FA
MCID: FNC001
MIFTS: 66

Fanconi's Anemia (FA) malady

Summaries for Fanconi's Anemia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. people with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or x-linked recessive fashion. last updated: 1/4/2012

MalaCards: Fanconi's Anemia, also known as fanconi anemia, is related to deficiency anemia and bloom syndrome. An important gene associated with Fanconi's Anemia is FANCL (Fanconi anemia, complementation group L), and among its related pathways are Fanconi anemia pathway and Nucleotide Excision Repair. The compounds mitomycin c and diepoxybutane have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain, and related mouse phenotypes are reproductive system and cellular.

Genetics Home Reference:21 Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.

Wikipedia:64 Fanconi anemia (FA) is a genetic disease with an incidence of 1 per 350,000 births, with a higher... more...

Description from OMIM:47 227650,227645

GeneReviews summary for fa

Aliases & Classifications for Fanconi's Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 31LifeMap Discovery™, 64Wikipedia, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS, 10DISEASES, 45Novoseek, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Aliases & Descriptions:

fanconi's anemia 8 43 31
fanconi anemia 64 19 43 20 22 21 61
fanconi pancytopenia 19 43 21
fanconis anemia 10 45
fa 64 21
fanconi hypoplastic anemia 21
panmyelopathy, fanconi 8
fanconi panmyelopathy 21


External Ids:

Disease Ontology8 DOID:13636
SNOMED-CT57 30575002
MeSH35 D005199
NCIt40 C62505

Related Diseases for Fanconi's Anemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fanconi's Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 475)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia30.7FANCM, BRIP1, FANCA, FANCC, FANCB, FANCD2
2bloom syndrome30.7BRCA2
3squamous cell carcinoma30.6FANCC, FANCD2, FANCG, PARP1, FANCA
4ataxia telangiectasia30.5BRCA2, FANCC, FANCD2, PARP1
5aplastic anemia30.4C19orf40, BRCA2, FANCG, FANCL, PALB2
6nijmegen breakage syndrome30.4FANCD2
7squamous cell carcinoma of the head and neck29.8FANCA, FANCC, FANCD2, FANCG, FANCF, FANCE
8fanconi anemia, complementation group a10.9
9fanconi anemia, complementation group c10.9
10fanconi anemia, complementation group g10.9
11fanconi anemia, complementation group f10.9
12fanconi anemia, complementation group p10.8
13fanconi syndrome10.7
14fanconi anemia, complementation group i10.7
15hepatitis c10.6
16fanconi anemia, complementation group m10.6
17hepatitis a10.6
18fanconi anemia, complementation group b10.6
19autoimmune lymphoproliferative syndrome10.6
20fanconi anemia, complementation group l10.6
21fanconi anemia, complementation group e10.6
22adenocarcinoma10.6
23systemic lupus erythematosus10.5
24breast cancer susceptibility10.5
25arthritis10.5
26n syndrome10.5
27fanconi anemia, complementation group n10.5
28fanconi anemia, complementation group o10.5
29hepatitis e10.5
30acute leukemia10.4
31thyroiditis10.4
32silicosis10.4
33fetal alcohol syndrome10.4
34graft versus host disease10.4
35ataxia10.4
36viral hepatitis10.4
37dyskeratosis congenita10.3
38xeroderma pigmentosum10.3
39wilms tumor10.3
40familial breast cancer10.3
41fanconi anemia, complementation group d210.3
42fanconi anemia, complementation group d110.3
43fanconi anemia, complementation group q10.3
44fanconi anemia, complementation group j10.3
45graves' disease10.3
46astrocytoma10.3
47hepatitis c virus10.3
48autoimmune thyroiditis10.3
49bladder carcinoma10.3
50acute myeloid leukemia10.3

Graphical network of the top 20 diseases related to Fanconi's Anemia:



Diseases related to fanconi's anemia

Clinical Features for Fanconi's Anemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

227650,227645

Drugs & Therapeutics for Fanconi's Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fanconi's Anemia

Drug clinical trials:

Search ClinicalTrials for Fanconi's Anemia

Search NIH Clinical Center for Fanconi's Anemia

Search CenterWatch for Fanconi's Anemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Fanconi's Anemia cell therapies at LifeMap Discovery.

Genetic Tests for Fanconi's Anemia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Fanconi's Anemia:

id Genetic test Affiliating Genes
1 Fanconi Anemia20
2 Fanconi Anemia Multi-gene Panels20
3 Fanconi's Anemia22

Anatomical Context for Fanconi's Anemia

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Fanconi's Anemia:

33
Bone marrow, Whole blood, Brain, Lung, Breast, Skin, Myeloid, Nk cells, T cells, Tongue, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Fanconi's Anemia:
id TissueAnatomical CompartmentCell Relevance
1 BloodHematopoietic Bone MarrowHematopoietic Stem Cells Potential therapeutic candidate

Animal Models for Fanconi's Anemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fanconi's Anemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538911.5BRCA2, PARP1, RAD51C, FANCM, FANCL, FANCG
2MP:000538411.3FANCD2, FANCG, FANCL, FANCM, ZBTB32, PARP1
3MP:000537911.3BRCA2, FANCA, FANCC, FANCD2, FANCG, FANCL
4MP:000200611.0BRCA2, FANCA, FANCD2, FANCM, PALB2

Publications for Fanconi's Anemia

Sources:
51PubMed
See all sources

Articles related to Fanconi's Anemia:

(show top 50)    (show all 319)
idTitleAuthorsYear
1
A study of facial pattern in patients with fanconi anemia. (24405422)
2014
2
Salivary detection of periodontopathic bacteria in Fanconi's anemia patients. (24055631)
2013
3
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. (23093618)
2013
4
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. (24260277)
2013
5
Human Fanconi Anemia Complementation Group A Protein Stimulates the 5' Flap Endonuclease Activity of FEN1. (24349332)
2013
6
Silencing of fanconi anemia complementation group f exhibits potent chemosensitization of mitomycin C activity in breast cancer cells. (24155758)
2013
7
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. (22907656)
2012
8
Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome. (21240188)
2011
9
Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. (21567085)
2011
10
Fanconi anemia and breast cancer susceptibility meet again. (20428093)
2010
11
Wilms tumor, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. (19856400)
2010
12
Convergence of Rad6/Rad18 and Fanconi anemia tumor suppressor pathways upon DNA damage. (20967207)
2010
13
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. (20022637)
2010
14
Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. (18841560)
2008
15
Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group. (18771529)
2008
16
Deficiency in incisions produced by XPF at the site of a DNA interstrand cross-link in Fanconi anemia cells. (18020456)
2007
17
Comparative study of chronological, bone, and dental age in Fanconi's anemia. (16679927)
2006
18
Epstein-Barr virus-associated hemophagocytic syndrome as first presentation of Fanconi anemia. (15926162)
2005
19
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. (15451479)
2004
20
Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients. (15162062)
2004
21
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. (15070707)
2004
22
Oxidative stress/damage induces multimerization and interaction of Fanconi anemia proteins. (15138265)
2004
23
Fanconi's anemia cell lines show distinct mechanisms of cell death in response to mitomycin C or agonistic anti-Fas antibodies. (14754601)
2004
24
Fanconi anemia type C-deficient hematopoietic stem/progenitor cells exhibit aberrant cell cycle control. (12763929)
2003
25
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. (14559878)
2003
26
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. (12692539)
2003
27
Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. (12913077)
2003
28
Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts. (12748186)
2003
29
The effects of the Fanconi anemia zinc finger (FAZF) on cell cycle, apoptosis, and proliferation are differentiation stage-specific. (11986317)
2002
30
Fanconi anemia protein complex is a novel target of the IKK signalsome. (12210728)
2002
31
The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. (10848598)
2000
32
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. (10753211)
2000
33
Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. (10551855)
1999
34
Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: a view from the window of Fanconi anemia. (10557053)
1999
35
Squamous cell carcinoma of the supraglottic larynx in a patient with Fanconi's anemia. (9560105)
1998
36
Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase. (9187128)
1997
37
Superoxide dismutase and other biochemical disorders in a family with Fanconi's anemia. (8869370)
1995
38
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
39
Fanconi's anemia: a clinico-hematological and cytogenetic study. (1802836)
1991
40
Lack of mutations in the TP53 tumor suppressor gene exons 5 to 8 in Fanconi's anemia. (1803324)
1991
41
Deoxyribonucleoside triphosphate pool levels in three cell strains of human chromosome instability syndromes: ataxia telangiectasia (GM2052), Bloom's syndrome (GM1492), and Fanconi's anemia (GM368). (2337882)
1990
42
Cytogenetic toxicity of paraquat and streptonigrin in Fanconi's anemia. (3026612)
1987
43
Inhibition of DNA synthesis by psoralen-induced lesions in xeroderma pigmentosum and Fanconi's anemia fibroblasts. (4011708)
1985
44
Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. (6330231)
1984
45
Cytogenetic toxicity of D2O in human lymphocyte cultures. Increased sensitivity in Fanconi's anemia. (6305704)
1983
46
Cytogenetic and flow cytometric studies of cells from patients with Fanconi's anemia. (7116934)
1982
47
Increased radiosensitivity of a subpopulation ot T-lymphocyte progenitors from patients with Fanconi's anemia. (6971665)
1981
48
Squamous cell carcinomas in Fanconi's anemia. (7259229)
1981
49
Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi's anemia. Studies of sister chromatid exchanges, chromosome aberrations, and kinetics of cell division. (89073)
1979
50
Squamous cell carcinomas in Fanconi's anemia. (5107920)
1971

Genetic Variations for Fanconi's Anemia

Expression for genes affiliated with Fanconi's Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fanconi's Anemia

Search GEO for disease gene expression data for Fanconi's Anemia.

Pathways for genes affiliated with Fanconi's Anemia

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore
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Pathways related to Fanconi's Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
112.5PALB2, FANCB, FANCD2, FANCG, FANCF, FANCE
2
Hide members
11.9BRCA2, FANCA, FANCC, FANCB, FANCD2, FANCG
3
Hide members
11.8FANCF, FANCE, FANCL, FANCI, FANCM, ZBTB32
411.4BRCA2, FANCA, FANCC, FANCD2, FANCG, FANCF
5
Hide members
11.3BRCA2, FANCA, FANCC, FANCD2, FANCG, FANCF
611.0FANCB, FANCD2, FANCG, FANCL, RAD51C
7
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.9FANCL, FANCD2, BRIP1, BRCA2

Compounds for genes affiliated with Fanconi's Anemia

Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 11DrugBank
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Compounds related to Fanconi's Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mitomycin c4511.5FANCL, BRCA2, FANCA, FANCC, FANCD2, FANCG
2diepoxybutane4511.0FANCG, FANCD2, FANCC, FANCA
3cisplatin45 50 60 1114.0PARP1, FANCG, FANCD2, FANCA, BRCA2
4camptothecin45 60 1112.8PARP1, RAD51C, BRCA2
5nu102545 1111.8BRCA2, PARP1
6melphalan45 1111.7FANCC, FANCD2, PARP1
73-aminobenzamide4510.4PARP1, BRCA2

GO Terms for genes affiliated with Fanconi's Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Fanconi's Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00565412.3C19orf40, C17orf70, BRCA2, FANCA, PALB2, PARP1
2Fanconi anaemia nuclear complexGO:04324011.7C19orf40, STRA13, FANCM, FANCL, FANCE, FANCF
3nucleusGO:00563411.7C19orf40, BRCA2, BRIP1, FANCA, FANCC, FANCE
4FANCM-MHF complexGO:07182110.5APITD1, FANCM, STRA13

Biological processes related to Fanconi's Anemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00628112.8PALB2, FANCD2, FANCB, FANCC, FANCA, APITD1
2replication fork processingGO:03129711.0APITD1, FANCM, STRA13
3resolution of meiotic recombination intermediatesGO:00071211.0APITD1, FANCM, STRA13
4positive regulation of protein ubiquitinationGO:03139811.0APITD1, FANCI, STRA13
5double-strand break repairGO:00630210.9PARP1, BRIP1, BRCA2
6inner cell mass cell proliferationGO:00183310.8BRCA2, PALB2
7male meiosis IGO:00714110.7RAD51C, BRCA2
8response to gamma radiationGO:01033210.7FANCD2, BRCA2
9gamete generationGO:00727610.6FANCL, FANCD2
10female gonad developmentGO:00858510.4FANCA, BRCA2

Molecular functions related to Fanconi's Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.3C17orf70, FANCM, FANCI, FANCE, FANCF, FANCG
2DNA bindingGO:00367711.7PARP1, RAD51C, ZBTB32, STRA13, FANCM, FANCI

Products for genes affiliated with Fanconi's Anemia

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Sources for Fanconi's Anemia

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