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Congenital Abnormalities of Erythrocyte Differentiation or Function

MedGen UID:: 363229
•Concept ID:: C1880167
•: Disease or Syndrome

Synonym:

Inherited Abnormalities of Erythrocyte Differentiation or Function

Definition

Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital Abnormalities of Erythrocyte Differentiation or Function

Disease
- Disorder by Site
  - Hematopoietic and Lymphatic System Disorder
    - Hematologic disorder
      - Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder
        Congenital hematological disorder
        Congenital Abnormalities of Erythrocyte Differentiation or Function

Professional guidelines

PubMed

Definition and Diagnostic Criteria for Sarcopenic Obesity: ESPEN and EASO Consensus Statement.

Donini LM, Busetto L, Bischoff SC, Cederholm T, Ballesteros-Pomar MD, Batsis JA, Bauer JM, Boirie Y, Cruz-Jentoft AJ, Dicker D, Frara S, Frühbeck G, Genton L, Gepner Y, Giustina A, Gonzalez MC, Han HS, Heymsfield SB, Higashiguchi T, Laviano A, Lenzi A, Nyulasi I, Parrinello E, Poggiogalle E, Prado CM, Salvador J, Rolland Y, Santini F, Serlie MJ, Shi H, Sieber CC, Siervo M, Vettor R, Villareal DT, Volkert D, Yu J, Zamboni M, Barazzoni R
Obes Facts 2022;15(3):321-335. Epub 2022 Feb 23 doi: 10.1159/000521241. PMID: 35196654 Free PMC Article

The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline.

Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr
J Clin Endocrinol Metab 2016 May;101(5):1889-916. Epub 2016 Mar 2 doi: 10.1210/jc.2015-4061. PMID: 26934393

Clinical practice guideline on diagnosis and treatment of hyponatraemia.

Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

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Recent clinical studies

Etiology

Epilepsy and Neuropsychology.

Janecek JK, Swanson SJ, Pillay S
Neurol Clin 2024 Nov;42(4):849-861. Epub 2024 Jun 15 doi: 10.1016/j.ncl.2024.05.009. PMID: 39343479

Stress and Inflammation in Coronary Artery Disease: A Review Psychoneuroendocrineimmunology-Based.

Fioranelli M, Bottaccioli AG, Bottaccioli F, Bianchi M, Rovesti M, Roccia MG
Front Immunol 2018;9:2031. Epub 2018 Sep 6 doi: 10.3389/fimmu.2018.02031. PMID: 30237802 Free PMC Article

A large drawing of a nephron for teaching medical students renal physiology, histology, and pharmacology.

Robinson PG, Newman D, Reitz CL, Vaynberg LZ, Bahga DK, Levitt MH
Adv Physiol Educ 2018 Jun 1;42(2):192-199. doi: 10.1152/advan.00022.2017. PMID: 29616568

Lateral stability and falls in older people.

Rogers MW, Mille ML
Exerc Sport Sci Rev 2003 Oct;31(4):182-7. doi: 10.1097/00003677-200310000-00005. PMID: 14571957

Comparative immunology.

Cooper EL
Curr Pharm Des 2003;9(2):119-31. doi: 10.2174/1381612033392297. PMID: 12570663

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Diagnosis

Epilepsy and Neuropsychology.

Janecek JK, Swanson SJ, Pillay S
Neurol Clin 2024 Nov;42(4):849-861. Epub 2024 Jun 15 doi: 10.1016/j.ncl.2024.05.009. PMID: 39343479

Diamond-Blackfan anemia.

Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Free PMC Article

Cardiac Optogenetics: 2018.

Boyle PM, Karathanos TV, Trayanova NA
JACC Clin Electrophysiol 2018 Feb;4(2):155-167. Epub 2018 Feb 1 doi: 10.1016/j.jacep.2017.12.006. PMID: 29749932 Free PMC Article

Electrophysiologic auditory tests.

Legatt AD
Handb Clin Neurol 2015;129:289-311. doi: 10.1016/B978-0-444-62630-1.00017-2. PMID: 25726276

GRAVES' DISEASE.

GREER MA
Annu Rev Med 1964;15:65-78. doi: 10.1146/annurev.me.15.020164.000433. PMID: 14139938

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Therapy

Sonoko Misawa.

Lancet Neurol 2016 Oct;15(11):1123. doi: 10.1016/S1474-4422(16)30209-5. PMID: 27647643

The PEDro scale is a valid measure of the methodological quality of clinical trials: a demographic study.

de Morton NA
Aust J Physiother 2009;55(2):129-33. doi: 10.1016/s0004-9514(09)70043-1. PMID: 19463084

Beyond genomics.

Dollery CT
Clin Pharmacol Ther 2007 Oct;82(4):366-70. doi: 10.1038/sj.clpt.6100363. PMID: 17851575

Clinical trials.

Giacinti L, Lopez M, Giordano A
Front Biosci 2006 Sep 1;11:2918-23. doi: 10.2741/2020. PMID: 16720363

Continuous or nocturnal oxygen therapy in hypoxemic chronic obstructive lung disease: a clinical trial. Nocturnal Oxygen Therapy Trial Group.

Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

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Prognosis

Neuromonitoring of recurrent laryngeal nerves in thyroid surgery comparative study of visualisation and electrophysiology methods.

Astl J, Holý R, Rotnágl J, Hložek J
Rozhl Chir 2021 Spring;100(3):113-117. doi: 10.33699/PIS.2021.100.3.113-117. PMID: 33910356

Epidemiology and one-year outcomes in patients with chronic heart failure and preserved, mid-range and reduced ejection fraction: an analysis of the ESC Heart Failure Long-Term Registry.

Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G
Eur J Heart Fail 2017 Dec;19(12):1574-1585. Epub 2017 Apr 6 doi: 10.1002/ejhf.813. PMID: 28386917

Congenital dyserythropoietic anemias.

Iolascon A, Russo R, Delaunay J
Curr Opin Hematol 2011 May;18(3):146-51. doi: 10.1097/MOH.0b013e32834521b0. PMID: 21378561

Long-term trends in allograft survival.

Brennan DC
Adv Chronic Kidney Dis 2006 Jan;13(1):11-7. doi: 10.1053/j.ackd.2005.10.006. PMID: 16412966

Reoperation after coronary bypass grafting.

Menkis AH, Carley SD, Clough TM
Can Fam Physician 1993 Feb;39:325-32. PMID: 8495123 Free PMC Article

See all (1535791)

Clinical prediction guides

Deep Learning-Derived Myocardial Strain.

Kwan AC, Chang EW, Jain I, Theurer J, Tang X, Francisco N, Haddad F, Liang D, Fábián A, Ferencz A, Yuan N, Merkely B, Siegel R, Cheng S, Kovács A, Tokodi M, Ouyang D
JACC Cardiovasc Imaging 2024 Jul;17(7):715-725. Epub 2024 Mar 27 doi: 10.1016/j.jcmg.2024.01.011. PMID: 38551533

Focused Cardiac Ultrasonography.

Spencer KT, Flachskampf FA
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1243-1253. doi: 10.1016/j.jcmg.2018.12.036. PMID: 31272607

Predictive validity and responsiveness of the functional ambulation category in hemiparetic patients after stroke.

Mehrholz J, Wagner K, Rutte K, Meissner D, Pohl M
Arch Phys Med Rehabil 2007 Oct;88(10):1314-9. doi: 10.1016/j.apmr.2007.06.764. PMID: 17908575

Explorations of anticipatory behavioral control (ABC): a report from the cognitive psychology unit of the University of Würzburg.

Hoffmann J, Berner M, Butz MV, Herbort O, Kiesel A, Kunde W, Lenhard A
Cogn Process 2007 Jun;8(2):133-42. Epub 2007 Apr 3 doi: 10.1007/s10339-007-0166-y. PMID: 17404767

The amputee mobility predictor: an instrument to assess determinants of the lower-limb amputee's ability to ambulate.

Gailey RS, Roach KE, Applegate EB, Cho B, Cunniffe B, Licht S, Maguire M, Nash MS
Arch Phys Med Rehabil 2002 May;83(5):613-27. doi: 10.1053/apmr.2002.32309. PMID: 11994800

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Recent systematic reviews

Effects of physical therapy-based rehabilitation on recovery of upper limb motor function after stroke in adults: a systematic review and meta-analysis of randomized controlled trials.

Huang J, Ji JR, Liang C, Zhang YZ, Sun HC, Yan YH, Xing XB
Ann Palliat Med 2022 Feb;11(2):521-531. doi: 10.21037/apm-21-3710. PMID: 35249330

Physical Activity and Cognitive Functioning of Children: A Systematic Review.

Bidzan-Bluma I, Lipowska M
Int J Environ Res Public Health 2018 Apr 19;15(4) doi: 10.3390/ijerph15040800. PMID: 29671803 Free PMC Article

Effects of balance and proprioceptive training on total hip and knee replacement rehabilitation: A systematic review and meta-analysis.

Domínguez-Navarro F, Igual-Camacho C, Silvestre-Muñoz A, Roig-Casasús S, Blasco JM
Gait Posture 2018 May;62:68-74. Epub 2018 Mar 5 doi: 10.1016/j.gaitpost.2018.03.003. PMID: 29525292

Pediatric Oral Motor Feeding Assessments: A Systematic Review.

Barton C, Bickell M, Fucile S
Phys Occup Ther Pediatr 2018 May;38(2):190-209. Epub 2017 Apr 21 doi: 10.1080/01942638.2017.1290734. PMID: 28430014

Green tea effects on cognition, mood and human brain function: A systematic review.

Mancini E, Beglinger C, Drewe J, Zanchi D, Lang UE, Borgwardt S
Phytomedicine 2017 Oct 15;34:26-37. Epub 2017 Jul 27 doi: 10.1016/j.phymed.2017.07.008. PMID: 28899506

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