RRAS gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RRAS gene

Symptoms // Phenotype % Cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Myeloproliferative disorder Very Common - Between 80% and 100% cases
Curly hair Uncommon - Between 30% and 50% cases
Myopathic facies Uncommon - Between 30% and 50% cases
Abnormality of coagulation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Prolonged bleeding time
  • Atrioventricular canal defect
  • Cystic hygroma
  • Abnormality of digit
  • Male infertility
  • Thoracic scoliosis
  • Melanocytic nevus
  • Aortic root aneurysm

And 162 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RRAS gene

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


JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

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


Potential gene panels for RRAS gene

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.

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.

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-Like Syndrome via RRAS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RRAS 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.

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.

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.

RASopathies Panel

Germany.

By MGZ Medical Genetics Center RASopathies that also includes the following genes: RRAS BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2

More info about this panel
Germany.

Noonan Syndrome Panel

Germany.

By MGZ Medical Genetics Center Noonan Syndrome that also includes the following genes: RRAS SOS1 CBL SHOC2 KRAS NRAS PTPN11 RAF1 RASA2

More info about this panel
Germany.

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel
Germany.

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel
Germany.

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel
Germany.

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.

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.

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.

Invitae Noonan Syndrome Panel Panel

United States.

By Invitae Invitae Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS MAP2K1

More info about this panel
United States.

Invitae RASopathies Comprehensive Panel Panel

United States.

By Invitae Invitae RASopathies Comprehensive Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS

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.

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.

NOONAN-LIKE SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL NOONAN-LIKE SYNDROME that also includes the following genes: RRAS CBL SHOC2 A2ML1 NSUN2 MAP2K2

More info about this panel
Spain.

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel
United States.

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel
United States.

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel
United States.

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel
United States.

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel
United States.

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel
United States.

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel
United States.

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