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GENATLAS PHENOTYPE

last update : 14/06/2006

Symbol	FANCF
Location	11p15
Name	Fanconi anemia, complementation group F
Corresponding gene	FANCF
related resource	Fanconi Anaemia Mutation Database
Main clinical features	progressive bone marrow failure (pancytopenia), skin pigmentary changes, short stature, upper limb malformations and other physical abnormalities increased risk of hematologic and non-hematologic malignancies endocrine dysfunction , early onset osteopenia/osteoporosis and lipid abnormalities spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents
Genetic determination
Function/system disorder	osteo-articular
	hematology
Type	disease

Gene product

Name	Fanconi anemia, complementation group F protein

Remark(s)