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Fanconi anemia complementation group D2(FANCD2; FACD; FANCD; FA4)

MedGen UID:
463627
Concept ID:
C3160738
Disease or Syndrome
Synonyms: FANCD2-Related Fanconi Anemia; FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCONI PANCYTOPENIA, TYPE 4
 
FANCD2 (3p25.3)
 
Monarch Initiative: MONDO:0009214
OMIM®: 227646
Authors:

Additional descriptions

From OMIM
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.  http://www.omim.org/entry/227646
From MedlinePlus Genetics
Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.

More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve 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. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly).

The major function of bone marrow is to produce 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. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that 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.

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.  https://medlineplus.gov/genetics/condition/fanconi-anemia

Clinical features

From HPO

Professional guidelines

PubMed

Lundholm L, Hååg P, Zong D, Juntti T, Mörk B, Lewensohn R, Viktorsson K
Cell Death Dis 2013 Jan 31;4(1):e478. doi: 10.1038/cddis.2012.211. PMID: 23370278Free PMC Article
Choi IS, Lee HS, Lee KW, Kim H, Kim KH, Kim YJ, Kim JH, Kim WH, Lee JS
Med Oncol 2011 Dec;28(4):991-8. Epub 2010 Jun 9 doi: 10.1007/s12032-010-9590-4. PMID: 20533001

Curated

Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

Recent clinical studies

Etiology

Engel JL, Zhang X, Wu M, Wang Y, Espejo Valle-Inclán J, Hu Q, Woldehawariat KS, Sanders MA, Smogorzewska A, Chen J, Cortés-Ciriano I, Lo RS, Ly P
Cell 2024 Oct 17;187(21):6055-6070.e22. Epub 2024 Aug 23 doi: 10.1016/j.cell.2024.08.001. PMID: 39181133Free PMC Article
Alcón P, Kaczmarczyk AP, Ray KK, Liolios T, Guilbaud G, Sijacki T, Shen Y, McLaughlin SH, Sale JE, Knipscheer P, Rueda DS, Passmore LA
Nature 2024 Aug;632(8027):1165-1173. Epub 2024 Jul 31 doi: 10.1038/s41586-024-07770-w. PMID: 39085614Free PMC Article
Olazabal-Herrero A, He B, Kwon Y, Gupta AK, Dutta A, Huang Y, Boddu P, Liang Z, Liang F, Teng Y, Lan L, Chen X, Pei H, Pillai MM, Sung P, Kupfer GM
Cell Rep 2024 Jan 23;43(1):113610. Epub 2024 Jan 1 doi: 10.1016/j.celrep.2023.113610. PMID: 38165804Free PMC Article
Brunner A, Li Q, Fisicaro S, Kourtesakis A, Viiliäinen J, Johansson HJ, Pandey V, Mayank AK, Lehtiö J, Wohlschlegel JA, Spruck C, Rantala JK, Orre LM, Sangfelt O
Mol Cell 2023 Oct 19;83(20):3720-3739.e8. Epub 2023 Aug 16 doi: 10.1016/j.molcel.2023.07.026. PMID: 37591242Free PMC Article
Ceccaldi R, Liu JC, Amunugama R, Hajdu I, Primack B, Petalcorin MI, O'Connor KW, Konstantinopoulos PA, Elledge SJ, Boulton SJ, Yusufzai T, D'Andrea AD
Nature 2015 Feb 12;518(7538):258-62. Epub 2015 Feb 2 doi: 10.1038/nature14184. PMID: 25642963Free PMC Article

Diagnosis

Sanchez-Lopez I, Orantos-Aguilera Y, Pozo-Guisado E, Alvarez-Barrientos A, Lilla S, Zanivan S, Lachaud C, Martin-Romero FJ
Nucleic Acids Res 2024 Mar 21;52(5):2389-2415. doi: 10.1093/nar/gkae001. PMID: 38224453Free PMC Article
Lin HH, Zeng WH, Yang HK, Huang LS, Pan R, Lei NX
BMC Womens Health 2024 Jan 13;24(1):41. doi: 10.1186/s12905-023-02857-4. PMID: 38218826Free PMC Article
Tang X, Luo B, Huang S, Jiang J, Chen Y, Ren W, Shi X, Zhang W, Shi L, Zhong X, Lü M
Eur J Med Res 2023 Oct 11;28(1):419. doi: 10.1186/s40001-023-01411-0. PMID: 37821996Free PMC Article
Tan W, Deans AJ
Prog Biophys Mol Biol 2021 Aug;163:5-13. Epub 2020 Oct 12 doi: 10.1016/j.pbiomolbio.2020.09.009. PMID: 33058944
Tian Y, Shen X, Wang R, Klages-Mundt NL, Lynn EJ, Martin SK, Ye Y, Gao M, Chen J, Schlacher K, Li L
J Biol Chem 2017 Dec 8;292(49):20184-20195. Epub 2017 Oct 11 doi: 10.1074/jbc.M117.814780. PMID: 29021208Free PMC Article

Therapy

Ramírez MJ, Pujol R, Minguillón J, Bogliolo M, Persico I, Cavero D, de la Cal A, Río P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazán F, Antelo ML, Argilés B, Badell I, Baragaño M, Beléndez C, Bermúdez M, Bernués M, Buedo MI, Carrasco E, Català A, Costa D, Cuesta I, Fernandez-Delgado R, Fernández-Teijeiro A, Figuera Á, García M, Gondra A, González M, Muñiz SG, Hernández-Rodríguez I, Ibañez F, Kelleher NJ, Lendínez F, López M, López-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payán-Pernía S, Peláez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodríguez A, Rosell J, Saez R, Sánchez J, Sánchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdú-Amorós J, Verdugo V, Vidales I, Villarreal J, Díaz-de-Heredia C, Sevilla J, Bueren JA, Surrallés J
Am J Hematol 2025 Feb;100(2):272-284. Epub 2024 Nov 19 doi: 10.1002/ajh.27520. PMID: 39562502Free PMC Article
Zhou Y, Luo Y, Zeng W, Mao L, Le F, Lou H, Wang L, Mao Y, Jiang Z, Jin F
J Cell Mol Med 2024 Oct;28(19):e70119. doi: 10.1111/jcmm.70119. PMID: 39400935Free PMC Article
Lin HH, Zeng WH, Yang HK, Huang LS, Pan R, Lei NX
BMC Womens Health 2024 Jan 13;24(1):41. doi: 10.1186/s12905-023-02857-4. PMID: 38218826Free PMC Article
Tang X, Luo B, Huang S, Jiang J, Chen Y, Ren W, Shi X, Zhang W, Shi L, Zhong X, Lü M
Eur J Med Res 2023 Oct 11;28(1):419. doi: 10.1186/s40001-023-01411-0. PMID: 37821996Free PMC Article
Patel PS, Algouneh A, Hakem R
Oncogene 2021 Apr;40(17):3001-3014. Epub 2021 Mar 14 doi: 10.1038/s41388-021-01744-2. PMID: 33716297

Prognosis

Wang Z, Huang J, MinYang, Fu L, Liu S, Huang J, Han J, Zhao X
Gene 2024 Aug 15;919:148498. Epub 2024 Apr 24 doi: 10.1016/j.gene.2024.148498. PMID: 38670397
Zhao Z, Wang R, Wang R, Song J, Ma F, Pan H, Gao C, Wang D, Chen X, Fan X
BMC Med Genomics 2024 Mar 5;17(1):69. doi: 10.1186/s12920-024-01836-4. PMID: 38443946Free PMC Article
Zhou H, Wang YX, Wu M, Lan X, Xiang D, Cai R, Ma Q, Miao J, Fang X, Wang J, Luo D, He Z, Cui Y, Liang P, Wang Y, Bian XW
J Pathol 2024 Apr;262(4):427-440. Epub 2024 Jan 17 doi: 10.1002/path.6245. PMID: 38229567
Xie X, Zhao Y, Du F, Cai B, Fang Z, Liu Y, Sang Y, Ma C, Liu Z, Yu X, Zhang C, Jiang J, Gao Z, Liu Y, Lin X, Jing H, Zhong X, Cong L, Dai H, Sha D, Shao N, Feng H, Li L, Liu J, Shang L
Genomics 2024 Jan;116(1):110762. Epub 2023 Dec 15 doi: 10.1016/j.ygeno.2023.110762. PMID: 38104669
Tang X, Luo B, Huang S, Jiang J, Chen Y, Ren W, Shi X, Zhang W, Shi L, Zhong X, Lü M
Eur J Med Res 2023 Oct 11;28(1):419. doi: 10.1186/s40001-023-01411-0. PMID: 37821996Free PMC Article

Clinical prediction guides

Morita S, Fujikane R, Uechi Y, Matsuura T, Hidaka M
Mol Biol Rep 2024 Jun 14;51(1):745. doi: 10.1007/s11033-024-09682-4. PMID: 38874758
Wang Z, Huang J, MinYang, Fu L, Liu S, Huang J, Han J, Zhao X
Gene 2024 Aug 15;919:148498. Epub 2024 Apr 24 doi: 10.1016/j.gene.2024.148498. PMID: 38670397
Zhou H, Wang YX, Wu M, Lan X, Xiang D, Cai R, Ma Q, Miao J, Fang X, Wang J, Luo D, He Z, Cui Y, Liang P, Wang Y, Bian XW
J Pathol 2024 Apr;262(4):427-440. Epub 2024 Jan 17 doi: 10.1002/path.6245. PMID: 38229567
Lin HH, Zeng WH, Yang HK, Huang LS, Pan R, Lei NX
BMC Womens Health 2024 Jan 13;24(1):41. doi: 10.1186/s12905-023-02857-4. PMID: 38218826Free PMC Article
Rogers CB, Kram RE, Lin K, Myers CL, Sobeck A, Hendrickson EA, Bielinsky AK
Cell Rep 2023 May 30;42(5):112428. Epub 2023 Apr 21 doi: 10.1016/j.celrep.2023.112428. PMID: 37086407Free PMC Article

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.

    Curated

    • FARF, 2020
      Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

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