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.

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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

SOURCES: OMIM ORPHANET MESH

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


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

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

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

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

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

Beckwith-Wiedemann syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KCNQ1OT1 gene.

More info about this panel

Beckwith-Wiedemann syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the KCNQ1OT1 gene.

More info about this panel

Beckwith-Wiedemann syndrome Panel

Slovakia.

By MedGene

This panel specifically test the KCNQ1OT1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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


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