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.
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
GLIOSARCOMA
GIANT CELL GLIOBLASTOMA
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
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
Search interest in LZTR1
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
Schwannomatosis (sequence analysis of LZTR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LZTR1 gene.
More info about this panel Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
LZTR1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the LZTR1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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.
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.
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 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.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
LZTR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LZTR1 gene.
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 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 Finland.
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 Finland.
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 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.
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 Finland.
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 Finland.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
Schwannomatosis, Sequencing LZTR1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LZTR1 gene.
More info about this panel Spain.
Schwannomatosis, Deletions-Duplications (MLPA) LZTR1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LZTR1 gene.
More info about this panel Spain.
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 Spain.
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 United States.
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 United States.
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