MCID: FNC031
MIFTS: 34

Fanconi Anemia, Complementation Group M malady

Genetic diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Fanconi Anemia, Complementation Group M

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MalaCards based summary: Fanconi Anemia, Complementation Group M is related to aplastic anemia and precursor t-cell acute lymphoblastic leukemia, and has symptoms including 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 marrow and bone, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Description from OMIM:46 614087

Aliases & Classifications for Fanconi Anemia, Complementation Group M

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Fanconi Anemia, Complementation Group M, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group M 46


Classifications:



Related Diseases for Fanconi Anemia, Complementation Group M

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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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Clinical features from OMIM:

614087

HPO human phenotypes related to Fanconi Anemia, Complementation Group M:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 growth delay HP:0001510
3 anemia HP:0001903
4 abnormality of chromosome stability HP:0003220

Drugs & Therapeutics for Fanconi Anemia, Complementation Group M

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Drug clinical trials:

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Search NIH Clinical Center for Fanconi Anemia, Complementation Group M

Genetic Tests for Fanconi Anemia, Complementation Group M

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Anatomical Context for Fanconi Anemia, Complementation Group M

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

32
Bone marrow, Bone

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8FANCA, FANCM, FANCD2, BLM
2MP:00053798.1FANCC, FANCD2, FANCG, FANCL, FANCM, FANCA
3MP:00053898.0FANCC, FANCD2, FANCG, FANCL, FANCM, FANCA
4MP:00053977.9BLM, FANCC, FANCD2, FANCM, FANCA
5MP:00107687.9FANCA, FANCM, FANCL, FANCD2, TOP3A, BLM
6MP:00053847.1FANCA, BLM, TOP3A, FANCC, FANCD2, FANCG

Publications for Fanconi Anemia, Complementation Group M

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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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Clinvar genetic disease variations for Fanconi Anemia, Complementation Group M:

6
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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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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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 recombination37
9.4TOP3A, BLM
3
Show member pathways
9.4TOP3A, BLM
49.2BLM, FANCD2, FANCL
5
Show member pathways
8.1FANCC, FANCF, FANCD2, FANCE, FANCG, FANCA
68.0BLM, TOP3A, FANCB, FANCD2, FANCG, FANCL
77.6FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
8
Show member pathways
7.1FANCL, FANCA, FANCG, FANCE, FANCD2, BLM
9
Show member pathways
6.3C17orf70, FANCB, FANCC, FANCF, FANCD2, FANCE
10
Show member pathways
6.3FANCA, C17orf70, FANCB, FANCC, FANCF, FANCD2
115.2FANCA, TOP3A, FANCB, FANCC, FANCF, FANCD2

Compounds for genes affiliated with Fanconi Anemia, Complementation Group M

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

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate449.3BLM, TOP3A
2cisplatin44 50 61 1112.3FANCA, FANCG, FANCD2
3melphalan44 50 1111.2FANCD2, FANCC
4hydroxyurea44 50 1111.1FANCD2, TOP3A, BLM
5diepoxybutane448.8FANCC, FANCD2, FANCG, FANCA
6mitomycin c447.8FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF

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

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

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.1TOP3A, BLM
2nucleolusGO:0057307.7C17orf70, BLM, FANCD2, FANCG, FANCM, FANCA
3Fanconi anaemia nuclear complexGO:0432407.6FANCA, FANCB, FANCC, FANCF, FANCE, FANCG
4cytoplasmGO:0057377.3BLM, FANCC, FANCG, FANCL, FANCA, C17orf70
5nucleusGO:0056346.4C17orf70, BLM, TOP3A, FANCC, FANCD2, FANCE
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet