Fanconi anemia, complementation group C
| Disorder | |
|---|---|
| OMIM #: | #227645 (Click to access OMIM database) |
| Disorder: | Fanconi anemia, complementation group C |
| Also known as: | Fanconi pancytopenia, type 3 |
| Clinical | |
| Phenotype: | short stature, thumb hypoplasia, microcephaly, cafe-au-lait spots, anemia, thrombocytopenia, other blood abnormalities, kidney malformation, congenital heart defect, DNA instability disorder, developmental delay, bone marrow failure, cancer predisposition, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | FANCC |
| Base Change: | c.67delG |
| Amino Acid Change: | p.Asp23Ilefs*23 |
| Last updated: | 2022-11-04 |
| References |
|---|
| de Vries Y, Lwiwski N, Levitus M, Kuyt B, Israels SJ, Arwert F, Zwaan M, Greenberg CR, Alter BP, Joenje H, Meijers-Heijboer H. (2012) A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. Anemia 2012:865170. PubMed ID: 22701786 |
| García-de Teresa B, Frias S, Molina B, Villarreal MT, Rodriguez A, Carnevale A, López-Hernández G, Vollbrechtshausen L, Olaya-Vargas A, Torres L. (2019) FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México. Mol Genet Genomic Med May 1:e710. PubMed ID: 31044565 |
| Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD. (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet Apr;54(4):595-601. PubMed ID: 8128956 |
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