MCID: FNC027
MIFTS: 29

Fanconi Anemia, Complementation Group a malady

Summaries for Fanconi Anemia, Complementation Group a

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47OMIM, 33MalaCards
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MalaCards: Fanconi Anemia, Complementation Group a is related to fanconi's anemia and deficiency anemia. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi anemia, complementation group A), and among its related pathways are Chks in Checkpoint Regulation and Nucleotide Excision Repair. The compounds diepoxybutane and mitomycin c have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, breast and b cells, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:47 227650

Aliases & Classifications for Fanconi Anemia, Complementation Group a

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47OMIM
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Aliases & Descriptions:

fanconi anemia, complementation group a 47


Related Diseases for Fanconi Anemia, Complementation Group a

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Fanconi Anemia, Complementation Group a:



Diseases related to fanconi anemia, complementation group a

Clinical Features for Fanconi Anemia, Complementation Group a

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47OMIM
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Clinical features from OMIM:

227650

Clinical synopsis from OMIM:

227650

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fanconi Anemia, Complementation Group a

Anatomical Context for Fanconi Anemia, Complementation Group a

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33MalaCards
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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group a:

33
Bone marrow, Breast, B cells

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group a:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1PSAP, FANCG, FANCA, CASP3
2MP:00053797.8PSAP, FANCG, FANCA, CASP3

Publications for Fanconi Anemia, Complementation Group a

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51PubMed
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Articles related to Fanconi Anemia, Complementation Group a:

(show all 42)
idTitleAuthorsYear
1
Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein. (24170812)
2013
2
Human Fanconi Anemia Complementation Group A Protein Stimulates the 5' Flap Endonuclease Activity of FEN1. (24349332)
2013
3
Silencing of fanconi anemia complementation group f exhibits potent chemosensitization of mitomycin C activity in breast cancer cells. (24155758)
2013
4
Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia. (24317781)
2013
5
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. (22194614)
2012
6
Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross- link repair. (22396592)
2012
7
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. (19861535)
2009
8
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. (19405097)
2009
9
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. (19423727)
2009
10
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. (19367192)
2009
11
Identification of the Fanconi anemia complementation group I gene, FANCI. (17452773)
2007
12
Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2. (16154163)
2006
13
Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2. (16920162)
2006
14
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (16116422)
2005
15
Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. (15695377)
2005
16
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. (16116423)
2005
17
Phosphorylation of fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway. (15299017)
2004
18
X-linked inheritance of Fanconi anemia complementation group B. (15502827)
2004
19
Fanconi anemia complementation group A cells are hypersensitive to chromium(VI)-induced toxicity. (12426130)
2002
20
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. (11520787)
2001
21
Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. (11161829)
2001
22
Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells. (11750104)
2001
23
Role of double-stranded RNA-dependent protein kinase in mediating hypersensitivity of Fanconi anemia complementation group C cells to interferon gamma, tumor necrosis factor-alpha, and double-stranded RNA. (11238103)
2001
24
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. (11110674)
2000
25
Isolation of a cDNA representing the Fanconi anemia complementation group E gene. (11001585)
2000
26
Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. (10762542)
2000
27
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. (10753211)
2000
28
Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. (10936108)
2000
29
A deficiency in a 230 kDa DNA repair protein in fanconi anemia complementation group A cells is corrected by the FANCA cDNA. (10469633)
1999
30
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (10600472)
1999
31
Intracellular localization of the Fanconi anemia complementation group A protein. (10364463)
1999
32
The Fanconi anemia complementation group A protein contains a peroxidase domain. (9608546)
1998
33
MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups. (9389754)
1997
34
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. (9147877)
1996
35
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. (8639804)
1996
36
The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells. (8822951)
1996
37
Correction of the spontaneous and DEB-induced chromosomal aberrations in Fanconi anemia cells of the FA(C) complementation group by the FACC gene. (8978774)
1996
38
A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. (8414972)
1993
39
Defective DNA endonuclease activities in Fanconi's anemia cells, complementation groups A and B. (1376436)
1992
40
Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens. (2159378)
1990
41
Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment. (3804331)
1987
42
The fate of 8-methoxypsoralen-photoinduced DNA interstrand crosslinks in Fanconi's anemia cells of defined genetic complementation groups. (3670329)
1987

Genetic Variations for Fanconi Anemia, Complementation Group a

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Fanconi Anemia, Complementation Group a:

63 (show all 29)
id Symbol AA change Variation SNP ID
1FANCAp.Ala181ValVAR_009639rs17232246
2FANCAp.Leu244PheVAR_009640
3FANCAp.Asp252GlyVAR_009641rs17225943
4FANCAp.Arg435CysVAR_009642
5FANCAp.His492ArgVAR_009643
6FANCAp.Leu817ProVAR_009647
7FANCAp.Leu845ProVAR_009648
8FANCAp.Arg1055LeuVAR_009649
9FANCAp.His1110ProVAR_009650
10FANCAp.Arg1117GlyVAR_009651
11FANCAp.Gln1128GluVAR_009652
12FANCAp.Thr1131AlaVAR_009653
13FANCAp.Trp1302ArgVAR_009656
14FANCAp.His1417AspVAR_009658rs17227403
15FANCAp.Asp598AsnVAR_017497
16FANCAp.Ser858ArgVAR_017498rs17233141
17FANCAp.Arg1055TrpVAR_017499
18FANCAp.Leu1082ProVAR_017500
19FANCAp.Ser1088PheVAR_017501rs17233497
20FANCAp.Phe1262LeuVAR_017502
21FANCAp.Asp1359TyrVAR_017503
22FANCAp.Met1360IleVAR_017504
23FANCAp.Pro1324LeuVAR_017505rs182657062
24FANCAp.Leu210ArgVAR_038012
25FANCAp.Leu660ProVAR_038013
26FANCAp.Tyr843AspVAR_038015
27FANCAp.Gln869ProVAR_038016
28FANCAp.Leu1249ProVAR_038019
29FANCAp.Arg1400HisVAR_038021rs149851163

Expression for genes affiliated with Fanconi Anemia, Complementation Group a

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Anemia, Complementation Group a

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

Pathways for genes affiliated with Fanconi Anemia, Complementation Group a

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52QIAGEN, 54Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5FANCG, FANCA
2
Hide members
9.5FANCG, FANCA
39.5FANCA, FANCG
49.5FANCG, FANCA
5
Hide members
9.5FANCG, FANCA

Compounds for genes affiliated with Fanconi Anemia, Complementation Group a

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diepoxybutane459.6FANCG, FANCA
2mitomycin c459.4FANCG, FANCA
3phosphatidylserine45 29 1111.0PSAP, CASP3
4cisplatin45 50 60 1111.7FANCG, CASP3, FANCA
5ceramide458.7PSAP, CASP3
6h2o2458.7FANCG, FANCA, CASP3

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

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16Gene Ontology
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Cellular components related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432409.2FANCG, FANCA
2nucleoplasmGO:0056548.7FANCG, FANCA, CASP3

Products for genes affiliated with Fanconi Anemia, Complementation Group a

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fanconi Anemia, Complementation Group a

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet