Fanconi anemia

(redirected from Fanconi anemia complementation group d2 protein)
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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
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