Fanconi anemia


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Related to Fanconi anemia: aplastic anemia, ataxia telangiectasia, Fanconi syndrome

Fan·co·ni syn·drome

(fahn-kō'nē), [MIM*227650-227660]
1. a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types [MIM*227650, 227600, 227645, 227646, 600901]); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. Synonym(s): congenital aplastic anemia, congenital pancytopenia, Fanconi anemia, Fanconi pancytopenia
2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.

Fan·co·ni a·ne·mi·a

(fahn-kō'nē ă-nē'mē-ă)
A type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia.
Synonym(s): Fanconi syndrome (1) .

Fanconi,

Guido, Swiss pediatrician, 1892-1979.
De Toni-Fanconi syndrome - see under De Toni
Debré-De Toni-Fanconi syndrome - Synonym(s): Fanconi syndrome
Fanconi-Albertini-Zellweger syndrome - syndrome characterized by multiple conditions including congenital heart defect, microdontia, metabolic acidosis, and bone-related problems as well as growth retardation.
Fanconi anemia - a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies. Synonym(s): congenital aplastic anemia; congenital pancytopenia; Fanconi pancytopenia; Fanconi syndrome (1)
Fanconi pancytopenia - Synonym(s): Fanconi anemia (1)
Fanconi syndrome (1) - Synonym(s): Fanconi anemia; - (2) a group of conditions with characteristic disorders of renal tubular function.Synonym(s): Debré-De Toni-Fanconi syndrome
Lignac-Fanconi syndrome - see under Lignac
Wissler-Fanconi syndrome - see under Wissler
References in periodicals archive ?
In 1989, they began the Fanconi Anemia Research Fund that has plowed more than $15 million into studying the disorder.
Coverage of the Fanconi Anemia pipeline on the basis of route of administration and molecule type.
The Fanconi Anemia Research Fund also sponsors the annual International Fanconi Anemia Scientific Symposium where scientists from around the globe present the results of their research.
Children born with Fanconi anemia die young unless they receive healthy, transplanted, blood-producing stem cells.
A set of xenobiotics has been reported to exert enhanced toxicity to cells from patients with Fanconi anemia (FA), a cancer-prone genetic disease (Ahmad et al.
If the disease for which the transplant is sought is autosomal recessive, as with Fanconi anemia, then there is only a three in sixteen chance of conceiving a child who is both disease free and HLA matched.
17) In view of the literature reports in which p53 gene mutations were not found in Fanconi anemia, SDS, and RA, p53 protein overexpression probably reflects a functional p53 gene that has been up-regulated to provide additional protection for cells with damaged and potentially hazardous DNA.
A single cell was taken from each embryo and tested for the presence of the genetic mutation that causes Fanconi anemia.
The now-former employee of Fanconi Anemia Research Fund on Thursday made her initial court appearance in the felony case.
4ANT4EVER was started in honor of Anthony Negrin, who passed away in October 2009 after a long fight with a rare blood cancer called Fanconi Anemia.
These genes and proteins were discovered during research of Fanconi anemia, a rare disease caused by mutations in 13 fanc genes that is characterized by congenital malformations, bone marrow failure, cancer and hypersensitivity to DNA cross-linking agents.

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