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GENATLAS PHENOTYPE

last update : 25-10-2016

Symbol	FANCU
Location	7q36.1
Name	Fanconi anemia, complementation group U
Corresponding gene	XRCC2
Main clinical features	progressive bone marrow failure (pancytopenia), skeletal abnormalities, radial hypoplasia and vertebral defect and other physical abnormalities, microcephaly, bilaterally absent thumbs, and kidney malformations increased risk of hematologic and non-hematologic malignancies endocrine dysfunction, early onset osteopenia/osteoporosis and lipid abnormalities
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
	hematology
Type	disease

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