LZTR1 gene related symptoms and diseases

All the information presented here about the LZTR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LZTR1 gene

Symptoms // Phenotype % Cases
Webbed neck Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Coarctation of aorta Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LZTR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cafe-au-lait spot
  • Ptosis
  • Schwannoma
  • Curly hair
  • Cryptorchidism
  • Abnormality of coagulation
  • Short stature
  • Hypertelorism

And 160 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LZTR1 gene

Here you will find a list of rare diseases related to the LZTR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NOONAN SYNDROME


Description

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Most common symptoms of NOONAN SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about NOONAN SYNDROME

SOURCES: ORPHANET

NOONAN SYNDROME 10; NS10


Description

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Most common symptoms of NOONAN SYNDROME 10; NS10

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


More info about NOONAN SYNDROME 10; NS10

SOURCES: OMIM

GIANT CELL GLIOBLASTOMA



More info about GIANT CELL GLIOBLASTOMA

SOURCES: ORPHANET

NEUROFIBROMATOSIS TYPE 3


Alternate names

NEUROFIBROMATOSIS TYPE 3 Is also known as neurilemmomatosis, nf3, nf iii, neurofibromatosis, type iii, riccardi type, neurofibromatosis, type iii, of riccardi, schwannomatosis

Description

Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.

Most common symptoms of NEUROFIBROMATOSIS TYPE 3

  • Cafe-au-lait spot
  • Neurofibromas
  • Freckling
  • Meningioma
  • Lisch nodules


More info about NEUROFIBROMATOSIS TYPE 3

SOURCES: OMIM ORPHANET

SCHWANNOMATOSIS 2; SWNTS2


Description

Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by Piotrowski et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 (OMIM ).

Most common symptoms of SCHWANNOMATOSIS 2; SWNTS2

  • Neoplasm
  • Schwannoma
  • Spinal cord tumor


More info about SCHWANNOMATOSIS 2; SWNTS2

SOURCES: OMIM


Potential gene panels for LZTR1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

NGS RASopathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1

More info about this panel

Noonan Syndrome 11-Gene Sequencing Panel Panel

United States.

By Center for Human Genetics, Inc Noonan Syndrome 11-Gene Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 KRAS LZTR1 NRAS PTPN11

More info about this panel

Rasopathy NextGen Panel Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Rasopathy NextGen Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Prenatal Noonan Spectrum Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Prenatal Noonan Spectrum Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 HRAS KRAS LZTR1 MAP2K1 MAP2K2 NRAS

More info about this panel

Noonan syndrome/RASopathy Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Noonan syndrome/RASopathy Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1 HRAS

More info about this panel

LZTR1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LZTR1 gene.

More info about this panel

Schwannomatosis (sequence analysis of LZTR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LZTR1 gene.

More info about this panel

Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1) Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1) that also includes the following genes: SMARCB1 LZTR1 NF2

More info about this panel

Peripheral Nerve Sheath Tumor NGS panel Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Peripheral Nerve Sheath Tumor NGS panel that also includes the following genes: SMARCB1 KRAS LZTR1 NF1 NF2 PTPN11

More info about this panel

Schwannomatosis/ Multiple Schwannomas NGS Panel Panel

United States.

By Medical Genomics Laboratory Department of Genetics UAB Schwannomatosis/ Multiple Schwannomas NGS Panel that also includes the following genes: SMARCB1 LZTR1 NF2

More info about this panel

Schwannomatosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Schwannomatosis Sequencing Panel with CNV Detection that also includes the following genes: SMARCB1 LZTR1

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1

More info about this panel

Noonan Syndrome via LZTR1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LZTR1 gene.

More info about this panel

Noonan spectrum disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan spectrum disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan spectrum disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Noonan syndrome core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Noonan syndrome core Deletion / Duplication panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1

More info about this panel

Noonan syndrome core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Noonan syndrome core Comprehensive panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1

More info about this panel

Noonan syndrome core NGS panel Panel

United States.

By Connective Tissue Gene Tests Noonan syndrome core NGS panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Noonan syndrome - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Noonan syndrome - different panels that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 A2ML1 KRAS LZTR1 MAP2K1 NRAS

More info about this panel

LZTR1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the LZTR1 gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Noonan syndrome type 10 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LZTR1 gene.

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Noonan Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Noonan Syndrome that also includes the following genes: BRAF SOS1 CBL SHOC2 KAT6B SPRED1 HRAS KRAS LZTR1 MAP2K1

More info about this panel

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

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

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

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

RASopathies Panel Panel

Spain.

By Health in Code RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SHOC2 SPRED1 A2ML1 HRAS KRAS

More info about this panel

NEUROFIBROMATOSI DE TYPE 2 - NF2 gene Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NEUROFIBROMATOSI DE TYPE 2 - NF2 gene that also includes the following genes: SMARCB1 LZTR1 NF2

More info about this panel

FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene that also includes the following genes: SMARCB1 LZTR1 NF2

More info about this panel

RASOPATHY-RELATED SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute RASOPATHY-RELATED SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

More info about this panel

NOONAN SYNDROME Panel

Spain.

By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NOONAN SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS LZTR1

More info about this panel

LZTR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LZTR1 gene.

More info about this panel

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

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

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

Noonan Syndrome Panel Panel

Finland.

By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

NOONAN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN SYNDROME that also includes the following genes: RIT1 BRAF SOS1 SOS2 KRAS LZTR1 MAP2K1 NRAS PTPN11 RAF1

More info about this panel

NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL that also includes the following genes: SMARCB1 COQ6 SPRED1 CABIN1 LZTR1 NF1 NF2 PRKAR1A

More info about this panel

SCHWANNOMATOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL SCHWANNOMATOSIS that also includes the following genes: SMARCB1 COQ6 CABIN1 LZTR1

More info about this panel

NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN & NOONAN-LIKE SYNDROMES : NGS PANEL that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL A2ML1 NSUN2 KRAS LZTR1

More info about this panel

Schwannomatosis, Sequencing LZTR1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LZTR1 gene.

More info about this panel

Schwannomatosis, Deletions-Duplications (MLPA) LZTR1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LZTR1 gene.

More info about this panel

Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMARCB1 SMARCE1 SUFU LZTR1 NF2 PDGFB PTEN

More info about this panel

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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