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Disease Profile
Fanconi anemia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
D61.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Fanconi pancytopenia; Fanconi's anemia
Categories
Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases;
Summary
Fanconi
Symptoms
Symptoms of Fanconi anemia may include:[1][2][4]
- Shorter than average height
- Abnormal patches of skin color
- Abnormalities of the bones of the upper and lower limbs
- Small head size (
microcephaly ) - Eye abnormalities
- Genitourinary tract malformation
Hearing loss - Structural heart defects
Hormone abnormalities
FA causes bone marrow failure that gets worse over time. This leads to low levels of red and
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of |
0003220 | |
Aplasia/Hypoplasia of the radius | 0006501 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Irregular hyperpigmentation | 0007400 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Pyridoxine-responsive sideroblastic anemia | 0005522 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Low platelet count
|
0001873 | |
30%-79% of people have these symptoms | ||
Almond-shaped palpebral fissure |
Almond shaped eyes
Almond-shaped opening between the eyelids
[ more ] |
0007874 |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
0002650 | ||
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
5%-29% of people have these symptoms | ||
Abnormal aortic morphology | 0001679 | |
Abnormal aortic valve morphology | 0001646 | |
Abnormal carotid artery morphology | 0005344 | |
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Abnormality of femur morphology |
Abnormality of the thighbone
|
0002823 |
Abnormality of the hypothalamus-pituitary axis | 0000864 | |
Abnormality of the liver |
Abnormal liver
Liver abnormality
[ more ] |
0001392 |
Abnormality of the preputium | 0100587 | |
Absent |
Absent testes
|
0010469 |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Anal atresia |
Absent anus
|
0002023 |
Aplasia/Hypoplasia of fingers |
Absent/small fingers
Absent/underdeveloped fingers
[ more ] |
0006265 |
Aplasia/Hypoplasia of the iris |
Absent/small iris
Absent/underdeveloped iris
[ more ] |
0008053 |
Aplasia/Hypoplasia of the uvula | 0010293 | |
Arteriovenous malformation | 0100026 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Azoospermia |
Absent sperm in semen
|
0000027 |
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Cleft roof of mouth
|
0000175 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Clubbing of toes | 0100760 | |
Cranial nerve paralysis | 0006824 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased fertility in males | 0012041 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Duodenal stenosis | 0100867 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
External ear malformation | 0008572 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Finger |
0006101 | |
Frontal bossing | 0002007 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydroureter | 0000072 | |
Conditions with similar signs and symptoms from Orphanet
|
---|
FA clinical manifestations overlap with many malformation syndromes (Dubowitz, Seckel, Holt-Oram, Baller-Gerold, thrombocytopenia-absent radius, Nijmegen breakage syndromes, VACTERL association, dyskeratosis congenita; see these terms) and diagnosis of FA is often delayed until a patient develops BMF or malignancies. FA should be considered in the differential diagnosis of all young patients with BMF of unknown etiology. Other cancer predisposition syndromes (Bloom, Rothmund-Thomson or Werner syndromes; see these terms) or syndromes with pancytopenia (Diamond-Blackfan anemia, immune pancytopenia, Pearson or Shwachman-Diamond syndromes; see these terms) should be considered.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: [email protected]
Website: https://www.enerca.org -
Fanconi Anemia Research Fund, Inc (FARF)
1801 Willamette Street Suite 200
Eugene, OR 97401
Toll-free: 800-828-4891
Telephone: 541-687-4658
Fax: 541-687-0548
E-mail: [email protected]
Website: https://www.fanconi.org -
Jewish Genetic Disease Consortium (JGDC)
450 West End Ave., 6A
New York, NY 10024
Toll-free: 866-370-GENE (4363)
Telephone: 855-642-6900
Fax: 212-873-7892
E-mail: [email protected]
Website: https://www.JewishGeneticDiseases.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Fanconi anemia. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi anemia. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Tolar J, Adair JE, Antoniou M, Bartholomae CC, Becker PS, Blazar BR, Bueren J, Carroll T, Cavazzana-Calvo M, Clapp DW, Dalgleish R, Galy A, Gaspar HB, Hanenberg H, Von Kalle C, Kiem HP, Lindeman D, Naldini L, Navarro S, Renella R, Rio P, Sevilla J, Schmidt M, Verhoeyen E, Wagner JE, Williams DA, Thrasher AJ. Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anemia gene therapy working group meeting. Mol Ther. 2011 Jul;19(7):1193-8.
References
- Mehta PA, Tolar J. Fanconi anemia. GeneReviews®. Seattle (WA): University of Washington, Seattle. Updated Mar, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1401.
- Bhandari J, Thada PK, Puckett Y. Fanconi Anemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Updated: June 21, 2020; https://www.ncbi.nlm.nih.gov/books/NBK559133.
- Taylor AMR, Rothblum-Oviatt C, Ellis NA, et al. Chromosome instability syndromes. Nat Rev Dis Primers. 2019; 5(1):64. https://pubmed.ncbi.nlm.nih.gov/31537806.
- Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP. Genotype-phenotype associations in Fanconi anemia: A literature review. Blood Rev. 2019; 37:100589. https://pubmed.ncbi.nlm.nih.gov/31351673.
- Ebens CL, MacMillan ML, Wagner JE. Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations. Expert Rev Hematol. 2017; 10(1):81-97. https://pubmed.ncbi.nlm.nih.gov/27929686.
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