FA
MCID: FNC001
MIFTS: 67

Fanconi's Anemia (FA) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Fanconi's Anemia

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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 based summary: 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: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:65 Fanconi anemia (FA) is a genetic disease with an incidence of 1 per 350,000 births, with a higher... more...

Descriptions from OMIM:46 227650,227645

GeneReviews summary for fa

Aliases & Classifications for Fanconi's Anemia

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Fanconi's Anemia, Aliases & Descriptions:

Name: Fanconi's Anemia 30 8 42
Fanconi Anemia 8 65 19 42 20 22 21 62
Fanconi Pancytopenia 19 42 21 62
Fanconi Hypoplastic Anemia 21 62
 
Fanconi Panmyelopathy 21 62
Fanconis Anemia 10 44
Fa 65 21
Panmyelopathy, Fanconi 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:13636
SNOMED-CT57 30575002
NCIt39 C62505
MeSH34 D005199

Related Diseases for Fanconi's Anemia

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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 498)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.2BRCA2, BRIP1
2leukemia30.8FANCD2, FANCB, FANCF, FANCC, BRCA2
3ataxia telangiectasia30.7FANCD2, BRCA2, FANCC
4pancreatic cancer30.4FANCG, FANCC, BRCA2
5aplastic anemia30.2FANCG, FANCL, PALB2, BRCA2, C19orf40
6squamous cell carcinoma of the head and neck30.0FANCC, FANCD2, FANCF, FANCE, FANCG, FANCL
7ovarian cancer29.8FANCF, RAD51C, FANCD2, PALB2, BRCA2, BRIP1
8fanconi anemia, complementation group a10.7
9prostatitis10.7
10endotheliitis10.6
11autoimmune lymphoproliferative syndrome10.6
12adenocarcinoma10.6
13lung cancer10.6
14prostate cancer10.6
15lupus erythematosus10.5
16systemic lupus erythematosus10.5
17colon cancer10.5
18esophagitis10.5
19fanconi anemia, complementation group c10.5
20arthritis10.5
21hepatitis c10.5
22renal cell carcinoma10.5
23rheumatoid arthritis10.5
24osteosarcoma10.5
25fanconi anemia, complementation group f10.5
26fanconi anemia, complementation group j10.5
27neuronitis10.5
28autoimmune lymphoproliferative syndrome, type ib10.5
29silicosis10.5
30fetal alcohol syndrome10.5
31gastric cancer10.4
32obesity10.4
33bloom syndrome10.4
34breast cancer susceptibility10.4
35fanconi anemia, complementation group e10.4
36fanconi anemia, complementation group m10.4
37hepatitis b10.4
38autoimmune thyroiditis10.4
39ataxia10.4
40fanconi anemia, complementation group i10.4
41fanconi anemia, complementation group b10.4
42hiv-110.4
43t-cell leukemia10.4
44b-cell lymphomas10.4
45wilms tumor10.4
46dyskeratosis congenita10.4
47xeroderma pigmentosum10.4
48myeloid leukemia10.4
49fanconi anemia, complementation group l10.4
50fanconi anemia, complementation group d210.4

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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Clinical features from OMIM:

227650,227645

Drugs & Therapeutics for Fanconi's Anemia

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Drug clinical trials:

Search ClinicalTrials for Fanconi's Anemia

Search NIH Clinical Center 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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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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MalaCards organs/tissues related to Fanconi's Anemia:

32
Bone, Bone marrow, Testes, Tongue, Brain, Breast, Kidney, Liver, Skin, Ovary, 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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MGI Mouse Phenotypes related to Fanconi's Anemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9PALB2, FANCD2, FANCM, FANCA, BRCA2
2MP:00053798.2FANCA, RAD51C, FANCM, FANCL, FANCG, FANCD2
3MP:00053898.1SLX4, BRCA2, RAD51C, FANCA, FANCM, FANCL
4MP:00053978.0FANCC, BRCA2, ZBTB32, FANCM, FANCA, SLX4
5MP:00053847.2ZBTB32, BRCA2, PALB2, FANCC, FANCD2, FANCG

Publications for Fanconi's Anemia

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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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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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Pathways related to Fanconi's Anemia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1FANCD2, FANCL
2
Show member pathways
Homologous recombination37
9.9BRCA2, RAD51C
3
Show member pathways
9.8BRIP1, BRCA2
49.4BRIP1, BRCA2, FANCD2, FANCL
59.3RAD51C, FANCL, FANCG, FANCD2, FANCB
68.9FANCA, FANCL, FANCG, FANCE, FANCD2, FANCF
7
Show member pathways
8.8FANCA, FANCG, FANCE, FANCD2, FANCF, FANCC
8
Show member pathways
8.6FANCD2, BRCA2, FANCC, FANCF, FANCE, FANCG
9
Show member pathways
5.7FANCC, FANCB, PALB2, BRCA2, C19orf40, C17orf70
10
Show member pathways
5.4ZBTB32, FANCI, FANCF, FANCC, FANCB, PALB2
114.3C19orf40, C17orf70, APITD1, RAD51C, SLX4, STRA13

Compounds for genes affiliated with Fanconi's Anemia

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Compounds related to Fanconi's Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cisplatin44 50 61 1112.5BRCA2, FANCD2, FANCG, FANCA
2diepoxybutane449.3FANCD2, FANCG, FANCA, FANCC
3mitomycin c448.5FANCA, BRCA2, FANCC, FANCF, FANCD2, FANCE

GO Terms for genes affiliated with Fanconi's Anemia

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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:0718219.2STRA13, FANCM, APITD1
3cytoplasmGO:0057377.8RAD51C, C17orf70, BRCA2, FANCC, FANCG, FANCL
4nucleolusGO:0057307.5FANCM, SLX4, FANCA, FANCG, FANCD2, PALB2
5Fanconi anaemia nuclear complexGO:0432407.1STRA13, FANCA, C19orf40, APITD1, FANCC, FANCB
6nucleusGO:0056345.8PALB2, RAD51C, SLX4, ZBTB32, C17orf70, C19orf40
7nucleoplasmGO:0056545.5FANCA, FANCG, FANCE, FANCD2, FANCI, FANCF

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1gamete generationGO:00727610.1FANCL, FANCD2
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:0062899.7FANCC, BRCA2, SLX4
7response to gamma radiationGO:0103329.6FANCD2, BRCA2
8resolution of meiotic recombination intermediatesGO:0007129.4FANCM, APITD1, STRA13
9replication fork processingGO:0312979.3APITD1, FANCM, STRA13
10double-strand break repair via homologous recombinationGO:0007249.3PALB2, SLX4, RAD51C, BRCA2
11positive regulation of protein ubiquitinationGO:0313989.2STRA13, FANCI, APITD1
12DNA repairGO:0062814.1FANCC, STRA13, FANCA, FANCM, FANCL, FANCG

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:0036775.9RAD51C, STRA13, FANCM, FANCI, PALB2, BRIP1
4protein bindingGO:0055153.9FANCD2, FANCF, FANCG, FANCM, FANCA, STRA13

Products for genes affiliated with Fanconi's Anemia

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Sources for Fanconi's Anemia

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3CDC
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25ICD10
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29KEGG
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