Disorders of nucleotide excision repair [DS:H00403]
Description
Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H01428 Xeroderma pigmentosum
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06502 Nucleotide excision repair
H01428 Xeroderma pigmentosum
nt06508 Interstrand crosslink repair
H01428 Xeroderma pigmentosum
Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD
Title
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
Disorders of nucleotide excision repair [DS:H00403]
Description
Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2B Syndromes with premature ageing appearance as a major feature
H00076 Cockayne syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06502 Nucleotide excision repair
H00076 Cockayne syndrome
nt06508 Interstrand crosslink repair
H00076 Cockayne syndrome
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T
Title
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A70 Aplastic anaemia
H00238 Fanconi anemia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06502 Nucleotide excision repair
H00238 Fanconi anemia
nt06506 Double-strand break repair
H00238 Fanconi anemia
nt06508 Interstrand crosslink repair
H00238 Fanconi anemia
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC
Title
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M
Title
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
Harrison BA, Mizrahi-Powell E, Pappas J, Thomas K, Vasishta S, Hebbar S, Shukla A, Nayak SS, Truong TK, Woroch A, Kharbutli Y, Gelb BD, Mintz CS, Evrony GD, Smogorzewska A
Title
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
