OT1 gene.
More info about this panel Germany.
Beckwith-Wiedemann syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the KCNQ1OT1 gene.
More info about this panel Austria.
Beckwith-Wiedemann syndrome Panel
Slovakia.
By MedGene
This panel specifically test the KCNQ1OT1 gene.
More info about this panel Slovakia.
Beckwith-Wiedemann syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Beckwith-Wiedemann syndrome that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panel Spain.
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) that also includes the following genes: CDKN1C H19 IGF2 KCNQ1 KCNQ1OT1
More info about this panel Spain.
Beckwith-Wiedemann Syndrome Panel: H19 and LIT1 Methylation Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Beckwith-Wiedemann Syndrome Panel: H19 and LIT1 Methylation Panel that also includes the following genes: H19 KCNQ1OT1
More info about this panel United States.
Beckwith-Wiedemann Syndrome: LIT1 Methylation Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the KCNQ1OT1 gene.
More info about this panel United States.
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.
BECKWITH-WIEDEMANN SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL BECKWITH-WIEDEMANN SYNDROME that also includes the following genes: CDKN1C H19 KCNQ1OT1
More info about this panel Spain.
Beckwith-Wiedemann Syndrome, Deletions-Duplications (MLPA) KCNQ1OT1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNQ1OT1 gene.
More info about this panel Spain.
Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: NSD1 CDKN1C H19 KCNQ1OT1
More info about this panel Spain.
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