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Fanconi anemia(FA)

MedGen UID:
41967
Concept ID:
C0015625
Disease or Syndrome
Synonyms: FA; Fanconi pancytopenia; Fanconi's anemia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the 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
Sources: HPO, OMIM, 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.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Fanconi's hypoplastic anemia (30575002); Fanconi's familial refractory anemia (30575002); Fanconi anemia (30575002); Fanconi pancytopenia syndrome (30575002); Fanconi's anemia (30575002)
 
Related genes: SLX4, BRIP1, PALB2, FANCM, FANCI, FANCL, RAD51C, FANCG, FANCF, FANCB, FANCE, FANCD2, FANCC, FANCA, BRCA2
OMIM®: 227650
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 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, gastrointestinal tract, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]
Authors:
Parinda A Mehta  |  Jakub Tolar   view full author information

Additional description

From GHR
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.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.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).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.  https://ghr.nlm.nih.gov/condition/fanconi-anemia

Term Hierarchy

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

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

External

Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008

Recent clinical studies

Etiology

Lakhi NA, Mizejewski GJ
Fetal Pediatr Pathol 2017 Feb;36(1):49-61. Epub 2016 Oct 3 doi: 10.1080/15513815.2016.1225873. PMID: 27690720
Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI, Smogorzewska A
Laryngoscope 2016 Apr;126(4):870-9. Epub 2015 Oct 20 doi: 10.1002/lary.25726. PMID: 26484938Free PMC Article
Matsuzaki K, Borel V, Adelman CA, Schindler D, Boulton SJ
Genes Dev 2015 Dec 15;29(24):2532-46. Epub 2015 Dec 4 doi: 10.1101/gad.272740.115. PMID: 26637282Free PMC Article
Stoepker C, Ameziane N, van der Lelij P, Kooi IE, Oostra AB, Rooimans MA, van Mil SE, Brink A, Dietrich R, Balk JA, Ylstra B, Joenje H, Feller SM, Brakenhoff RH
Cancer Res 2015 Sep 1;75(17):3543-53. Epub 2015 Jun 29 doi: 10.1158/0008-5472.CAN-15-0528. PMID: 26122845
Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R
Clin Genet 2015 Jul;88(1):68-73. Epub 2014 Jul 30 doi: 10.1111/cge.12447. PMID: 24989076

Diagnosis

Svojgr K, Sumerauer D, Puchmajerova A, Vicha A, Hrusak O, Michalova K, Malis J, Smisek P, Kyncl M, Novotna D, Machackova E, Jencik J, Pycha K, Vaculik M, Kodet R, Stary J
Eur J Med Genet 2016 Mar;59(3):152-7. Epub 2015 Dec 2 doi: 10.1016/j.ejmg.2015.11.013. PMID: 26657402
Risitano AM, Marotta S, Calzone R, Grimaldi F, Zatterale A; RIAF Contributors.
Haematologica 2016 Mar;101(3):319-27. Epub 2015 Dec 3 doi: 10.3324/haematol.2015.133520. PMID: 26635036Free PMC Article
Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI, Smogorzewska A
Laryngoscope 2016 Apr;126(4):870-9. Epub 2015 Oct 20 doi: 10.1002/lary.25726. PMID: 26484938Free PMC Article
Lombardi AJ, Hoskins EE, Foglesong GD, Wikenheiser-Brokamp KA, Wiesmüller L, Hanenberg H, Andreassen PR, Jacobs AJ, Olson SB, Keeble WW, Hays LE, Wells SI
Clin Cancer Res 2015 Apr 15;21(8):1962-72. Epub 2015 Jan 21 doi: 10.1158/1078-0432.CCR-14-2616. PMID: 25609062Free PMC Article
Feben C, Kromberg J, Wainwright R, Stones D, Poole J, Haw T, Krause A
Blood Cells Mol Dis 2015 Mar;54(3):270-4. Epub 2014 Nov 27 doi: 10.1016/j.bcmd.2014.11.011. PMID: 25477267

Therapy

Fu C, Begum K, Overbeek PA
PLoS One 2016 Mar 3;11(3):e0144285. doi: 10.1371/journal.pone.0144285. PMID: 26939056Free PMC Article
Svojgr K, Sumerauer D, Puchmajerova A, Vicha A, Hrusak O, Michalova K, Malis J, Smisek P, Kyncl M, Novotna D, Machackova E, Jencik J, Pycha K, Vaculik M, Kodet R, Stary J
Eur J Med Genet 2016 Mar;59(3):152-7. Epub 2015 Dec 2 doi: 10.1016/j.ejmg.2015.11.013. PMID: 26657402
Roomi MW, Bhanap B, Roomi NW, Niedzwiecki A, Rath M
Exp Oncol 2014 Sep;36(3):212-4. PMID: 25265357
Ayas M, Siddiqui K, Al-Jefri A, El-Solh H, Al-Ahmari A, Khairy A, Markiz S, Shahin H, Al-Musa A, Al-Seraihy A
Biol Blood Marrow Transplant 2014 Oct;20(10):1599-603. Epub 2014 Jun 21 doi: 10.1016/j.bbmt.2014.06.016. PMID: 24960628
Dogan Z, Yildiz H, Coskuner I, Uzel M, Garipardic M
Braz J Anesthesiol 2014 May-Jun;64(3):201-4. Epub 2013 Oct 23 doi: 10.1016/j.bjane.2012.12.006. PMID: 24907882

Prognosis

Risitano AM, Marotta S, Calzone R, Grimaldi F, Zatterale A; RIAF Contributors.
Haematologica 2016 Mar;101(3):319-27. Epub 2015 Dec 3 doi: 10.3324/haematol.2015.133520. PMID: 26635036Free PMC Article
Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory., Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group.
Am J Med Genet A 2016 Feb;170A(2):386-91. Epub 2015 Nov 21 doi: 10.1002/ajmg.a.37461. PMID: 26590883
Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI, Smogorzewska A
Laryngoscope 2016 Apr;126(4):870-9. Epub 2015 Oct 20 doi: 10.1002/lary.25726. PMID: 26484938Free PMC Article
Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900
Feben C, Kromberg J, Wainwright R, Stones D, Poole J, Haw T, Krause A
Blood Cells Mol Dis 2015 Mar;54(3):270-4. Epub 2014 Nov 27 doi: 10.1016/j.bcmd.2014.11.011. PMID: 25477267

Clinical prediction guides

Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900
Matsuzaki K, Borel V, Adelman CA, Schindler D, Boulton SJ
Genes Dev 2015 Dec 15;29(24):2532-46. Epub 2015 Dec 4 doi: 10.1101/gad.272740.115. PMID: 26637282Free PMC Article
Stoepker C, Ameziane N, van der Lelij P, Kooi IE, Oostra AB, Rooimans MA, van Mil SE, Brink A, Dietrich R, Balk JA, Ylstra B, Joenje H, Feller SM, Brakenhoff RH
Cancer Res 2015 Sep 1;75(17):3543-53. Epub 2015 Jun 29 doi: 10.1158/0008-5472.CAN-15-0528. PMID: 26122845
Feben C, Kromberg J, Wainwright R, Stones D, Poole J, Haw T, Krause A
Blood Cells Mol Dis 2015 Mar;54(3):270-4. Epub 2014 Nov 27 doi: 10.1016/j.bcmd.2014.11.011. PMID: 25477267
Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R
Clin Genet 2015 Jul;88(1):68-73. Epub 2014 Jul 30 doi: 10.1111/cge.12447. PMID: 24989076

Recent systematic reviews

Chao MM, Ebell W, Bader P, Beier R, Burkhardt B, Feuchtinger T, Handgretinger R, Hanenberg H, Koehl U, Kratz C, Kremens B, Lang P, Meisel R, Mueller I, Roessig C, Sauer M, Schlegel PG, Schulz A, Strahm B, Thol F, Sykora KW
Klin Padiatr 2015 May;227(3):157-65. Epub 2015 May 18 doi: 10.1055/s-0035-1548841. PMID: 25985449
Pagano G, d'Ischia M, Pallardó FV
Pediatr Blood Cancer 2015 Jul;62(7):1137-43. Epub 2015 Mar 2 doi: 10.1002/pbc.25452. PMID: 25732180
Trujillo JP, Surralles J
Genet Med 2015 Nov;17(11):935-8. Epub 2015 Feb 12 doi: 10.1038/gim.2014.206. PMID: 25674777
Petryk A, Kanakatti Shankar R, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR
J Clin Endocrinol Metab 2015 Mar;100(3):803-11. Epub 2015 Jan 9 doi: 10.1210/jc.2014-4357. PMID: 25575015Free PMC Article
Knies K, Schuster B, Ameziane N, Rooimans M, Bettecken T, de Winter J, Schindler D
PLoS One 2012;7(12):e52648. Epub 2012 Dec 20 doi: 10.1371/journal.pone.0052648. PMID: 23285130Free PMC Article

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