Chromosomal instability

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
277700 Werner syndrome (WRN) RECQL2 (WRN) premature aging, risk of malignant disease, chromosomal instability, eye or vision problem Werner WRN
613398 Warsaw breakage syndrome (WBRS) helicase DDX11 (CHLR1) microcephaly, skin problem, chromosomal instability, facial anomalies, growth retardation, deafness (hearing impairment) WBR syndrome
WBRS syndrome
WBRS DNA replication
614083 Fanconi anemia, complementation group L (FANCL) FANCL skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD FA-L
FAAP43
PHF9
Fanconi anemia (FA) pathway
218600 Baller-Gerold syndrome RECQL4 (RTS) premature aging, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
BGS
608089 endometrial cancer MSH2, MLH1, MSH6 gastrointestinal (GI) cancer, risk of malignant disease, chromosomal instability Fanconi anemia (FA) pathway, mismatch repair (MMR)
210900 Bloom syndrome RECQL3 (BLM) mental retardation (MR), skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, telangiectasia Bloom–Torre–Machacek syndrome BLM
BL
BLS
Fanconi anemia (FA) pathway, homologous recombination (HR)
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
254500 multiple myeloma (AL), resistance to LIG4 blood cell cancer, chromosomal instability, immunodeficiency SYSTEMIC AMYLOIDOSIS
AL AMYLOIDOSIS
AL non-homologous end-joining (NHEJ)
606593 LIG4 syndrome LIG4 mental retardation (MR), psychomotor impairment, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sensitivity to radiation, facial anomalies, growth retardation, microcephaly LIG4S
LIG4
non-homologous end-joining (NHEJ)
227645 Fanconi anemia, complementation group C (FANCC) FANCC skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI PANCYTOPENIA, TYPE 3 FANCC
FACC
FAC
FA3
Fanconi anemia (FA) pathway
227646 Fanconi anemia, complementation group D2 (FANCD2) FANCD2 skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents FANCONI ANEMIA, COMPLEMENTATION GROUP D
FANCONI PANCYTOPENIA, TYPE 4
FANCD2
FANCD
FACD
FAD2
FA4
Fanconi anemia (FA) pathway
603467 Fanconi anemia, complementation group F (FANCF) FANCF skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCF
FA-F
Fanconi anemia (FA) pathway
604391 ataxia-telangiectasia-like disorder (ATLD) MRE11A sensitivity to radiation, NO CANCER development, chromosomal instability ATLD homologous recombination (HR), non-homologous end-joining (NHEJ)
614087 Fanconi anemia, complementation group M (FANCM) FANCM skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FA-M
FAAP250
Fanconi anemia (FA) pathway
278760 xeroderma pigmentosum, complementation group F (XPF) ERCC4 (XPF) sensitivity to radiation, chromosomal instability XPF Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
251260 Nijmegen breakage syndrome (NBS) NBN (NBS1) microcephaly, risk of malignant disease, chromosomal instability, sensitivity to radiation, growth retardation, immunodeficiency ATAXIA-TELANGIECTASIA VARIANT V1
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
SEEMANOVA SYNDROME II
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
BERLIN BREAKAGE SYNDROME
ATAXIA-TELANGIECTASIA VARIANT V2
NBS
AT-V1
BBS
AT-V2
homologous recombination (HR)
605724 Fanconi anemia, complementation group D1 (FANCD1) BRCA2 (FANCD1) blood cell cancer, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability Fanconi D1 FANCD1
FAD1
Fanconi anemia (FA) pathway, homologous recombination (HR)
600901 Fanconi anemia, complementation group E (FANCE) FANCE skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCE
FACE
Fanconi anemia (FA) pathway
614082 Fanconi anemia, complementation group G (FANCG) FANCG (XRCC9) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCG
FAG
FA-G
Fanconi anemia (FA) pathway
609054 Fanconi anemia, complementation group J (FANCJ) BACH1/BRIP1 (FANCJ) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCJ
FAJ
FA-J
Fanconi anemia (FA) pathway
300514 Fanconi anemia, complementation group B (FANCB) FANCB skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE 95-KD FANCB
FA-B
FAAP95
FAAP90
FLJ34064
Fanconi anemia (FA) pathway
227650 Fanconi anemia, complementation group A (FANCA) FANCA skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCA GENE FANCA
FA-A
FACA
FAA
Fanconi anemia (FA) pathway
609053 Fanconi anemia, complementation group I (FANCI) FANCI skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCI Fanconi anemia (FA) pathway
314390 X-linked VACTERL-H (XVACTERL-H) FANCB skeletal abnormalities, chromosomal instability VACTERL-H, X-LINKED VACTERL Fanconi anemia (FA) pathway
610832 Fanconi anemia, complementation group N (FANCN) FANCN (PALB2) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure Fanconi N FA-N Fanconi anemia (FA) pathway
613078 Nijmegen breakage syndrome-like disorder (NBSLD) RAD50 microcephaly, chromosomal instability, sensitivity to radiation, facial anomalies, growth retardation NBS-like disorder
RAD50 deficiency
NBSLD homologous recombination (HR), non-homologous end-joining (NHEJ)

Last modification date: July 1, 2011