MCID: FNC031
MIFTS: 33

Fanconi Anemia, Complementation Group M malady

Genetic diseases (common) category

Summaries for Fanconi Anemia, Complementation Group M

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48OMIM, 34MalaCards
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MalaCards: Fanconi Anemia, Complementation Group M is related to aplastic anemia and precursor t-cell acute lymphoblastic leukemia. An important gene associated with Fanconi Anemia, Complementation Group M is FANCM (Fanconi anemia, complementation group M), and among its related pathways are DNA damage Role of Brca1 and Brca2 in DNA repair and Homologous recombination. The compounds methylmethanesulfonate and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Description from OMIM:48 614087

Aliases & Classifications for Fanconi Anemia, Complementation Group M

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

fanconi anemia, complementation group m 48


Related Diseases for Fanconi Anemia, Complementation Group M

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Fanconi Anemia, Complementation Group M:



Diseases related to fanconi anemia, complementation group m

Symptoms for Fanconi Anemia, Complementation Group M

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48OMIM
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Clinical features from OMIM:

614087

Drugs & Therapeutics for Fanconi Anemia, Complementation Group M

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fanconi Anemia, Complementation Group M

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Anatomical Context for Fanconi Anemia, Complementation Group M

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34MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group M:

34
Bone, Bone marrow

Animal Models for Fanconi Anemia, Complementation Group M or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group M:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8FANCD2, FANCM, FANCA, BLM
2MP:00053798.1FANCM, FANCA, FANCG, FANCD2, FANCC, FANCL
3MP:00053898.0FANCA, FANCM, FANCL, FANCC, FANCD2, FANCG
4MP:00053977.9FANCC, FANCA, FANCM, FANCD2, BLM
5MP:00107687.9TOP3A, FANCD2, FANCL, FANCA, FANCM, BLM
6MP:00053847.1FANCM, FANCA, FANCL, FANCG, FANCD2, FANCC

Publications for Fanconi Anemia, Complementation Group M

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53PubMed
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Articles related to Fanconi Anemia, Complementation Group M:

idTitleAuthorsYear
1
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. (19423727)
2009
2
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (16116422)
2005

Variations for Fanconi Anemia, Complementation Group M

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fanconi Anemia, Complementation Group M:

1
id Gene Name Type Significance SNP ID Assembly Location
1FANCMNM_020937.2(FANCM): c.2171C> A (p.Ser724Ter)single nucleotide variantPathogenicrs137852864GRCh37Chr 14, 45642268: 45642268
2FANCMFANCM, 2,554-BP DELdeletionPathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group M

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group M

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group M.

Pathways for genes affiliated with Fanconi Anemia, Complementation Group M

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51PathCards, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 13EMD Millipore, 56Reactome, 54QIAGEN
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Pathways related to Fanconi Anemia, Complementation Group M according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FANCL, FANCD2
2
Show member pathways
Homologous recombination39
9.4BLM, TOP3A
3
Show member pathways
9.4TOP3A, BLM
49.2BLM, FANCD2, FANCL
5
Show member pathways
8.1FANCC, FANCA, FANCG, FANCE, FANCD2, FANCF
68.0FANCG, FANCD2, FANCB, TOP3A, BLM, FANCL
77.6FANCA, FANCL, FANCC, FANCF, FANCD2, FANCE
8
Show member pathways
7.1FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF
9
Show member pathways
6.3FANCB, FANCC, FANCF, FANCD2, FANCE, FANCG
10
Show member pathways
6.3C17orf70, FANCB, FANCC, FANCD2, FANCE, FANCG
115.2C17orf70, BLM, TOP3A, FANCB, FANCC, FANCF

Compounds for genes affiliated with Fanconi Anemia, Complementation Group M

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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank
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Compounds related to Fanconi Anemia, Complementation Group M according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate469.3BLM, TOP3A
2cisplatin46 52 62 1212.3FANCD2, FANCA, FANCG
3melphalan46 52 1211.2FANCD2, FANCC
4hydroxyurea46 52 1211.1FANCD2, TOP3A, BLM
5diepoxybutane468.8FANCA, FANCG, FANCC, FANCD2
6mitomycin c467.8FANCC, FANCA, FANCL, FANCG, FANCE, FANCD2

GO Terms for genes affiliated with Fanconi Anemia, Complementation Group M

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17Gene Ontology
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Cellular components related to Fanconi Anemia, Complementation Group M according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.1BLM, TOP3A
2nucleolusGO:0057307.7C17orf70, BLM, FANCD2, FANCG, FANCM, FANCA
3Fanconi anaemia nuclear complexGO:0432407.6FANCB, FANCA, FANCM, FANCL, FANCG, FANCE
4cytoplasmGO:0057377.3C17orf70, BLM, FANCC, FANCG, FANCL, FANCA
5nucleusGO:0056346.4BLM, TOP3A, FANCC, FANCD2, FANCE, FANCM
6nucleoplasmGO:0056546.3C17orf70, FANCB, FANCC, FANCF, FANCD2, FANCE

Biological processes related to Fanconi Anemia, Complementation Group M according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:0312979.7BLM, FANCM
2gamete generationGO:0072769.6FANCL, FANCD2
3protein complex assemblyGO:0064619.4FANCA, FANCC
4regulation of cell proliferationGO:0421279.3FANCA, FANCL
5DNA repairGO:0062815.8FANCA, C17orf70, BLM, FANCB, FANCC, FANCF

Molecular functions related to Fanconi Anemia, Complementation Group M according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent helicase activityGO:0080269.7FANCM, BLM
2protein bindingGO:0055155.7FANCA, C17orf70, BLM, TOP3A, FANCB, FANCC

Products for genes affiliated with Fanconi Anemia, Complementation Group M

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Sources for Fanconi Anemia, Complementation Group M

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet