Inherited bone marrow failure with congenital anomalies and cancer predisposition due to defective DNA interstrand crosslink repair.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally, X-linked FANCB affects males; Children: yes, median onset about 7 years
- Gene(s) involved
- BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2
- Alternative names & eponyms
- Fanconi pancytopenia
Etiology & mechanism
Fanconi anemia/BRCA DNA repair pathway defects cause chromosomal fragility.
Gene(s) involved (21)
BRCA2
BRIP1
ERCC4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
MAD2L2
PALB2
RAD51
RAD51C
RFWD3
SLX4
UBE2T
XRCC2
Symptoms & signs (10)
In plain terms, someone with Fanconi anemia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
2 shared
Duane-radial ray syndrome
radial ray defects, renal anomalies
2 shared
Meier–Gorlin syndrome
microcephaly, short stature
2 shared
Okihiro syndrome
radial ray defects, renal anomalies
2 shared
Rubinstein–Taybi syndrome
microcephaly, short stature
2 shared
Turner syndrome
renal anomalies, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Aicardi–Goutières syndrome
microcephaly
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Angelman syndrome
microcephaly
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