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, Breast, Brain, Liver, Kidney, Ovary, Skin, Myeloid, 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:000538911.5BRCA2, 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

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50PubMed
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Articles related to Fanconi's Anemia:

(show top 50)    (show all 276)
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
Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia. (24052713)
2011
4
Vulvar squamous cell carcinoma associated with Fanconi's anemia. (20217286)
2010
5
Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal. (20038942)
2010
6
Allogeneic stem cell transplantation in patients with Fanconi's anemia and myelodysplasia or leukemia utilizing low-dose cyclophosphamide and total body irradiation. (14578932)
2004
7
Vulvar cancer with Fanconi's anemia and neutropenic fever: a case report. (15098894)
2004
8
Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions. (15495253)
2004
9
Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation. (14982482)
2004
10
Allergic and immunologic parameters in patients with Fanconi's anemia. (11574758)
2001
11
Growth hormone deficiency caused by pituitary stalk interruption in Fanconi's anemia. (11148528)
2001
12
Squamous cell carcinoma of the tongue after bone marrow transplantation in a patient with Fanconi's anemia. (11117702)
2000
13
Results of allogeneic BMT in 16 patients with Fanconi's anemia. (10871742)
2000
14
Leukemic transformation in Fanconi's anemia. (10745320)
1999
15
Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita. (9372117)
1996
16
Identification and treatment of late onset Fanconi's anemia. (8647521)
1995
17
Acute lymphoblastic leukemia in Fanconi's anemia. (8250016)
1994
18
Anomalous plasma concentrations and impaired secretion of growth factors in Fanconi's anemia. (7691320)
1993
19
Production of interleukin 6, leukemia inhibitory factor and granulocyte-macrophage colony stimulating factor by peripheral blood mononuclear cells in Fanconi's anemia. (8401257)
1993
20
Images in clinical medicine. Some features of Fanconi's anemia. (8377781)
1993
21
Hematologic management of a patient with Fanconi's anemia undergoing bone grafting and implant surgery. (1531854)
1992
22
Leukemia and preleukemia in Fanconi's anemia. (1551092)
1992
23
No abnormalities in the NAD+ ADP-ribosyltransferase (polymerizing) gene of transformed cells from a Fanconi's anemia patient. (1511990)
1992
24
Spontaneous improvement in Fanconi's anemia. (1780193)
1991
25
The Italian contribution to the study of Fanconi's anemia. (2080091)
1990
26
Presentation and outcome of 25 cases of Fanconi's anemia. (2751070)
1989
27
Acute lymphoblastic leukemia following treatment with human growth hormone in a boy with possible preanemic Fanconi's anemia. (2921816)
1989
28
Hematopoietic reconstitution in a patient with Fanconi's anemia by means of umbilical-cord blood from an HLA-identical sibling. (2571931)
1989
29
Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia. (2816920)
1989
30
A test for Fanconi's anemia. (3107630)
1987
31
Comparison of the sensitivity of Fanconi's anemia and normal fibroblasts to the induction of sister-chromatid exchanges by photoaddition of mono- and bi-functional psoralens. (3755219)
1986
32
Estimation of highly increased concentrations of fetal hemoglobin in Fanconi's anemia. (2412730)
1985
33
Gonadal function in two siblings with Fanconi's anemia. (6538869)
1984
34
Complementation studies between Fanconi's anemia cells with different DNA repair characteristics. (6409800)
1983
35
The association of Fanconi's anemia and squamous cell carcinoma. (6347359)
1983
36
Defective repair of mitomycin C crosslinks in Fanconi's anemia and loss in confluent normal human and xeroderma pigmentosum cells. (6818994)
1982
37
The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. (6183057)
1982
38
Squamous cell carcinomas in Fanconi's anemia. (7259229)
1981
39
Sister chromatid exchanges in bone marrow cells from a patient with Fanconi's anemia. (6785164)
1981
40
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids. (7203484)
1980
41
Deficiency of DNA ligase activity in Fanconi's anemia. (730179)
1978
42
Effect of superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anemia. (914646)
1977
43
Study of ultraviolet repair & spontaneous DNA strand breaks in Fanconi's anemia cells. (614195)
1977
44
Fanconi's anemia. II. Are multiple endocrine insufficiencies a substantial part of the disease? (1103564)
1975
45
Multiple neoplasms in two siblings with a variant form of Fanconi's anemia. (171048)
1975
46
Letter: Fanconi's anemia in offspring of patient with congenital radial and carpal hypoplasia. (1134524)
1975
47
Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution. (4839030)
1974
48
Squamous cell carcinomas in Fanconi's anemia. (5107920)
1971
49
Fanconi's anemia. Report of 3 cases. (5823633)
1969
50
Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). II. A discussion of the cytogenetic findings in Fanconi's anemia. (6074579)
1967

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
Hide members
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:00551512.3C17orf70, 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

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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