MCID: FNC031
MIFTS: 37

Fanconi Anemia, Complementation Group M malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Summaries for Fanconi Anemia, Complementation Group M

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OMIM:45 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability.... (614087) more...

MalaCards based summary: Fanconi Anemia, Complementation Group M is related to aplastic anemia and precursor t-cell acute lymphoblastic leukemia, and has symptoms including autosomal recessive inheritance, growth delay and anemia. 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.

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 45 10 22


Classifications:



External Ids:

OMIM45 614087

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:

Search ClinicalTrials for Fanconi Anemia, Complementation Group M

Search NIH Clinical Center for Fanconi Anemia, Complementation Group M

Genetic Tests for Fanconi Anemia, Complementation Group M

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Genetic tests related to Fanconi Anemia, Complementation Group M:

id Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group M22

Anatomical Context for Fanconi Anemia, Complementation Group M

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

31
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:

35
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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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 Variation 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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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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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate439.3BLM, TOP3A
2cisplatin43 49 59 1212.3FANCD2, FANCA, FANCG
3melphalan43 49 1211.2FANCD2, FANCC
4hydroxyurea43 49 1211.1FANCD2, TOP3A, BLM
5diepoxybutane438.8FANCA, FANCG, FANCC, FANCD2
6mitomycin c437.8FANCC, FANCA, FANCL, FANCG, FANCE, FANCD2

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:00166059.1BLM, TOP3A
2nucleolusGO:00057307.7C17orf70, BLM, FANCD2, FANCG, FANCM, FANCA
3Fanconi anaemia nuclear complexGO:00432407.6FANCB, FANCA, FANCM, FANCL, FANCG, FANCE
4cytoplasmGO:00057377.3C17orf70, BLM, FANCC, FANCG, FANCL, FANCA
5nucleusGO:00056346.4BLM, TOP3A, FANCC, FANCD2, FANCE, FANCM
6nucleoplasmGO:00056546.3C17orf70, FANCB, FANCC, FANCF, FANCD2, FANCE

Biological processes related to Fanconi Anemia, Complementation Group M according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:00312979.7BLM, FANCM
2gamete generationGO:00072769.6FANCL, FANCD2
3protein complex assemblyGO:00064619.4FANCA, FANCC
4regulation of cell proliferationGO:00421279.3FANCA, FANCL
5DNA repairGO:00062815.8FANCA, C17orf70, BLM, FANCB, FANCC, FANCF

Molecular functions related to Fanconi Anemia, Complementation Group M according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent helicase activityGO:00080269.7FANCM, BLM
2protein bindingGO:00055155.7FANCA, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet