MCID: FNC027
MIFTS: 39

Fanconi Anemia, Complementation Group a malady

Genetic diseases (common) category
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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 tay-sachs disease and krabbe disease. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi anemia, complementation group A), and among its related pathways are BARD1 signaling events and BRCA1 Pathway. The compounds diepoxybutane and mitomycin c have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Description from OMIM:47 227650

Aliases & Classifications for Fanconi Anemia, Complementation Group a

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47OMIM
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Classifications:

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Global: Genetic diseases (common)


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

Symptoms for Fanconi Anemia, Complementation Group a

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47OMIM
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Symptoms by clinical synopsis from OMIM:

227650

Clinical features from OMIM:

227650

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group a

Search NIH Clinical Center for Fanconi Anemia, Complementation Group a

Genetic Tests for Fanconi Anemia, Complementation Group a

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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, Bone

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

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37MGI
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MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group a:

37 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1LMNA, CASP3, SNX5
2MP:00053779.0PSAP, CASP3, LMNA
3MP:00053798.5PSAP, CASP3, FANCA, FANCG, LMNA
4MP:00053908.4PSAP, CASP3, LMNA, FANCA
5MP:00053698.2CASP3, PSAP, VIM, LMNA
6MP:00053918.1PSAP, FANCA, VIM, LMNA, CASP3
7MP:00053888.1PSAP, VIM, LMNA, CASP3, SNX5
8MP:00053858.0LMNA, VIM, FANCA, PSAP, CASP3
9MP:00053897.8CASP3, LMNA, VIM, FANCG, FANCA, PSAP
10MP:00053847.7FANCG, VIM, FANCA, PSAP, CASP3, LMNA
11MP:00053977.7SNX5, PSAP, FANCA, VIM, LMNA, CASP3
12MP:00053877.7SNX5, PSAP, CASP3, LMNA, VIM
13MP:00053787.6LMNA, PSAP, VIM, FANCA, SNX5, CASP3
14MP:00107687.5CASP3, SNX5, PSAP, FANCA, VIM, LMNA

Publications for Fanconi Anemia, Complementation Group a

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52PubMed
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Articles related to Fanconi Anemia, Complementation Group a:

(show all 12)
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
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. (22194614)
2012
4
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. (19367192)
2009
5
Fanconi anemia complementation group A cells are hypersensitive to chromium(VI)-induced toxicity. (12426130)
2002
6
Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. (11161829)
2001
7
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. (10753211)
2000
8
A deficiency in a 230 kDa DNA repair protein in fanconi anemia complementation group A cells is corrected by the FANCA cDNA. (10469633)
1999
9
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (10600472)
1999
10
Intracellular localization of the Fanconi anemia complementation group A protein. (10364463)
1999
11
The Fanconi anemia complementation group A protein contains a peroxidase domain. (9608546)
1998
12
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

Variations for Fanconi Anemia, Complementation Group a

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group a:

64 (show all 29)
id Symbol AA change Variation ID 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

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

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1FANCAFANCA, 274-BP DELdeletionPathogenic
2FANCANM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs)deletionPathogenicrs397507552GRCh37Chr 16, 89858442: 89858445
3FANCAFANCA, 156-BP DEL, NT1515deletionPathogenic
4FANCAFANCA, 113-BP DEL, NT938deletionPathogenic
5FANCAFANCA, 1-NT DEL, 1615GdeletionPathogenic
6FANCAFANCA, 1-NT DEL, 3559GdeletionPathogenic
7FANCAFANCA, EX12-31DELdeletionPathogenic
8FANCAFANCA, 1-BP DEL, 1609TdeletionPathogenic
9FANCANM_000135.2(FANCA): c.513G> A (p.Trp171Ter)single nucleotide variantPathogenicrs121907930GRCh37Chr 16, 89877124: 89877124
10FANCAFANCA, 5-BP DEL, NT3720deletionPathogenic
11NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del)deletionPathogenicrs397507553GRCh37Chr 16, 89807250: 89807252

Expression for genes affiliated with Fanconi Anemia, Complementation Group a

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 55Reactome, 60Thomson Reuters
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Pathways related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FANCG, FANCA
2
Show member pathways
9.8FANCA, FANCG
3
Show member pathways
9.8FANCA, FANCG
49.8FANCA, FANCG
5
Show member pathways
9.4CASP3, LMNA
6
Show member pathways
9.2VIM, CASP3
7
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.6CASP3, VIM, LMNA
8
Show member pathways
8.6CASP3, VIM, LMNA
9
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
8.6LMNA, VIM, CASP3

Compounds for genes affiliated with Fanconi Anemia, Complementation Group a

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45Novoseek, 24HMDB, 51PharmGKB, 61Tocris Bioscience, 11DrugBank, 29IUPHAR
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Compounds related to Fanconi Anemia, Complementation Group a according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1diepoxybutane4510.1FANCA, FANCG
2mitomycin c459.5FANCA, FANCG
37-ketocholesterol45 2410.4CASP3, VIM
4cisplatin45 51 61 1112.4FANCG, FANCA, CASP3
5n-(4-hydroxyphenyl)retinamide459.3VIM, CASP3
6roscovitine459.3CASP3, VIM
7ganglioside459.1PSAP, VIM
8phosphatidylserine45 29 1111.0CASP3, PSAP, VIM
9wortmannin458.9CASP3, PSAP, VIM
10h2o2458.8VIM, FANCG, FANCA, CASP3
11leucine458.6FANCA, FANCG, VIM, LMNA
12alanine458.5LMNA, VIM, FANCG, FANCA
13serine458.2CASP3, PSAP, VIM, LMNA

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:0432409.7FANCA, FANCG
2intermediate filamentGO:0058829.0VIM, LMNA
3nucleoplasmGO:0056548.4CASP3, FANCA, FANCG, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1apoptotic processGO:0069158.6CASP3, VIM, LMNA
2cellular component disassembly involved in execution phase of apoptosisGO:0069218.3CASP3, VIM, LMNA

Products for genes affiliated with Fanconi Anemia, Complementation Group a

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Sources for Fanconi Anemia, Complementation Group a

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet