KEGG DISEASE: Xeroderma pigmentosum

DISEASE: Xeroderma pigmentosum

Entry

H01428                      Disease

Name

Xeroderma pigmentosum

Supergrp

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

Pathway

hsa03420

Nucleotide excision repair

Network

nt06502 Nucleotide excision repair
nt06508 Interstrand crosslink repair

Gene

(XPA) XPA [HSA:7507] [KO:K10847]
(XPB) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPF) ERCC4 [HSA:2072] [KO:K10848]
(XPG) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]

Comment

Disorder of DNA repair system

Other DBs

ICD-11:

LD27.1

ICD-10:

Q82.1

MeSH:

D014983

OMIM:

278700 610651 278720 278730 278740 278760 278780 278750

Reference

PMID:19809470

Authors

Cleaver JE, Lam ET, Revet I

Title

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Journal

Nat Rev Genet 10:756-68 (2009)
DOI:10.1038/nrg2663

Reference

PMID:2234061 (XPA)

Authors

Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y

Title

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.

Journal

Nature 348:73-6 (1990)
DOI:10.1038/348073a0

Reference

PMID:2167179 (ERCC3)

Authors

Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH

Title

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.

Journal

Cell 62:777-91 (1990)
DOI:10.1016/0092-8674(90)90122-u

Reference

PMID:8298653 (XPC)

Authors

Li L, Bales ES, Peterson CA, Legerski RJ

Title

Characterization of molecular defects in xeroderma pigmentosum group C.

Journal

Nat Genet 5:413-7 (1993)
DOI:10.1038/ng1293-413

Reference

PMID:7849702 (ERCC2)

Authors

Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC

Title

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

Journal

Hum Mol Genet 3:1783-8 (1994)
DOI:10.1093/hmg/3.10.1783

Reference

PMID:8798680 (DDB2)

Authors

Nichols AF, Ong P, Linn S

Title

Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.

Journal

J Biol Chem 271:24317-20 (1996)
DOI:10.1074/jbc.271.40.24317

Reference

PMID:8797827 (ERCC4)

Authors

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.

Journal

Cell 86:811-22 (1996)
DOI:10.1016/s0092-8674(00)80155-5

Reference

PMID:7951246 (ERCC5)

Authors

Nouspikel T, Clarkson SG

Title

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

Journal

Hum Mol Genet 3:963-7 (1994)
DOI:10.1093/hmg/3.6.963

Reference

PMID:10385124 (POLH)

Authors

Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F

Title

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

Journal

Nature 399:700-4 (1999)
DOI:10.1038/21447

LinkDB

» Japanese version

DISEASE: Trichothiodystrophy

Entry

H00866                      Disease

Name

Trichothiodystrophy

Supergrp

Disorders of nucleotide excision repair [DS:H00403]

Description

Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.

Category

Skin disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00866  Trichothiodystrophy
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06502  Nucleotide excision repair
   H00866  Trichothiodystrophy

Pathway

hsa03022

Basal transcription factors

hsa03420

Nucleotide excision repair

Network

nt06502 Nucleotide excision repair

Gene

(TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]

Other DBs

ICD-11:

EC21.1

ICD-10:

L67.8

MeSH:

D054463

OMIM:

601675 616390 616395 234050 300953 616943 618546 619691 619692

Reference

PMID:9195225 (ERCC2)

Authors

Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA

Title

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

Journal

Hum Mutat 9:519-25 (1997)
DOI:10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X

Reference

PMID:9012405 (ERCC3)

Authors

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A

Title

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Journal

Am J Hum Genet 60:320-9 (1997)

Reference

PMID:15220921 (GTF2H5)

Authors

Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W

Title

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

Journal

Nat Genet 36:714-9 (2004)
DOI:10.1038/ng1387

Reference

PMID:15645389 (MPLKIP)

Authors

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW

Title

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Journal

Am J Hum Genet 76:510-6 (2005)
DOI:10.1086/428141

Reference

PMID:25612912 (RNF113A)

Authors

Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M

Title

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Journal

J Med Genet 52:269-74 (2015)
DOI:10.1136/jmedgenet-2014-102418

Reference

PMID:26996949 (GTF2E2)

Authors

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M

Title

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Journal

Am J Hum Genet 98:627-42 (2016)
DOI:10.1016/j.ajhg.2016.02.008

Reference

PMID:31374204 (TARS1)

Authors

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D

Title

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Journal

Am J Hum Genet 105:434-440 (2019)
DOI:10.1016/j.ajhg.2019.06.017

Reference

PMID:33909043 (AARS1 MARS1)

Authors

Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W

Title

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Journal

Hum Mol Genet 30:1711-1720 (2021)
DOI:10.1093/hmg/ddab123

LinkDB

» Japanese version

DISEASE: Cerebro-oculo-facio-skeletal syndrome

Entry

H02570                      Disease

Name

Cerebro-oculo-facio-skeletal syndrome

Description

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6.