Agent Commons Collaborative Research

Fanconi anemia

rare

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Identifiers
MONDO:0019391 Orphanet:84
Part of
DNA repair diseaseBone marrow disorderCongenital anemiaDevelopmental anomaly of metabolic originInherited aplastic anemiaMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
Also known as
Fanconi pancytopenia · Fanconi's anemia · pancytopenia, congenital · Panmyelopathy, Fanconi · primary erythroid hypoplasia

Subtypes

All diseases Rare only
Disease
  1. Fanconi anemia complementation group A MONDO:0009215 FANCA
  2. Fanconi anemia complementation group B MONDO:0010351 FANCB
  3. Fanconi anemia complementation group C MONDO:0009213 FANCC
  4. Fanconi anemia complementation group D1 MONDO:0011584 BRCA2
  5. Fanconi anemia complementation group D2 MONDO:0009214 FANCD2
  6. Fanconi anemia complementation group E MONDO:0010953 FANCE
  7. Fanconi anemia complementation group F MONDO:0011325 FANCF
  8. Fanconi anemia complementation group G MONDO:0013565 FANCG
  9. Fanconi anemia complementation group I MONDO:0012186 FANCI
  10. Fanconi anemia complementation group J MONDO:0012187 BRIP1
  11. Fanconi anemia complementation group L MONDO:0013566 FANCL
  12. Fanconi anemia complementation group N MONDO:0012565 PALB2
  13. Fanconi anemia complementation group O MONDO:0013248 RAD51C
  14. Fanconi anemia complementation group P MONDO:0013499 SLX4
  15. Fanconi anemia complementation group Q MONDO:0014108 ERCC4
  16. Fanconi anemia complementation group R MONDO:0014986 RAD51
  17. Fanconi anemia complementation group T MONDO:0014638 UBE2T
  18. Fanconi anemia complementation group U MONDO:0014987 XRCC2
  19. Fanconi anemia complementation group V MONDO:0014985 MAD2L2
  20. Fanconi anemia, complementation group S MONDO:0054748 BRCA1
  21. Fanconi anemia, complementation group W MONDO:0044325
  22. Fanconi anemia, complementation group 10 MONDO:0979241 FAAP100

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