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Autosomal Recessive Disorder

MedGen UID:
859582
•Concept ID:
C3899988
•
Disease or Syndrome

Definition

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal Recessive Disorder

Professional guidelines

PubMed

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E
Orphanet J Rare Dis 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. PMID: 37069638Free PMC Article
Wilson's disease: best practice.
Ryan A, Twomey PJ, Cook P
J Clin Pathol 2023 Jul;76(7):435-441. Epub 2023 Apr 12 doi: 10.1136/jcp-2022-208551. PMID: 37045587
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

Recent clinical studies

Etiology

Xeroderma Pigmentosum - Facts and Perspectives.
Lehmann J, Seebode C, Martens MC, Emmert S
Anticancer Res 2018 Feb;38(2):1159-1164. doi: 10.21873/anticanres.12335. PMID: 29374753
Diabetes and hemochromatosis.
Creighton Mitchell T, McClain DA
Curr Diab Rep 2014;14(5):488. doi: 10.1007/s11892-014-0488-y. PMID: 24682660
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Giant axonal neuropathy.
Yang Y, Allen E, Ding J, Wang W
Cell Mol Life Sci 2007 Mar;64(5):601-9. doi: 10.1007/s00018-007-6396-4. PMID: 17256086Free PMC Article
Bloom's syndrome.
Gretzula JC, Hevia O, Weber PJ
J Am Acad Dermatol 1987 Sep;17(3):479-88. doi: 10.1016/s0190-9622(87)70233-3. PMID: 3655026

Diagnosis

Wilson's disease: best practice.
Ryan A, Twomey PJ, Cook P
J Clin Pathol 2023 Jul;76(7):435-441. Epub 2023 Apr 12 doi: 10.1136/jcp-2022-208551. PMID: 37045587
Alkaptonuric Ochronosis.
Singh O, Muthukrishna Pandian R, Sudhakar Kekre N
Urology 2017 Feb;100:e3-e4. Epub 2016 Nov 2 doi: 10.1016/j.urology.2016.09.035. PMID: 27816602
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Rabson-Mendenhall syndrome.
Gupta J, Daniel JM, Vasudevan V
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):279-82. doi: 10.4103/0970-4388.105026. PMID: 23263437
ALAD porphyria.
Sassa S
Semin Liver Dis 1998;18(1):95-101. doi: 10.1055/s-2007-1007145. PMID: 9516683

Therapy

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK, Neven J, Bael A, Meuwissen MEC, van den Akker M
Orphanet J Rare Dis 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x. PMID: 37710296Free PMC Article
Xeroderma Pigmentosum - Facts and Perspectives.
Lehmann J, Seebode C, Martens MC, Emmert S
Anticancer Res 2018 Feb;38(2):1159-1164. doi: 10.21873/anticanres.12335. PMID: 29374753
Nusinersen: First Global Approval.
Hoy SM
Drugs 2017 Mar;77(4):473-479. doi: 10.1007/s40265-017-0711-7. PMID: 28229309
Plasminogen deficiency.
Celkan T
J Thromb Thrombolysis 2017 Jan;43(1):132-138. doi: 10.1007/s11239-016-1416-6. PMID: 27629020
Population screening for Wilson's disease.
Hahn SH
Ann N Y Acad Sci 2014 May;1315:64-9. Epub 2014 Apr 14 doi: 10.1111/nyas.12423. PMID: 24731025

Prognosis

Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Xeroderma Pigmentosum - Facts and Perspectives.
Lehmann J, Seebode C, Martens MC, Emmert S
Anticancer Res 2018 Feb;38(2):1159-1164. doi: 10.21873/anticanres.12335. PMID: 29374753
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Cystic fibrosis.
Ratjen F, Döring G
Lancet 2003 Feb 22;361(9358):681-9. doi: 10.1016/S0140-6736(03)12567-6. PMID: 12606185
Bloom's syndrome.
Gretzula JC, Hevia O, Weber PJ
J Am Acad Dermatol 1987 Sep;17(3):479-88. doi: 10.1016/s0190-9622(87)70233-3. PMID: 3655026

Clinical prediction guides

TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham EL, Angireddy R, Black A, Melendez-Perez A, Smith S, Gonzalez EM, Navarro KG, Díaz A, Bhoj EJK, Katsura KA
Trends Mol Med 2023 Oct;29(10):783-785. Epub 2023 Jul 14 doi: 10.1016/j.molmed.2023.06.009. PMID: 37455236Free PMC Article
Cystic fibrosis: current therapeutic targets and future approaches.
Rafeeq MM, Murad HAS
J Transl Med 2017 Apr 27;15(1):84. doi: 10.1186/s12967-017-1193-9. PMID: 28449677Free PMC Article
Haemochromatosis.
Worwood M
Clin Lab Haematol 1998 Apr;20(2):65-75. doi: 10.1046/j.1365-2257.1998.00028.x. PMID: 9681215
The cytogenetics of ataxia telangiectasia.
Kojis TL, Gatti RA, Sparkes RS
Cancer Genet Cytogenet 1991 Oct 15;56(2):143-56. doi: 10.1016/0165-4608(91)90164-p. PMID: 1756458
Ataxia telangiectasia.
Teplitz RL
Arch Neurol 1978 Sep;35(9):553-4. doi: 10.1001/archneur.1978.00500330001001. PMID: 687181

Recent systematic reviews

Oral manifestations of Chediak-Higashi syndrome: A systematic review.
de Arruda JAA, Sousa-Neto SS, Abreu LG, Schuch LF, Souza VG, Alves TVL, Martins-Andrade B, Shetty SS, Monteiro JLGC, Mendonça EF, Mesquita RA, Callou G
Dis Mon 2023 Jan;69(1):101356. Epub 2022 Apr 10 doi: 10.1016/j.disamonth.2022.101356. PMID: 35414415
Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
Brambullo T, Colonna MR, Vindigni V, Piaserico S, Masciopinto G, Galeano M, Costa AL, Bassetto F
Biomed Res Int 2022;2022:8549532. Epub 2022 Jul 18 doi: 10.1155/2022/8549532. PMID: 35898688Free PMC Article
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E, Dewailly D, Escobar-Morreale HF, Kelestimur F, Moran C, Oberfield S, Witchel SF, Azziz R
Hum Reprod Update 2017 Sep 1;23(5):580-599. doi: 10.1093/humupd/dmx014. PMID: 28582566
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

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