WM1
MCID: MCR161
MIFTS: 22

Macroglobulinemia, Waldenstrom 1 (WM1)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Macroglobulinemia, Waldenstrom 1

MalaCards integrated aliases for Macroglobulinemia, Waldenstrom 1:

Name: Macroglobulinemia, Waldenstrom 1 56
Macroglobulinemia, Waldenstrom, Somatic 56 29 6
Macroglobulinemia, Waldenstrom, Susceptibility to, 1 56 13
Wm1 56

Characteristics:

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
macroglobulinemia, waldenstrom 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macroglobulinemia, Waldenstrom 1

OMIM : 56 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). (153600)

MalaCards based summary : Macroglobulinemia, Waldenstrom 1, also known as macroglobulinemia, waldenstrom, somatic, is related to ocular motor apraxia. An important gene associated with Macroglobulinemia, Waldenstrom 1 is MYD88 (MYD88 Innate Immune Signal Transduction Adaptor). Affiliated tissues include bone marrow, bone and b cells, and related phenotypes are leukemia and lymphoma

Related Diseases for Macroglobulinemia, Waldenstrom 1

Diseases in the Macroglobulinemia, Waldenstrom 1 family:

Macroglobulinemia, Waldenstrom 2

Diseases related to Macroglobulinemia, Waldenstrom 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ocular motor apraxia 10.3

Symptoms & Phenotypes for Macroglobulinemia, Waldenstrom 1

Human phenotypes related to Macroglobulinemia, Waldenstrom 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 leukemia 31 occasional (7.5%) HP:0001909
2 lymphoma 31 occasional (7.5%) HP:0002665
3 polyneuropathy 31 HP:0001271
4 monoclonal immunoglobulin m proteinemia 31 HP:0005508
5 polyclonal elevation of igm 31 HP:0003459
6 impaired lymphocyte transformation with phytohemagglutinin 31 HP:0003347

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
polyneuropathy

Hematology:
waldenstrom macroglobulinemia

Immunology:
polyclonal elevation of igm
impaired lymphocyte transformation with phytohemagglutinin

Neoplasia:
increased frequency of lymphoma, leukemia, and adenocarcinoma of lung

Clinical features from OMIM:

153600

Drugs & Therapeutics for Macroglobulinemia, Waldenstrom 1

Search Clinical Trials , NIH Clinical Center for Macroglobulinemia, Waldenstrom 1

Genetic Tests for Macroglobulinemia, Waldenstrom 1

Genetic tests related to Macroglobulinemia, Waldenstrom 1:

# Genetic test Affiliating Genes
1 Macroglobulinemia, Waldenstrom, Somatic 29

Anatomical Context for Macroglobulinemia, Waldenstrom 1

MalaCards organs/tissues related to Macroglobulinemia, Waldenstrom 1:

40
Bone Marrow, Bone, B Cells, Lung

Publications for Macroglobulinemia, Waldenstrom 1

Articles related to Macroglobulinemia, Waldenstrom 1:

(show all 25)
# Title Authors PMID Year
1
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. 56 6
22931316 2012
2
Oncogenically active MYD88 mutations in human lymphoma. 6 56
21179087 2011
3
MYD88 Mutations and Response to Ibrutinib in Waldenström's Macroglobulinemia. 56
26244327 2015
4
MYD88 L265P somatic mutation in IgM MGUS. 6
23215570 2012
5
Differential characteristics of Waldenström macroglobulinemia according to patterns of familial aggregation. 56
20308603 2010
6
Identification of copy number abnormalities and inactivating mutations in two negative regulators of nuclear factor-kappaB signaling pathways in Waldenstrom's macroglobulinemia. 56
19351844 2009
7
microRNA expression in the biology, prognosis, and therapy of Waldenström macroglobulinemia. 56
19074725 2009
8
Waldenström macroglobulinemia. 56
17303694 2007
9
Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families. 56
16960805 2006
10
6q deletion discriminates Waldenström macroglobulinemia from IgM monoclonal gammopathy of undetermined significance. 56
16938573 2006
11
Waldenström's macroglobulinemia-associated retinopathy. 56
15019332 2004
12
Long-term follow-up of IgM monoclonal gammopathy of undetermined significance. 56
12881316 2003
13
Familial Waldenstrom's macroglobulinemia. 56
12720125 2003
14
Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions. 56
12351413 2002
15
Four brothers with Waldenstrom's macroglobulinemia. 56
2505923 1989
16
Waldenström's macroglobulinemia in monozygotic twins. 56
3099545 1986
17
Clonal abnormalities in patients with Waldenström's macroglobulinemia with special reference to a Burkitt-type t(8;14). 56
3931901 1985
18
Waldenström's macroglobulinemia and autoimmune disease in a family. 56
6778280 1980
19
Macroglobulinaemia in an Icelandic family. 56
417561 1978
20
Familial Waldenström's macroglobulinaemia: a case report. 56
408931 1977
21
Varied manifestations of a familial lymphoproliferative disorder. 56
806230 1975
22
Cytogenetic studies in a family with Waldenström's macroglobulinaemia. 56
4972660 1968
23
Waldenströms macroglobulinaemia. A family study. 56
4965185 1967
24
IMMUNOLOGICAL STUDIES IN FAMILIAL BETA 2-MACROGLOBULINAEMIAS. 56
14106786 1963
25
Waldenstrom's macroglobulinaemia observed in two brothers. 56
13933388 1962

Variations for Macroglobulinemia, Waldenstrom 1

ClinVar genetic disease variations for Macroglobulinemia, Waldenstrom 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYD88 NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)SNV Uncertain significance 37055 rs387907272 3:38182641-38182641 3:38141150-38141150

Expression for Macroglobulinemia, Waldenstrom 1

Search GEO for disease gene expression data for Macroglobulinemia, Waldenstrom 1.

Pathways for Macroglobulinemia, Waldenstrom 1

GO Terms for Macroglobulinemia, Waldenstrom 1

Sources for Macroglobulinemia, Waldenstrom 1

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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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