FA
MCID: FNC001
MIFTS: 67

Fanconi's Anemia (FA) malady

Summaries for Fanconi's Anemia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 breast cancer and deficiency anemia. 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, bone marrow and testes, 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:63 Fanconi anemia (FA) is a genetic disease with an incidence of 1 per 350,000 births, with a higher... more...

Description from OMIM:46 227650,227645

GeneReviews summary for fa

Aliases & Classifications for Fanconi's Anemia

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

fanconi's anemia 8 42 30
fanconi anemia 63 19 42 20 22 21 60
fanconi pancytopenia 19 42 21
fanconis anemia 10 44
fa 63 21
fanconi hypoplastic anemia 21
panmyelopathy, fanconi 8
fanconi panmyelopathy 21


External Ids:

Disease Ontology8 DOID:13636
SNOMED-CT56 30575002
MeSH34 D005199
NCIt39 C62505

Related Diseases for Fanconi's Anemia

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17GeneCards, 18GeneDecks
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Diseases in the Fanconi's Anemia family:

Fanca-Related Fanconi Anemia Fancb-Related Fanconi Anemia
Brca2-Related Fanconi Anemia Fancd2-Related Fanconi Anemia
Fance-Related Fanconi Anemia Fancf-Related Fanconi Anemia
Fancg-Related Fanconi Anemia Fanci-Related Fanconi Anemia
Brip1-Related Fanconi Anemia Fancl-Related Fanconi Anemia
Fancc-Related Fanconi Anemia Fancm-Related Fanconi Anemia
Palb2-Related Fanconi Anemia Rad51c-Related Fanconi Anemia
Slx4-Related Fanconi Anemia

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

(show top 50)    (show all 570)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0BRIP1, BRCA2
2deficiency anemia30.9FANCM, BRIP1, FANCA, FANCC, FANCB, FANCD2
3squamous cell carcinoma30.6FANCC, FANCD2, FANCG, PARP1, FANCA
4bloom syndrome30.6BRCA2
5ataxia telangiectasia30.5BRCA2, FANCC, FANCD2, PARP1
6ovarian cancer30.4BRCA2, BRIP1, FANCD2, FANCF, RAD51C, PARP1
7aplastic anemia30.4C19orf40, BRCA2, FANCG, FANCL, PALB2
8pancreatic cancer30.3BRCA2, FANCC, FANCG, PARP1
9pancreatitis30.3BRCA2
10nijmegen breakage syndrome30.3FANCD2
11cervical cancer30.0PARP1
12squamous cell carcinoma of the head and neck29.8FANCA, FANCC, FANCD2, FANCG, FANCF, FANCE
13fanconi syndrome10.7
14prostatitis10.6
15autoimmune lymphoproliferative syndrome10.6
16leukemia10.5
17adenocarcinoma10.5
18prostate cancer10.5
19lupus erythematosus10.5
20hepatitis c10.5
21systemic lupus erythematosus10.5
22colon cancer10.5
23fanconi anemia, complementation group a10.5
24esophagitis10.5
25arthritis10.5
26renal cell carcinoma10.5
27rheumatoid arthritis10.4
28acute leukemia10.4
29neuronitis10.4
30osteosarcoma10.4
31autoimmune thyroiditis10.4
32obesity10.4
33silicosis10.4
34hepatitis b10.4
35fetal alcohol syndrome10.4
36fanconi anemia, complementation group e10.4
37fanconi anemia, complementation group c10.4
38graft versus host disease10.4
39liver disease10.3
40viral hepatitis10.3
41dyskeratosis congenita10.3
42xeroderma pigmentosum10.3
43myeloid leukemia10.3
44fanconi anemia, complementation group l10.3
45fanconi anemia, complementation group d210.3
46fanconi anemia, complementation group g10.3
47fanconi anemia, complementation group f10.3
48fanconi anemia, complementation group d110.3
49fanconi anemia, complementation group m10.3
50fanconi anemia, complementation group i10.3

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



Diseases related to fanconi's anemia

Clinical Features for Fanconi's Anemia

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46OMIM
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Clinical features from OMIM:

227650,227645

Drugs & Therapeutics for Fanconi's Anemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Fanconi's Anemia:

32
Bone, Bone marrow, Testes, Tongue, Brain, Breast, Myeloid, Ovary, Skin, Liver, Kidney, 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

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36MGI
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MGI Mouse Phenotypes related to Fanconi's Anemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538911.5PARP1, BRCA2, FANCA, FANCC, FANCD2, FANCG
2MP:000538411.3BRCA2, FANCA, FANCC, FANCD2, FANCG, FANCL
3MP:000537911.3BRCA2, FANCA, FANCC, FANCD2, FANCG, FANCL
4MP:000200611.0FANCA, FANCD2, FANCM, PALB2, BRCA2

Publications for Fanconi's Anemia

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50PubMed
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Articles related to Fanconi's Anemia:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
A Study of Facial Pattern in Patients With Fanconi's Anemia. (22937761)
2012
2
New insights into redox response modulation in Fanconi's anemia cells by hydrogen peroxide and glutathione depletors. (22578062)
2012
3
Fanconi's anemia. (18797076)
2008
4
Interplay between superoxide and nitric oxide in thalassemia and Fanconi's anemia. (16540423)
2006
5
Fludarabine-based conditioning for allogeneic stem cell transplantation for multiply transfused patients with Fanconi's anemia. (15640819)
2005
6
Fanconi's anemia cell lines show distinct mechanisms of cell death in response to mitomycin C or agonistic anti-Fas antibodies. (14754601)
2004
7
Squamous cell carcinoma of the tongue in a patient with Fanconi's anemia: a case report and review of the literature. (12029542)
2002
8
Adenocarcinoma of the stomach in Fanconi's anemia. (12454708)
2002
9
Hydrogen peroxide: effects on DNA, chromosomes, cell cycle and apoptosis induction in Fanconi's anemia cell lines. (11320156)
2001
10
Gene transfer for the eventual treatment of Fanconi's anemia. (9565158)
1998
11
Fanconi's anemia: what have we learned from the genes so far? (9612799)
1998
12
Fanconi's anemia cells are relatively resistant to H2O2-induced damage. (9830794)
1998
13
Brain tumors in patients with Fanconi's anemia. (8193701)
1994
14
Deficient gene specific repair of cisplatin-induced lesions in Xeroderma pigmentosum and Fanconi's anemia cell lines. (8504485)
1993
15
Fanconi's anemia. (1937712)
1991
16
Hepatocellular carcinoma and squamous cell carcinoma in a patient with Fanconi's anemia. (1652289)
1991
17
Hepatocellular carcinoma in Fanconi's anemia treated with androgen and corticosteroid. (1655018)
1991
18
Molecular analysis by electron microscopy of the removal of psoralen-photoinduced DNA cross-links in normal and Fanconi's anemia fibroblasts. (2317828)
1990
19
Squamous cell carcinoma of the tongue associated with Fanconi's anemia: MR characteristics. (2349018)
1990
20
Chronic myelomonocytic leukemia with chromosomal changes involving 1p36 and hepatocellular carcinoma in a case of Fanconi's anemia. (2543594)
1989
21
Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment. (3804331)
1987
22
Heritable disorders of DNA repair: xeroderma pigmentosum and Fanconi's anemia. (3595188)
1987
23
Pancytopenia secondary to primary malignant lymphoma of bone marrow as the first hematologic manifestation of the Estren-Dameshek variant of Fanconi's anemia. (3439583)
1987
24
Hepatocellular carcinoma in an 11-year-old girl with Fanconi's anemia. Report of a case and review of the literature. (3026193)
1986
25
Fanconi's anemia. Clinical study of six cases. (3766907)
1986
26
Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis. (2985019)
1985
27
Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7. (6733270)
1984
28
Red blood cell hexokinase in Fanconi's anemia. (6430000)
1984
29
Association of Fanconi's anemia and squamous-cell carcinoma of the lower female genital tract with condyloma acuminatum. A report of two cases. (6481701)
1984
30
Fanconi's anemia treated by allogeneic marrow transplantation. (6338978)
1983
31
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes. (6840755)
1983
32
Cytogenetic toxicity of D2O in human lymphocyte cultures. Increased sensitivity in Fanconi's anemia. (6305704)
1983
33
Cytogenetic and flow cytometric studies of cells from patients with Fanconi's anemia. (7116934)
1982
34
Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. (6809308)
1982
35
Fanconi's anemia. Tumor-like warts, hyperpigmentation associated with deranged keratinocytes, and depressed cell-mediated immunity. (6978105)
1982
36
Multiple squamous-cell carcinomas in Fanconi's anemia. (7093916)
1982
37
Increased radiosensitivity of a subpopulation ot T-lymphocyte progenitors from patients with Fanconi's anemia. (6971665)
1981
38
Temporal bone histopathologic features in Fanconi's anemia syndrome. (6966149)
1980
39
Prevention of chromosomal breakage in Fanconi's anemia by cocultivation with normal cells. (7450773)
1980
40
Malignant mucosal change in Fanconi's anemia. (6930466)
1980
41
Technetium colloid bone marrow imaging in Fanconi's anemia. (492837)
1979
42
G2 chromosomal radiosensitivity in Fanconi's anemia. (522866)
1979
43
Indication of primary immune deficiency in Fanconi's anemia. (303430)
1977
44
Cross-link repair in human cells and its possible defect in Fanconi's anemia cells. (894713)
1977
45
Localization chromatid breaks in Fanconi's anemia, using three consecutive stains. (69603)
1977
46
Nonrandom distribution of chromosome breaks in Fanconi's anemia. (4134387)
1973
47
Cytogenetic findings in a parent of a patient with Fanconi's anemia. (5084382)
1972
48
Fanconi's anemia with growth hormone deficiency. (5091272)
1971
49
Roentgenographic findings in Fanconi's anemia. (6059603)
1967
50
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). (5938027)
1966

Genetic Variations for Fanconi's Anemia

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Expression for genes affiliated with Fanconi's Anemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 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
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10.9FANCL, FANCD2, BRIP1, BRCA2

Compounds for genes affiliated with Fanconi's Anemia

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank
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Compounds related to Fanconi's Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mitomycin c4411.5FANCL, BRCA2, FANCA, FANCC, FANCD2, FANCG
2diepoxybutane4411.0FANCG, FANCD2, FANCC, FANCA
3cisplatin44 49 59 1114.0PARP1, FANCG, FANCD2, FANCA, BRCA2
4camptothecin44 59 1112.8PARP1, RAD51C, BRCA2
5nu102544 1111.8BRCA2, PARP1
6melphalan44 1111.7FANCC, FANCD2, PARP1
73-aminobenzamide4410.4PARP1, BRCA2

GO Terms for genes affiliated with Fanconi's Anemia

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16Gene Ontology
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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:00551512.3PALB2, FANCB, FANCC, FANCA, APITD1, BRIP1
2DNA bindingGO:00367711.7C19orf40, BRIP1, APITD1, FANCI, FANCM, STRA13

Products for genes affiliated with Fanconi's Anemia

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Sources for Fanconi's Anemia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet