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DNA Repair-Deficiency Disorders

MedGen UID:: 327583
•Concept ID:: C1563696
•: Disease or Syndrome

Synonyms:

Disorder, DNA Repair-Deficiency; Disorders, DNA Repair-Deficiency; DNA Repair Deficiency Disorders; DNA Repair-Deficiency Disorder

Definition

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDNA Repair-Deficiency Disorders

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Metabolic disease
        DNA Repair-Deficiency Disorders
        Ataxia-telangiectasia syndrome
        Bloom syndrome
        Cockayne syndrome
        Cockayne syndrome type 1
        Cockayne syndrome type 2
        Cockayne syndrome type 3
        COFS syndrome
        Cerebrooculofacioskeletal syndrome 1
        Cerebrooculofacioskeletal syndrome 4
        Fanconi anemia
        Fanconi anemia complementation group A
        Fanconi anemia, Estren-Dameshek variant
        Fanconi anemia complementation group B
        Fanconi anemia complementation group C
        Fanconi anemia complementation group D1
        Fanconi anemia complementation group D2
        Fanconi anemia complementation group E
        Fanconi anemia complementation group F
        Fanconi anemia complementation group G
        Fanconi anemia complementation group I
        Fanconi anemia complementation group J
        Fanconi anemia complementation group L
        Fanconi anemia complementation group N
        Fanconi anemia complementation group O
        Fanconi anemia complementation group P
        Fanconi anemia, complementation group M
        Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome
        Hereditary nonpolyposis colorectal neoplasms
        Colorectal cancer, hereditary nonpolyposis, type 2
        Muir-Torré syndrome
        Li-Fraumeni syndrome
        Li-Fraumeni syndrome 1
        Li-Fraumeni syndrome 2
        Microcephaly, normal intelligence and immunodeficiency
        Rothmund-Thomson syndrome
        Rothmund-Thomson syndrome type 1
        Rothmund-Thomson syndrome type 2
        Severe combined immunodeficiency disease
        Adenosine deaminase deficiency
        Athabaskan severe combined immunodeficiency
        Histiocytic medullary reticulosis
        Leaky Severe Combined Immunodeficiency
        MHC Class II Deficiency
        Purine-nucleoside phosphorylase deficiency
        SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)
        MHC class I deficiency
        MHC class II deficiency
        Severe combined immunodeficiency due to DNA-PKcs deficiency
        Severe Combined Immunodeficiency with Absence of T and B Cells
        Severe Combined Immunodeficiency due to RAG1 Deficiency
        Severe Combined Immunodeficiency due to RAG2 Deficiency
        Severe Combined Immunodeficiency with Absence of T, Normal B Cells
        Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
        Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive
        Severe Combined Immunodeficiency due to CD45 Deficiency
        Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
        T-B+ severe combined immunodeficiency due to JAK3 deficiency
        X-linked severe combined immunodeficiency
        Werner syndrome
        Xeroderma pigmentosum
        ERCC1-Related Xeroderma Pigmentosum
        Xeroderma pigmentosum group A
        Xeroderma pigmentosum group B
        Xeroderma pigmentosum variant type
        Xeroderma pigmentosum, group C
        Xeroderma pigmentosum, group D
        Xeroderma pigmentosum, group E
        Xeroderma pigmentosum, group F
        Xeroderma pigmentosum, group G

Professional guidelines

PubMed

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):539-546. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.022. PMID: 36456361 Free PMC Article

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group
Dev Med Child Neurol 2017 Jul;59(7):680-689. Epub 2017 Mar 20 doi: 10.1111/dmcn.13424. PMID: 28318010

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574 Free PMC Article

See all (1065)

Recent clinical studies

Etiology

Somatic mutations in neurodegeneration: An update.

Proukakis C
Neurobiol Dis 2020 Oct;144:105021. Epub 2020 Jul 24 doi: 10.1016/j.nbd.2020.105021. PMID: 32712267

The resounding effect of DNA repair deficiency in prostate cancer.

Cheng HH
Urol Oncol 2018 Aug;36(8):385-388. Epub 2018 Mar 17 doi: 10.1016/j.urolonc.2018.02.014. PMID: 29555412 Free PMC Article

DNA repair deficiency in neurodegeneration.

Jeppesen DK, Bohr VA, Stevnsner T
Prog Neurobiol 2011 Jul;94(2):166-200. Epub 2011 Apr 30 doi: 10.1016/j.pneurobio.2011.04.013. PMID: 21550379 Free PMC Article

Cerebro-oculo-facio-skeletal syndrome.

Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Hereditary photodermatoses.

Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

See all (62)

Diagnosis

DNA repair deficiency and the immune microenvironment: A pathways perspective.

Zhou Y, Mouw KW
DNA Repair (Amst) 2024 Jan;133:103594. Epub 2023 Nov 13 doi: 10.1016/j.dnarep.2023.103594. PMID: 37980867 Free PMC Article

Chromosome instability syndromes.

Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS
Nat Rev Dis Primers 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. PMID: 31537806 Free PMC Article

Disorders of nucleotide excision repair.

Rapin I
Handb Clin Neurol 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. PMID: 23622385

Hereditary photodermatoses.

Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Primary immunodeficiencies associated with DNA-repair disorders.

Slatter MA, Gennery AR
Expert Rev Mol Med 2010 Mar 18;12:e9. doi: 10.1017/S1462399410001419. PMID: 20298636

See all (88)

Therapy

Emerging hyperthermia applications for pediatric oncology.

Tydings C, Sharma KV, Kim A, Yarmolenko PS
Adv Drug Deliv Rev 2020;163-164:157-167. Epub 2020 Oct 24 doi: 10.1016/j.addr.2020.10.016. PMID: 33203538

Biomarkers for Homologous Recombination Deficiency in Cancer.

Hoppe MM, Sundar R, Tan DSP, Jeyasekharan AD
J Natl Cancer Inst 2018 Jul 1;110(7):704-713. doi: 10.1093/jnci/djy085. PMID: 29788099

DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.

Dhawan M, Ryan CJ, Ashworth A
Oncologist 2016 Aug;21(8):940-5. Epub 2016 Jun 17 doi: 10.1634/theoncologist.2016-0135. PMID: 27317574 Free PMC Article

Hereditary photodermatoses.

Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Primary immunodeficiencies associated with DNA-repair disorders.

Slatter MA, Gennery AR
Expert Rev Mol Med 2010 Mar 18;12:e9. doi: 10.1017/S1462399410001419. PMID: 20298636

See all (36)

Prognosis

Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns.

Sørensen SG, Shrikhande A, Poulsgaard GA, Christensen MH, Bertl J, Laursen BE, Hoffmann ER, Pedersen JS
Elife 2023 Mar 8;12 doi: 10.7554/eLife.81224. PMID: 36883553 Free PMC Article

The resounding effect of DNA repair deficiency in prostate cancer.

Cheng HH
Urol Oncol 2018 Aug;36(8):385-388. Epub 2018 Mar 17 doi: 10.1016/j.urolonc.2018.02.014. PMID: 29555412 Free PMC Article

DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'.

Nahas SA, Gatti RA
Curr Opin Allergy Clin Immunol 2009 Dec;9(6):510-6. doi: 10.1097/ACI.0b013e328332be17. PMID: 19858715

DNA damage and repair: from molecular mechanisms to health implications.

Altieri F, Grillo C, Maceroni M, Chichiarelli S
Antioxid Redox Signal 2008 May;10(5):891-937. doi: 10.1089/ars.2007.1830. PMID: 18205545

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370 Free PMC Article

See all (26)

Clinical prediction guides

Pathological consequences of DNA damage in the kidney.

Garaycoechea JI, Quinlan C, Luijsterburg MS
Nat Rev Nephrol 2023 Apr;19(4):229-243. Epub 2023 Jan 26 doi: 10.1038/s41581-022-00671-z. PMID: 36702905

What is behind "centromere repositioning"?

Schubert I
Chromosoma 2018 Jun;127(2):229-234. Epub 2018 Apr 28 doi: 10.1007/s00412-018-0672-y. PMID: 29705818

The resounding effect of DNA repair deficiency in prostate cancer.

Cheng HH
Urol Oncol 2018 Aug;36(8):385-388. Epub 2018 Mar 17 doi: 10.1016/j.urolonc.2018.02.014. PMID: 29555412 Free PMC Article

DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.

Dhawan M, Ryan CJ, Ashworth A
Oncologist 2016 Aug;21(8):940-5. Epub 2016 Jun 17 doi: 10.1634/theoncologist.2016-0135. PMID: 27317574 Free PMC Article

DNA strand break repair and neurodegeneration.

Rulten SL, Caldecott KW
DNA Repair (Amst) 2013 Aug;12(8):558-67. Epub 2013 May 24 doi: 10.1016/j.dnarep.2013.04.008. PMID: 23712058

See all (46)

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DNA Repair-Deficiency Disorders

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Practice guidelines

Related information

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