FA
MCID: FNC001
MIFTS: 65

Fanconi's Anemia (FA) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Fanconi's Anemia

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Fanconi anemia is an inherited condition that affects the bone marrow, resultingĀ 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 leukemia. An important gene associated with Fanconi's Anemia is FANCL (Fanconi anemia, complementation group L), and among its related pathways are DNA damage ATM ATR regulation of G1 S checkpoint and Homologous recombination. The compounds cisplatin and diepoxybutane have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Genetics Home Reference:22 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:66 Fanconi anemia (FA) is a genetic disease with an incidence of 1 per 350,000 births, with a higher... more...

Description from OMIM:48 227650,227645

GeneReviews summary for fa

Aliases & Classifications for Fanconi's Anemia

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9Disease Ontology, 44NIH Rare Diseases, 32LifeMap Discoveryā„¢, 66Wikipedia, 20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 63UMLS, 11DISEASES, 46Novoseek, 59SNOMED-CT, 48OMIM, 41NCIt, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

fanconi's anemia 9 44 32
fanconi anemia 9 66 20 44 21 23 22 63
fanconi pancytopenia 20 44 22
fanconis anemia 11 46
fa 66 22
fanconi hypoplastic anemia 22
panmyelopathy, fanconi 9
fanconi panmyelopathy 22


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Disease Ontology9 DOID:13636
SNOMED-CT59 30575002
NCIt41 C62505
MeSH36 D005199

Related Diseases for Fanconi's Anemia

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18GeneCards, 19GeneDecks
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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 488)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.1BRCA2, BRIP1
2leukemia30.8FANCD2, FANCF, FANCC, FANCB, BRCA2
3ataxia telangiectasia30.6FANCD2, FANCC, BRCA2
4pancreatic cancer30.4BRCA2, FANCC, FANCG
5aplastic anemia30.4C19orf40, BRCA2, PALB2, FANCG, FANCL
6ovarian cancer30.3BRIP1, BRCA2, PALB2, FANCF, FANCD2, RAD51C
7squamous cell carcinoma of the head and neck30.2FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
8fanconi anemia, complementation group a10.7
9prostatitis10.6
10autoimmune lymphoproliferative syndrome10.6
11endotheliitis10.6
12fanconi anemia, complementation group c10.6
13adenocarcinoma10.6
14lung cancer10.5
15lupus erythematosus10.5
16prostate cancer10.5
17systemic lupus erythematosus10.5
18colon cancer10.5
19esophagitis10.5
20hepatitis c10.5
21arthritis10.5
22renal cell carcinoma10.5
23osteosarcoma10.5
24fanconi anemia, complementation group e10.5
25fanconi anemia, complementation group f10.5
26neuronitis10.5
27rheumatoid arthritis10.5
28autoimmune lymphoproliferative syndrome, type ib10.5
29silicosis10.4
30bloom syndrome10.4
31breast cancer susceptibility10.4
32fanconi anemia, complementation group m10.4
33fetal alcohol syndrome10.4
34obesity10.4
35autoimmune thyroiditis10.4
36ataxia10.4
37fanconi anemia, complementation group i10.4
38fanconi anemia, complementation group j10.4
39fanconi anemia, complementation group b10.4
40hepatitis b10.4
41hiv-110.4
42t-cell leukemia10.4
43graft versus host disease10.4
44b-cell lymphomas10.4
45dyskeratosis congenita10.3
46xeroderma pigmentosum10.3
47myeloid leukemia10.3
48wilms tumor10.3
49fanconi anemia, complementation group l10.3
50fanconi anemia, complementation group d210.3

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



Diseases related to fanconi's anemia

Symptoms for Fanconi's Anemia

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48OMIM
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Clinical features from OMIM:

227650,227645

Drugs & Therapeutics for Fanconi's Anemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Fanconi's Anemia:

id Genetic test Affiliating Genes
1 Fanconi Anemia21
2 Fanconi Anemia Multi-Gene Panels21
3 Fanconi's Anemia23

Anatomical Context for Fanconi's Anemia

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Fanconi's Anemia:

34
Bone, Bone marrow, Testes, Tongue, Brain, Breast, Skin, Myeloid, Kidney, Ovary, Liver, 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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38MGI
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MGI Mouse Phenotypes related to Fanconi's Anemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9BRCA2, PALB2, FANCD2, FANCM, FANCA
2MP:00053798.2SLX4, BRCA2, FANCC, FANCD2, FANCG, FANCL
3MP:00053898.1BRCA2, FANCC, FANCD2, FANCG, FANCL, FANCM
4MP:00053978.0SLX4, FANCA, FANCM, FANCD2, FANCC, BRCA2
5MP:00053847.2ZBTB32, BRCA2, PALB2, FANCC, FANCD2, FANCG

Publications for Fanconi's Anemia

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53PubMed
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Articles related to Fanconi's Anemia:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
Alternaria alternata invasive fungal infection in a patient with Fanconi's anemia after an unrelated bone marrow transplant. (23381982)
2013
2
Salivary detection of periodontopathic bacteria in Fanconi's anemia patients. (24055631)
2013
3
Squamous cell carcinoma of base of tongue in a patient with Fanconi's anemia treated with radiation therapy: case report and review of literature. (19672872)
2010
4
Susceptibility pathways in Fanconi's anemia and breast cancer. (20484397)
2010
5
Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi's anemia and VACTERL syndrome. (16410081)
2006
6
Gefitinib trial in a fanconi's anemia patient with multiple squamous cell carcinomas and hepatocellular carcinoma. (19956375)
2005
7
Topics in pediatric leukemia--Fanconi's anemia: new insights. (16369402)
2005
8
Fanconi's anemia and squamous cell carcinoma of the larynx. (12692683)
2003
9
Squamous cell carcinoma of the tongue in a patient with Fanconi's anemia: a case report and review of the literature. (12029542)
2002
10
Hydrogen peroxide: effects on DNA, chromosomes, cell cycle and apoptosis induction in Fanconi's anemia cell lines. (11320156)
2001
11
Squamous cell carcinoma of the tongue after bone marrow transplantation in a patient with Fanconi's anemia. (11117702)
2000
12
Ultrastructural observations on the cells of a patient with Fanconi's anemia transforming to acute leukemia. (9660722)
1998
13
Squamous cell carcinoma of the supraglottic larynx in a patient with Fanconi's anemia. (9560105)
1998
14
Fanconi's anemia and primary hypothyroidism. (17341919)
1998
15
6,4,4'-Trimethylangelicin photoadduct immunodetection in DNA: induction and repair in Fanconi's anemia and normal human fibroblasts. (9203385)
1997
16
Anomalous plasma concentrations and impaired secretion of growth factors in Fanconi's anemia. (7691320)
1993
17
Fanconi's anemia. Current concepts. (1530123)
1992
18
Hematologic management of a patient with Fanconi's anemia undergoing bone grafting and implant surgery. (1531854)
1992
19
Fanconi's anemia: a clinico-hematological and cytogenetic study. (1802836)
1991
20
Lack of mutations in the TP53 tumor suppressor gene exons 5 to 8 in Fanconi's anemia. (1803324)
1991
21
Molecular analysis by electron microscopy of the removal of psoralen-photoinduced DNA cross-links in normal and Fanconi's anemia fibroblasts. (2317828)
1990
22
Presentation and outcome of 25 cases of Fanconi's anemia. (2751070)
1989
23
An abnormal expression of a tumor-activated multigenic set in cells from cancer prone patients with inherited Fanconi's anemia (FA) and retinoblastoma (Rb). (3359423)
1988
24
Cytogenetic toxicity of paraquat and streptonigrin in Fanconi's anemia. (3026612)
1987
25
Preleukemia in Fanconi's anemia: hematopoietic cell multinuclearity, membrane duplication, and dysgranulogenesis. (3599130)
1987
26
Hepatocellular carcinoma in an 11-year-old girl with Fanconi's anemia. Report of a case and review of the literature. (3026193)
1986
27
Inhibition of DNA synthesis by psoralen-induced lesions in xeroderma pigmentosum and Fanconi's anemia fibroblasts. (4011708)
1985
28
The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes. (3934533)
1985
29
Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7. (6733270)
1984
30
Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. (6330231)
1984
31
Fanconi's anemia treated by allogeneic marrow transplantation. (6338978)
1983
32
Proliferative kinetics and mitomycin C-induced chromosome damage in Fanconi's anemia lymphocytes. (6403454)
1983
33
Normal response of fanconi's anemia cells to high concentrations of O2 as determined by alkaline elution. (7138867)
1982
34
Defective repair of mitomycin C crosslinks in Fanconi's anemia and loss in confluent normal human and xeroderma pigmentosum cells. (6818994)
1982
35
Superoxide dismutase, glutathione peroxidase and catalase in oxidative hemolysis. A study of Fanconi's anemia erythrocytes. (7103992)
1982
36
Increased radiosensitivity of a subpopulation ot T-lymphocyte progenitors from patients with Fanconi's anemia. (6971665)
1981
37
Fanconi's anemia: anomaly of enzyme passage through the nuclear membrane? Anomalous intracellular distribution of topoisomerase activity in placental extracts in a case of Fanconi's anemia. (6269989)
1981
38
Temporal bone histopathologic features in Fanconi's anemia syndrome. (6966149)
1980
39
Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts. (7450765)
1980
40
Pulmonary alveolar proteinosis associated with fanconi's anemia. (515542)
1979
41
Mutagenic effects of isonicotinic acid hydracide in Fanconi's anemia. (535889)
1979
42
Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek. (648172)
1978
43
Effect of superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anemia. (914646)
1977
44
Indication of primary immune deficiency in Fanconi's anemia. (303430)
1977
45
Multiple hepatic tumors and peliosis hepatis in Fanconi's anemia treated with androgens. (199056)
1977
46
Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution. (4839030)
1974
47
Diabetes mellitus and the gene for Fanconi's anemia. (5078250)
1972
48
Cytogenetic findings in a parent of a patient with Fanconi's anemia. (5084382)
1972
49
Angiographic demonstration of hepatoma in association with Fanconi's anemia. (4328911)
1971
50
Fanconi's anemia with growth hormone deficiency. (5091272)
1971

Variations for Fanconi's Anemia

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Expression for genes affiliated with Fanconi's Anemia

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 54QIAGEN
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Pathways related to Fanconi's Anemia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1FANCL, FANCD2
2
Show member pathways
Homologous recombination39
9.9RAD51C, BRCA2
3
Show member pathways
9.8BRCA2, BRIP1
49.4BRIP1, BRCA2, FANCD2, FANCL
59.3FANCB, FANCD2, FANCG, FANCL, RAD51C
68.9FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
7
Show member pathways
8.8BRCA2, FANCC, FANCF, FANCD2, FANCE, FANCG
8
Show member pathways
8.6BRCA2, FANCC, FANCF, FANCD2, FANCE, FANCG
9
Show member pathways
5.7C19orf40, BRCA2, PALB2, FANCB, FANCC, FANCF
10
Show member pathways
5.4ZBTB32, C17orf70, C19orf40, BRIP1, BRCA2, PALB2
114.3SLX4, BRCA2, PALB2, FANCB, FANCC, FANCF

Compounds for genes affiliated with Fanconi's Anemia

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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank
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Compounds related to Fanconi's Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cisplatin46 52 62 1212.5FANCA, FANCG, FANCD2, BRCA2
2diepoxybutane469.3FANCC, FANCD2, FANCG, FANCA
3mitomycin c468.5FANCA, BRCA2, FANCC, FANCF, FANCD2, FANCE

GO Terms for genes affiliated with Fanconi's Anemia

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17Gene Ontology
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Cellular components related to Fanconi's Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Holliday junction resolvase complexGO:0484769.4RAD51C, SLX4
2FANCM-MHF complexGO:0718219.2APITD1, FANCM, STRA13
3cytoplasmGO:0057377.8BRIP1, BRCA2, FANCC, FANCG, FANCL, FANCA
4nucleolusGO:0057307.5C17orf70, C19orf40, BRCA2, PALB2, FANCD2, FANCG
5Fanconi anaemia nuclear complexGO:0432407.1STRA13, FANCA, FANCM, FANCL, FANCG, FANCE
6nucleusGO:0056345.8ZBTB32, C17orf70, C19orf40, BRIP1, BRCA2, PALB2
7nucleoplasmGO:0056545.5RAD51C, ZBTB32, C17orf70, C19orf40, FANCA, FANCM

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1gamete generationGO:00727610.1FANCD2, FANCL
2female gonad developmentGO:00858510.0BRCA2, FANCA
3inner cell mass cell proliferationGO:0018339.9BRCA2, PALB2
4male meiosis IGO:0071419.8BRCA2, RAD51C
5DNA catabolic process, endonucleolyticGO:0007379.7SLX4, RAD51C
6nucleotide-excision repairGO:0062899.7SLX4, FANCC, BRCA2
7response to gamma radiationGO:0103329.6FANCD2, BRCA2
8resolution of meiotic recombination intermediatesGO:0007129.4STRA13, FANCM, APITD1
9replication fork processingGO:0312979.3STRA13, FANCM, APITD1
10double-strand break repair via homologous recombinationGO:0007249.3BRCA2, PALB2, RAD51C, SLX4
11positive regulation of protein ubiquitinationGO:0313989.2APITD1, FANCI, STRA13
12DNA repairGO:0062814.1SLX4, FANCC, FANCB, PALB2, BRCA2, APITD1

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

idNameGO IDScoreTop Affiliating Genes
1DNA polymerase bindingGO:07018210.0FANCD2, FANCI
2crossover junction endodeoxyribonuclease activityGO:0088219.4SLX4, RAD51C
3DNA bindingGO:0036775.9ZBTB32, C17orf70, C19orf40, APITD1, BRIP1, PALB2
4protein bindingGO:0055153.9SLX4, ZBTB32, C17orf70, C19orf40, APITD1, BRIP1

Products for genes affiliated with Fanconi's Anemia

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Sources for Fanconi's Anemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet