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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

Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.
Shribman S, Marjot T, Sharif A, Vimalesvaran S, Ala A, Alexander G, Dhawan A, Dooley J, Gillett GT, Kelly D, McNeill A, Warner TT, Wheater V, Griffiths W, Bandmann O; British Association for the Study of the Liver Rare Diseases Special Interest Group
Lancet Gastroenterol Hepatol 2022 Jun;7(6):560-575. Epub 2022 Apr 13 doi: 10.1016/S2468-1253(22)00004-8. PMID: 35429442
Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).
Rouzier C, Chaussenot A, Paquis-Flucklinger V
Arch Pediatr 2020 Dec;27(7S):7S9-7S14. doi: 10.1016/S0929-693X(20)30270-0. PMID: 33357600
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

Factor XIII Deficiency: A Review of Clinical Presentation and Management.
Pelcovits A, Schiffman F, Niroula R
Hematol Oncol Clin North Am 2021 Dec;35(6):1171-1180. Epub 2021 Oct 2 doi: 10.1016/j.hoc.2021.07.009. PMID: 34607717
Hereditary Hemochromatosis: Rapid Evidence Review.
Kane SF, Roberts C, Paulus R
Am Fam Physician 2021 Sep 1;104(3):263-270. PMID: 34523883
Diabetes and hemochromatosis.
Creighton Mitchell T, McClain DA
Curr Diab Rep 2014;14(5):488. doi: 10.1007/s11892-014-0488-y. PMID: 24682660
MUTYH-associated polyposis.
Sampson JR, Jones N
Best Pract Res Clin Gastroenterol 2009;23(2):209-18. doi: 10.1016/j.bpg.2009.03.006. PMID: 19414147
Non-HFE haemochromatosis.
Wallace DF, Subramaniam VN
World J Gastroenterol 2007 Sep 21;13(35):4690-8. doi: 10.3748/wjg.v13.i35.4690. PMID: 17729390Free PMC Article

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
Factor XIII Deficiency: A Review of Clinical Presentation and Management.
Pelcovits A, Schiffman F, Niroula R
Hematol Oncol Clin North Am 2021 Dec;35(6):1171-1180. Epub 2021 Oct 2 doi: 10.1016/j.hoc.2021.07.009. PMID: 34607717
Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.
Mccormick BJ, Chirila RM
Rom J Intern Med 2021 Dec 1;59(4):420-424. Epub 2021 Nov 20 doi: 10.2478/rjim-2021-0021. PMID: 34118800
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

Therapy

Wilson disease in children and young adults - State of the art.
Chanpong A, Dhawan A
Saudi J Gastroenterol 2022 Jan-Feb;28(1):21-31. doi: 10.4103/sjg.sjg_501_21. PMID: 35042319Free PMC Article
Designing Clinical Trials in Wilson's Disease.
Ott P, Ala A, Askari FK, Czlonkowska A, Hilgers RD, Poujois A, Roberts EA, Sandahl TD, Weiss KH, Ferenci P, Schilsky ML
Hepatology 2021 Dec;74(6):3460-3471. Epub 2021 Oct 5 doi: 10.1002/hep.32074. PMID: 34320232Free PMC Article
Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy.
Abreu NJ, Waldrop MA
Pediatr Pulmonol 2021 Apr;56(4):710-720. Epub 2020 Sep 14 doi: 10.1002/ppul.25055. PMID: 32886442
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
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948

Prognosis

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT, Anderson KC, Quintana JA, O'Neill MJ, Sims RA, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Ye F, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB
JAMA Cardiol 2021 Dec 1;6(12):1371-1379. doi: 10.1001/jamacardio.2021.3370. PMID: 34495297Free PMC Article
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
Eponym: Papillon-Lefevre syndrome.
Dalgıc B, Bukulmez A, Sarı S
Eur J Pediatr 2011 Jun;170(6):689-91. Epub 2010 Dec 17 doi: 10.1007/s00431-010-1367-4. PMID: 21165749
Cystic fibrosis.
Ratjen F, Döring G
Lancet 2003 Feb 22;361(9358):681-9. doi: 10.1016/S0140-6736(03)12567-6. PMID: 12606185
Haemochromatosis.
Worwood M
Clin Lab Haematol 1998 Apr;20(2):65-75. doi: 10.1046/j.1365-2257.1998.00028.x. PMID: 9681215

Clinical prediction guides

Wilson's disease: update on pathogenesis, biomarkers and treatments.
Shribman S, Poujois A, Bandmann O, Czlonkowska A, Warner TT
J Neurol Neurosurg Psychiatry 2021 Oct;92(10):1053-1061. Epub 2021 Aug 2 doi: 10.1136/jnnp-2021-326123. PMID: 34341141
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
MUTYH-associated polyposis.
Sampson JR, Jones N
Best Pract Res Clin Gastroenterol 2009;23(2):209-18. doi: 10.1016/j.bpg.2009.03.006. PMID: 19414147
Vitamin D-resistant diseases.
Liberman UA
J Bone Miner Res 2007 Dec;22 Suppl 2:V105-7. doi: 10.1359/jbmr.07s210. PMID: 18290711
Haemochromatosis.
Worwood M
Clin Lab Haematol 1998 Apr;20(2):65-75. doi: 10.1046/j.1365-2257.1998.00028.x. PMID: 9681215

Recent systematic reviews

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
What's new and what's next for gene therapy in Pompe disease?
Roger AL, Sethi R, Huston ML, Scarrow E, Bao-Dai J, Lai E, Biswas DD, El Haddad L, Strickland LM, Kishnani PS, ElMallah MK
Expert Opin Biol Ther 2022 Sep;22(9):1117-1135. Epub 2022 Apr 27 doi: 10.1080/14712598.2022.2067476. PMID: 35428407Free 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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