| Symbol
| FANCC
|
| Location
| 9q22.32
|
| Name
|
Fanconi anemia, complementation group C |
| Other name(s)
|
Fanconi pancytopenia, type 3 |
| Corresponding gene
|
FANCC
|
| related resource
| Fanconi Anaemia Mutation Database
|
| Other symbol(s)
| FA3, FACC
|
| 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
| autosomal recessive |
| Function/system disorder
| hematology |
|
| osteo-articular |
| Type
| chromosomal instability syndrome
|