Macroglobulinemia, Waldenstrom, Susceptibility To, 1; Wm1

Description

Waldenstrom macroglobulinemia (WM) is a malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein (review by Vijay and Gertz, 2007). The importance of genetic factors is suggested by the observation of familial clustering of WM (McMaster, 2003). Whereas WM is rare, an asymptomatic elevation of monoclonal IgM protein, termed 'IgM monoclonal gammopathy of undetermined significance' (IgM MGUS) is more common. Patients with IgM MGUS can progress to develop WM, at the rate of 1.5% to 2% per year (Kyle et al., 2003). Genetic Heterogeneity of Waldenstrom MacroglobulinemiaOne locus for susceptibility to Waldenstrom macroglobulinemia (WM1) maps to chromosome 6p21.3. Another locus (WM2 ) maps to chromosome 4q.

Clinical Features

Top most frequent phenotypes and symptoms related to Macroglobulinemia, Waldenstrom, Susceptibility To, 1; Wm1

  • Hearing impairment
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Splenomegaly
  • Fever
  • Respiratory insufficiency
  • Renal insufficiency
  • Diarrhea
  • Fatigue
And another 38 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Macroglobulinemia, Waldenstrom, Susceptibility To, 1; Wm1 have a estimated incidence of 0.81 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Macroglobulinemia, Waldenstrom, Susceptibility To, 1; Wm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
MYD88 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MYD88
Specificity
100 %
Genes
100 %
MYD88 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MYD88
Specificity
100 %
Genes
100 %
Waldenström macroglobulinemia (p.Leu265Pro mutation on MYD88 gene).

By CGC Genetics in Portugal.

MYD88
Specificity
100 %
Genes
100 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Macroglobulinemia, Waldenstrom, somatic.

By Centogene AG - the Rare Disease Company in Germany.

MYD88
Specificity
100 %
Genes
100 %
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

MYD88
Specificity
100 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH in Germany.

STAT1, TLR3, TBK1, APOL1, MYD88, CXCR4, IRAK4, NFKBIA, IL17F, CARD9, UNC93B1, TRAF3, TICAM1, TMC6, TMC8, MCM4, TRAF3IP2, IL17RA, TIRAP
Specificity
6 %
Genes
100 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae in United States.

STAT1, GATA2, CYBB, SAMHD1, ADAR, MYD88, IFNGR1, IFNGR2, IRAK4, IL12RB1, TYK2, IL12B, ISG15, ACP5, STAT2, IRF8
Specificity
7 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Waldenström's Macroglobulinemia: MYD88 gene mutation analysis (p.L265P).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MYD88
Specificity
100 %
Genes
100 %
MYD88.

By Fulgent Genetics Fulgent Genetics in United States.

MYD88
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
MYD88.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

MYD88
Specificity
100 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Focus::MPN™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, BRAF, KRAS, MAP2K1, NRAS, ATM, CDKN2A, BTK, MED12, ZMYM3, NOTCH1, SF3B1, MYD88, POT1, CARD11, PLCG2, BIRC3, IRF4, IKZF3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Waldestrom Macroglobulinemia , Mutation (L265P) MYD88 Gene Whole Blood.

By Reference Laboratory Genetics in Spain.

MYD88
Specificity
100 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6 DE SANCTIS-CACCHIONE SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more