Sensitivity to radiation

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
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)
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
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)
604391 ataxia-telangiectasia-like disorder (ATLD) MRE11A sensitivity to radiation, NO CANCER development, chromosomal instability ATLD homologous recombination (HR), non-homologous end-joining (NHEJ)
600630 UV-sensitive syndrome (UVS) ERCC6 (CSB) sensitivity to radiation, NO CANCER development UVS nucleotide excision repair (NER)
278730 xeroderma pigmentosum, complementation group D (XPD) ERCC2 (XPD) sensitivity to radiation XERODERMA PIGMENTOSUM IV
XP, GROUP D
XPD
XPDC
XP4
nucleotide excision repair (NER), transcription factors
278720 xeroderma pigmentosum, complementation group C (XPC) XPC risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer XERODERMA PIGMENTOSUM III
XP, GROUP C
XPC
XPCC
XP3
nucleotide excision repair (NER)
610651 xeroderma pigmentosum, complementation group B (XPB) ERCC3 (XPB) sensitivity to radiation, skin cancer XPB
XPBC
nucleotide excision repair (NER), transcription factors
278760 xeroderma pigmentosum, complementation group F (XPF) ERCC4 (XPF) sensitivity to radiation, chromosomal instability XPF Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
278700 xeroderma pigmentosum, complementation group A (XPA) XPA neurodegenerative disease, skin problem, sensitivity to radiation, skin cancer XERODERMA PIGMENTOSUM I
XP, GROUP A
XPA
XP1
nucleotide excision repair (NER)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB 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)
611943 RIDDLE syndrome RNF168 mental retardation (MR), psychomotor impairment, sensitivity to radiation, facial anomalies, immunodeficiency RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES RIDDLE
602450 severe combined immunodeficiency with radiation sensitivity (RS-SCID) DCLRE1C (Artemis) sensitivity to radiation, immunodeficiency severe combined immunodeficiency with sensitivity to ionizing radiation
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
RS-SCID non-homologous end-joining (NHEJ)
611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID) NHEJ1 (Cernunnos) microcephaly, neurodegenerative disease, skeletal abnormalities, sensitivity to radiation, growth retardation, immunodeficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHEJ1-SCID non-homologous end-joining (NHEJ)
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