Macroglobulinemia, Waldenstrom 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Macroglobulinemia, Waldenstrom 1

MalaCards integrated aliases for Macroglobulinemia, Waldenstrom 1:

Name: Macroglobulinemia, Waldenstrom 1 ⁵⁷

Macroglobulinemia, Waldenstrom, Susceptibility to, 1 ⁵⁷ ²⁹ ¹³

Macroglobulinemia, Waldenstrom, Somatic ⁵⁷ ²⁹ ⁶

Wm1 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
somatic mutation

HPO:

³¹

macroglobulinemia, waldenstrom 1:
Inheritance somatic mutation

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 153600

OMIM Phenotypic Series ⁵⁷ PS153600

MedGen ⁴¹ C1835192

SNOMED-CT via HPO ⁶⁸ 115244002 118600007 124975008 more

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Summaries for Macroglobulinemia, Waldenstrom 1

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

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

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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	10.0
2	macroglobulinemia	10.0

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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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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Drugs & Therapeutics for Macroglobulinemia, Waldenstrom 1

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

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Genetic Tests for Macroglobulinemia, Waldenstrom 1

Genetic tests related to Macroglobulinemia, Waldenstrom 1:

#	Genetic test	Affiliating Genes
1	Macroglobulinemia, Waldenstrom, Susceptibility to, 1 ²⁹	MYD88
2	Macroglobulinemia, Waldenstrom, Somatic ²⁹

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Anatomical Context for Macroglobulinemia, Waldenstrom 1

MalaCards organs/tissues related to Macroglobulinemia, Waldenstrom 1:

⁴⁰

Bone Marrow, Lung

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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. ⁵⁷ ⁶	Treon SP...Hunter ZR	22931316	2012
2	Oncogenically active MYD88 mutations in human lymphoma. ⁵⁷ ⁶	Ngo VN...Staudt LM	21179087	2011
3	MYD88 Mutations and Response to Ibrutinib in Waldenström's Macroglobulinemia. ⁵⁷	Treon SP...Hunter Z	26244327	2015
4	MYD88 L265P somatic mutation in IgM MGUS. ⁶	Landgren O...Staudt L	23215570	2012
5	Differential characteristics of Waldenström macroglobulinemia according to patterns of familial aggregation. ⁵⁷	Royer RH...McMaster ML	20308603	2010
6	microRNA expression in the biology, prognosis, and therapy of Waldenström macroglobulinemia. ⁵⁷	Roccaro AM...Ghobrial IM	19074725	2009
7	Identification of copy number abnormalities and inactivating mutations in two negative regulators of nuclear factor-kappaB signaling pathways in Waldenstrom's macroglobulinemia. ⁵⁷	Braggio E...Fonseca R	19351844	2009
8	Waldenström macroglobulinemia. ⁵⁷	Vijay A...Gertz MA	17303694	2007
9	Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families. ⁵⁷	McMaster ML...Tucker MA	16960805	2006
10	6q deletion discriminates Waldenström macroglobulinemia from IgM monoclonal gammopathy of undetermined significance. ⁵⁷	Schop RF...Fonseca R	16938573	2006
11	Waldenström's macroglobulinemia-associated retinopathy. ⁵⁷	Sen HN...Buggage RR	15019332	2004
12	Long-term follow-up of IgM monoclonal gammopathy of undetermined significance. ⁵⁷	Kyle RA...Melton LJ	12881316	2003
13	Familial Waldenstrom's macroglobulinemia. ⁵⁷	McMaster ML	12720125	2003
14	Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions. ⁵⁷	Schop RF...Fonseca R	12351413	2002
15	Four brothers with Waldenstrom's macroglobulinemia. ⁵⁷	Renier G...Hurez D	2505923	1989
16	Waldenström's macroglobulinemia in monozygotic twins. ⁵⁷	Fine JM...Lambin P	3099545	1986
17	Clonal abnormalities in patients with Waldenström's macroglobulinemia with special reference to a Burkitt-type t(8;14). ⁵⁷	San Roman C...Odriozola J	3931901	1985
18	Waldenström's macroglobulinemia and autoimmune disease in a family. ⁵⁷	Blattner WA...Fraumeni JF	6778280	1980
19	Macroglobulinaemia in an Icelandic family. ⁵⁷	Bjornsson OG...Valimarsson H	417561	1978
20	Familial Waldenström's macroglobulinaemia: a case report. ⁵⁷	Getaz EP...Staples WG	408931	1977
21	Varied manifestations of a familial lymphoproliferative disorder. ⁵⁷	Fraumeni JF...Leventhal BG	806230	1975
22	Cytogenetic studies in a family with Waldenström's macroglobulinaemia. ⁵⁷	Elves MW...Brown AK	4972660	1968
23	Waldenströms macroglobulinaemia. A family study. ⁵⁷	Brown AK...Pell-Ilderton R	4965185	1967
24	IMMUNOLOGICAL STUDIES IN FAMILIAL BETA 2-MACROGLOBULINAEMIAS. ⁵⁷	SELIGMANN M...FINE JM	14106786	1963
25	Waldenstrom's macroglobulinaemia observed in two brothers. ⁵⁷	MASSARI R...METAIS R	13933388	1962

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Genes for Macroglobulinemia, Waldenstrom 1

Genes related to Macroglobulinemia, Waldenstrom 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYD88	MYD88 Innate Immune Signal Transduction Adaptor	Protein Coding	1000	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹	21179087 22931316 23215570

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Variations for Macroglobulinemia, Waldenstrom 1

ClinVar genetic disease variations for Macroglobulinemia, Waldenstrom 1:

⁶

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

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Expression for Macroglobulinemia, Waldenstrom 1

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

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Pathways for Macroglobulinemia, Waldenstrom 1

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GO Terms for Macroglobulinemia, Waldenstrom 1

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Macroglobulinemia, Waldenstrom 1 (WM1)

Aliases & Classifications for Macroglobulinemia, Waldenstrom 1

MalaCards integrated aliases for Macroglobulinemia, Waldenstrom 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Macroglobulinemia, Waldenstrom 1

Related Diseases for Macroglobulinemia, Waldenstrom 1

Diseases in the Macroglobulinemia, Waldenstrom 1 family:

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

Symptoms & Phenotypes for Macroglobulinemia, Waldenstrom 1

Human phenotypes related to Macroglobulinemia, Waldenstrom 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Macroglobulinemia, Waldenstrom 1

Genetic Tests for Macroglobulinemia, Waldenstrom 1

Genetic tests related to Macroglobulinemia, Waldenstrom 1:

Anatomical Context for Macroglobulinemia, Waldenstrom 1

MalaCards organs/tissues related to Macroglobulinemia, Waldenstrom 1:

Publications for Macroglobulinemia, Waldenstrom 1

Articles related to Macroglobulinemia, Waldenstrom 1:

Genes for Macroglobulinemia, Waldenstrom 1

Genes related to Macroglobulinemia, Waldenstrom 1 (1 elite genes):

Variations for Macroglobulinemia, Waldenstrom 1

ClinVar genetic disease variations for Macroglobulinemia, Waldenstrom 1:

Expression for Macroglobulinemia, Waldenstrom 1

Pathways for Macroglobulinemia, Waldenstrom 1

GO Terms for Macroglobulinemia, Waldenstrom 1

Sources for Macroglobulinemia, Waldenstrom 1