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Thyrocerebrorenal syndrome

MedGen UID:: 341311
•Concept ID:: C1848813
•: Disease or Syndrome

Synonyms:	Cutler-Bass-Romshe syndrome; Thyrocerebral-retinal syndrome; Thyrocerebroretinal syndrome
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010128
OMIM®:	274240
Orphanet:	ORPHA3327

Definition

A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. [from ORDO]

Clinical features

From HPO

Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

See: Feature record | Search on this feature

Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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Myoclonus

MedGen UID:: 10234
•Concept ID:: C0027066
•: Finding

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Slurred speech

MedGen UID:: 65885
•Concept ID:: C0234518
•: Finding

Abnormal coordination of muscles involved in speech.

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Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

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Muscular atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

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Nephritis

MedGen UID:: 14328
•Concept ID:: C0027697
•: Disease or Syndrome

The presence of inflammation affecting the kidney.

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Goiter

MedGen UID:: 42270
•Concept ID:: C0018021
•: Disease or Syndrome

An enlargement of the thyroid gland.

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Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Abnormality of the endocrine system
- Goiter
Abnormality of the immune system
- Nephritis
Abnormality of the musculoskeletal system
- Muscular atrophy
Abnormality of the nervous system
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThyrocerebrorenal syndrome

Syndromic renal or urinary tract malformation
- Thyrocerebrorenal syndrome

Follow this link to review classifications for Thyrocerebrorenal syndrome in Orphanet.

Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.

Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685 Free PMC Article

Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099 Free PMC Article

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

Identification of a robust DNA methylation signature for Fanconi anemia.

Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Am J Hum Genet 2023 Nov 2;110(11):1938-1949. Epub 2023 Oct 20 doi: 10.1016/j.ajhg.2023.09.014. PMID: 37865086 Free PMC Article

Acute kidney injury in neurocritical care.

Husain-Syed F, Takeuchi T, Neyra JA, Ramírez-Guerrero G, Rosner MH, Ronco C, Tolwani AJ
Crit Care 2023 Sep 3;27(1):341. doi: 10.1186/s13054-023-04632-1. PMID: 37661277 Free PMC Article

Eyes and the heart: what a clinician should know.

Ng JY, Zarook E, Nicholson L; Oculi-Cordis group, Khanji MY, Chahal CAA
Heart 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. PMID: 37507215 Free PMC Article

Reversible cerebral vasoconstriction syndrome: A review of pathogenesis, clinical presentation, and treatment.

Singhal AB
Int J Stroke 2023 Dec;18(10):1151-1160. Epub 2023 Jun 12 doi: 10.1177/17474930231181250. PMID: 37246916

Long COVID or post-COVID-19 syndrome: putative pathophysiology, risk factors, and treatments.

Yong SJ
Infect Dis (Lond) 2021 Oct;53(10):737-754. Epub 2021 May 22 doi: 10.1080/23744235.2021.1924397. PMID: 34024217 Free PMC Article

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Diagnosis

Disorders of gastric motility.

Shin A
Lancet Gastroenterol Hepatol 2024 Nov;9(11):1052-1064. Epub 2024 Sep 20 doi: 10.1016/S2468-1253(24)00231-0. PMID: 39312926

Behçet's Disease, Pathogenesis, Clinical Features, and Treatment Approaches: A Comprehensive Review.

Lavalle S, Caruso S, Foti R, Gagliano C, Cocuzza S, La Via L, Parisi FM, Calvo-Henriquez C, Maniaci A
Medicina (Kaunas) 2024 Mar 29;60(4) doi: 10.3390/medicina60040562. PMID: 38674208 Free PMC Article

Gasdermins in sepsis.

Wang W, He Z
Front Immunol 2023;14:1203687. Epub 2023 Nov 3 doi: 10.3389/fimmu.2023.1203687. PMID: 38022612 Free PMC Article

Refeeding Syndrome in Pediatric Age, An Unknown Disease: A Narrative Review.

Corsello A, Trovato CM, Dipasquale V, Bolasco G, Labriola F, Gottrand F, Verduci E, Diamanti A, Romano C
J Pediatr Gastroenterol Nutr 2023 Dec 1;77(6):e75-e83. Epub 2023 Sep 14 doi: 10.1097/MPG.0000000000003945. PMID: 37705405 Free PMC Article

Reversible cerebral vasoconstriction syndrome: A review of pathogenesis, clinical presentation, and treatment.

Singhal AB
Int J Stroke 2023 Dec;18(10):1151-1160. Epub 2023 Jun 12 doi: 10.1177/17474930231181250. PMID: 37246916

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Therapy

Syndrome Differentiation and Treatment Regularity in Traditional Chinese Medicine for Type 2 Diabetes: A Text Mining Analysis.

Dou Z, Xia Y, Zhang J, Li Y, Zhang Y, Zhao L, Huang Z, Sun H, Wu L, Han D, Liu Y
Front Endocrinol (Lausanne) 2021;12:728032. Epub 2021 Dec 23 doi: 10.3389/fendo.2021.728032. PMID: 35002950 Free PMC Article

Application of Stem Cell Therapy for Infertility.

Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240 Free PMC Article

Sunflower syndrome: a poorly understood photosensitive epilepsy.

Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153

Practical Treatment Considerations in the Management of Genitourinary Syndrome of Menopause.

Kagan R, Kellogg-Spadt S, Parish SJ
Drugs Aging 2019 Oct;36(10):897-908. doi: 10.1007/s40266-019-00700-w. PMID: 31452067 Free PMC Article

Effectiveness of Therapeutic Exercise in Fibromyalgia Syndrome: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.

Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206 Free PMC Article

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Prognosis

ROSAH syndrome mimicking chronic uveitis.

Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I
Clin Genet 2023 Apr;103(4):453-458. Epub 2022 Dec 30 doi: 10.1111/cge.14286. PMID: 36543582

Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.

Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544 Free PMC Article

Toxic anterior segment syndrome-an updated review.

Park CY, Lee JK, Chuck RS
BMC Ophthalmol 2018 Oct 25;18(1):276. doi: 10.1186/s12886-018-0939-3. PMID: 30359246 Free PMC Article

Juvenile acanthosis nigricans.

Sinha S, Schwartz RA
J Am Acad Dermatol 2007 Sep;57(3):502-8. Epub 2007 Jun 25 doi: 10.1016/j.jaad.2006.08.016. PMID: 17592743

Sedentary death syndrome.

Lees SJ, Booth FW
Can J Appl Physiol 2004 Aug;29(4):447-60; discussion 444-6. doi: 10.1139/h04-029. PMID: 15317985

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Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551

Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.

Valle L, Monahan KJ
Lancet Gastroenterol Hepatol 2024 Jan;9(1):68-82. Epub 2023 Nov 4 doi: 10.1016/S2468-1253(23)00240-6. PMID: 37931640

Diagnostic Accuracy of the Aortic Dissection Detection Risk Score Plus D-Dimer for Acute Aortic Syndromes: The ADvISED Prospective Multicenter Study.

Nazerian P, Mueller C, Soeiro AM, Leidel BA, Salvadeo SAT, Giachino F, Vanni S, Grimm K, Oliveira MT Jr, Pivetta E, Lupia E, Grifoni S, Morello F; ADvISED Investigators
Circulation 2018 Jan 16;137(3):250-258. Epub 2017 Oct 13 doi: 10.1161/CIRCULATIONAHA.117.029457. PMID: 29030346

Genetic generalized epilepsies.

Gallentine WB, Mikati MA
J Clin Neurophysiol 2012 Oct;29(5):408-19. doi: 10.1097/WNP.0b013e31826bd92a. PMID: 23027098

Validation of a new coma scale: The FOUR score.

Wijdicks EF, Bamlet WR, Maramattom BV, Manno EM, McClelland RL
Ann Neurol 2005 Oct;58(4):585-93. doi: 10.1002/ana.20611. PMID: 16178024

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Recent systematic reviews

Mirror syndrome: a systematic literature review.

Biswas S, Gomez J, Horgan R, Sibai BM, Saad A, Powel JE, Al-Kouatly HB
Am J Obstet Gynecol MFM 2023 Sep;5(9):101067. Epub 2023 Jun 28 doi: 10.1016/j.ajogmf.2023.101067. PMID: 37385374

Congenital Zika syndrome: A systematic review.

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867 Free PMC Article

Effectiveness of Therapeutic Exercise in Fibromyalgia Syndrome: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.

Cannabinoid Hyperemesis Syndrome: Diagnosis, Pathophysiology, and Treatment-a Systematic Review.

Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146 Free PMC Article

Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.

Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340

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MedGen

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Thyrocerebrorenal syndrome

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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