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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
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
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

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
Werner's syndrome.
Duvic M, Lemak NA
Dermatol Clin 1995 Jan;13(1):163-8. PMID: 7712642

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
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
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
ALAD porphyria.
Sassa S
Semin Liver Dis 1998;18(1):95-101. doi: 10.1055/s-2007-1007145. PMID: 9516683

Therapy

A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M
Biomolecules 2023 Aug 22;13(9) doi: 10.3390/biom13091279. PMID: 37759679Free PMC Article
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
Pulmonary Alveolar Microlithiasis.
Shaw BM, Shaw SD, McCormack FX
Semin Respir Crit Care Med 2020 Apr;41(2):280-287. Epub 2020 Apr 12 doi: 10.1055/s-0040-1702211. PMID: 32279298
Plasminogen deficiency.
Celkan T
J Thromb Thrombolysis 2017 Jan;43(1):132-138. doi: 10.1007/s11239-016-1416-6. PMID: 27629020
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

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
Wilson's Disease in China.
Xie JJ, Wu ZY
Neurosci Bull 2017 Jun;33(3):323-330. Epub 2017 Mar 6 doi: 10.1007/s12264-017-0107-4. PMID: 28265897Free PMC Article
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

Clinical prediction guides

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.
Łusakowska A, Wójcik A, Frączek A, Aragon-Gawińska K, Potulska-Chromik A, Baranowski P, Nowak R, Rosiak G, Milczarek K, Konecki D, Gierlak-Wójcicka Z, Burlewicz M, Kostera-Pruszczyk A
Orphanet J Rare Dis 2023 Aug 4;18(1):230. doi: 10.1186/s13023-023-02769-4. PMID: 37542300Free PMC Article
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

Recent systematic reviews

CRISPR/Cas9, a promising approach for the treatment of β-thalassemia: a systematic review.
Khiabani A, Kohansal MH, Keshavarzi A, Shahraki H, Kooshesh M, Karimzade M, Gholizadeh Navashenaq J
Mol Genet Genomics 2023 Jan;298(1):1-11. Epub 2022 Nov 20 doi: 10.1007/s00438-022-01978-z. PMID: 36403178
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
The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972
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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