U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fanconi anemia(FA)

MedGen UID:
41967
Concept ID:
C0015625
Disease or Syndrome
Synonyms: FA; Fanconi's anemia
SNOMED CT: Fanconi's hypoplastic anemia (30575002); Fanconi's familial refractory anemia (30575002); Fanconi anemia (30575002); Fanconi pancytopenia syndrome (30575002); Fanconi's anemia (30575002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: SLX4, BRIP1, PALB2, FANCI, FANCL, RAD51C, FANCG, FANCF, FANCB, FANCE, FANCD2, FANCC, FANCA, BRCA2
 
Monarch Initiative: MONDO:0019391
OMIM® Phenotypic series: PS227650
Orphanet: ORPHA84

Disease characteristics

Excerpted from the GeneReview: Fanconi Anemia
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]
Authors:
Parinda A Mehta  |  Christen Ebens   view full author information

Additional description

From MedlinePlus Genetics
Fanconi anemia is a condition that is characterized by bone marrow failure, physical differences, organ problems, and an increased risk of certain cancers.

Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function. Bone marrow primarily produces new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. In people with Fanconi anemia, impaired bone marrow function leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.

People with Fanconi anemia often have growth problems before or after birth that often result in short stature. Affected individuals can also have irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. People with Fanconi anemia can have skeletal problems that often include malformed thumbs or forearms or an unusually small head size (microcephaly).

Problems in hormone-producing (endocrine) tissues are common in people with Fanconi anemia, including abnormally low levels of thyroid hormones (hypothyroidism), and high blood glucose levels (hyperglycemia). Individuals with Fanconi anemia can also have eye abnormalities such as small or abnormally shaped eyes or malformed or absent kidneys and other defects of the urinary tract.  Less frequent problems include gastrointestinal abnormalities, heart defects, brain abnormalities, and hearing loss. People with Fanconi anemia may have abnormal genitalia or malformations of the reproductive system, which can result in difficulty having biological children (infertility).

Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells called acute myeloid leukemia (AML). They are also at risk of developing tumors of the liver, gastrointestinal system, genital tract, or head and neck (known as head and neck squamous cell carcinoma). The likelihood of a person with Fanconi anemia developing one of these cancers is between 10 and 30 percent.  https://medlineplus.gov/genetics/condition/fanconi-anemia

Term Hierarchy

Follow this link to review classifications for Fanconi anemia in Orphanet.

Professional guidelines

PubMed

Olson TS
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):556-562. doi: 10.1182/hematology.2023000489. PMID: 38066849Free PMC Article
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP
Haematologica 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. PMID: 35417938Free PMC Article
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article

Curated

Diagnosis of Fanconi Anemia: Testing and Genetic Counseling - Chapter 2, Spring 2023 update

Clinical Care of Fanconi Anemia Hematologic Issues, Chapter 3, Summer 2023 Update

Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

Recent clinical studies

Etiology

Karasu ME, Jahnke L, Joseph BJ, Amerzhanova Y, Mironov A, Shu X, Schröder MS, Gvozdenovic A, Sala I, Zavolan M, Jonas S, Corn JE
Mol Cell 2024 Jul 25;84(14):2634-2647.e9. Epub 2024 Jul 3 doi: 10.1016/j.molcel.2024.06.011. PMID: 38964321
Dufour C, Pierri F
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393. PMID: 36485157Free PMC Article
Peake JD, Noguchi E
Hum Genet 2022 Dec;141(12):1811-1836. Epub 2022 May 21 doi: 10.1007/s00439-022-02462-9. PMID: 35596788
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article

Diagnosis

Olson TS
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):556-562. doi: 10.1182/hematology.2023000489. PMID: 38066849Free PMC Article
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Am J Hum Genet 2023 Nov 2;110(11):1938-1949. Epub 2023 Oct 20 doi: 10.1016/j.ajhg.2023.09.014. PMID: 37865086Free PMC Article
Dufour C, Pierri F
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393. PMID: 36485157Free PMC Article
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article

Therapy

Hoover A, Turcotte LM, Phelan R, Barbus C, Rayannavar A, Miller BS, Reardon EE, Theis-Mahon N, MacMillan ML
Blood Rev 2024 Nov;68:101225. Epub 2024 Aug 2 doi: 10.1016/j.blre.2024.101225. PMID: 39107201Free PMC Article
Dufour C, Pierri F
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393. PMID: 36485157Free PMC Article
O'Reilly EM, Lee JW, Zalupski M, Capanu M, Park J, Golan T, Tahover E, Lowery MA, Chou JF, Sahai V, Brenner R, Kindler HL, Yu KH, Zervoudakis A, Vemuri S, Stadler ZK, Do RKG, Dhani N, Chen AP, Kelsen DP
J Clin Oncol 2020 May 1;38(13):1378-1388. Epub 2020 Jan 24 doi: 10.1200/JCO.19.02931. PMID: 31976786Free PMC Article
Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium, Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA
J Natl Cancer Inst 2015 Nov;107(11) Epub 2015 Aug 27 doi: 10.1093/jnci/djv214. PMID: 26315354Free PMC Article
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article

Prognosis

Chang L, Zhang L, An W, Wan Y, Cai Y, Lan Y, Zhang A, Liu L, Ruan M, Liu X, Guo Y, Yang W, Chen X, Chen Y, Wang S, Zou Y, Yuan W, Zhu X
Clin Chim Acta 2023 Jan 15;539:41-49. Epub 2022 Dec 1 doi: 10.1016/j.cca.2022.11.030. PMID: 36463940
Malouf C, Loughran SJ, Wilkinson AC, Shimamura A, Río P
Exp Hematol 2022 Jan;105:18-21. Epub 2021 Nov 18 doi: 10.1016/j.exphem.2021.11.004. PMID: 34801643Free PMC Article
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
Nepal M, Che R, Zhang J, Ma C, Fei P
Trends Cancer 2017 Dec;3(12):840-856. Epub 2017 Nov 10 doi: 10.1016/j.trecan.2017.10.005. PMID: 29198440Free PMC Article
Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, Brown J, Luben R, Ostrander EA, Pharoah PD, Dunning AM, Easton DF
J Med Genet 2017 Nov;54(11):732-741. Epub 2017 Aug 4 doi: 10.1136/jmedgenet-2017-104588. PMID: 28779002Free PMC Article

Clinical prediction guides

Zhang S, Liu Y, Sun Y, Liu Q, Gu Y, Huang Y, Zeng Z, Tang F, Ouyang Y
Mol Cancer 2024 Jan 10;23(1):11. doi: 10.1186/s12943-023-01924-6. PMID: 38200551Free PMC Article
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Hum Mutat 2018 Feb;39(2):237-254. Epub 2017 Nov 22 doi: 10.1002/humu.23366. PMID: 29098742Free PMC Article
Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium, Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA
J Natl Cancer Inst 2015 Nov;107(11) Epub 2015 Aug 27 doi: 10.1093/jnci/djv214. PMID: 26315354Free PMC Article
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D
Am J Hum Genet 2007 May;80(5):895-910. Epub 2007 Apr 6 doi: 10.1086/517616. PMID: 17436244Free PMC Article

Recent systematic reviews

Rocha PADS, Santana NCM, de Arruda JAA, Amaral TMP, Drumond VZ, Torres-Pereira CC, Acevedo AC, Berdal A, Abreu LG, Silva TA, Fournier BPJ
Oral Dis 2025 Apr;31(4):1342-1357. Epub 2024 Nov 20 doi: 10.1111/odi.15205. PMID: 39568270
Hoover A, Turcotte LM, Phelan R, Barbus C, Rayannavar A, Miller BS, Reardon EE, Theis-Mahon N, MacMillan ML
Blood Rev 2024 Nov;68:101225. Epub 2024 Aug 2 doi: 10.1016/j.blre.2024.101225. PMID: 39107201Free PMC Article
Santana NCM, de Sena ACVP, Rocha PADS, de Arruda JAA, Torres-Pereira CC, Abreu LG, Fournier BPJ, Warnakulasuriya S, Silva TA
Oral Oncol 2024 Mar;150:106699. Epub 2024 Feb 3 doi: 10.1016/j.oraloncology.2024.106699. PMID: 38309198
Lee RH, Kang H, Yom SS, Smogorzewska A, Johnson DE, Grandis JR
Clin Cancer Res 2021 Oct 1;27(19):5168-5187. doi: 10.1158/1078-0432.CCR-21-1259. PMID: 34045293Free PMC Article
Shafqat S, Tariq E, Parnes AD, Dasouki MJ, Ahmed SO, Hashmi SK
Hematol Oncol Stem Cell Ther 2021 Dec;14(4):290-301. Epub 2021 Mar 7 doi: 10.1016/j.hemonc.2021.02.001. PMID: 33736979

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...