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Abnormality of temperature regulation

MedGen UID:
330395
Concept ID:
C1832160
Finding
Synonym: Poor temperature regulation
 
HPO: HP:0004370

Definition

An abnormality of temperature homeostasis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of temperature regulation

Conditions with this feature

Joubert syndrome 35
MedGen UID:
1648453
Concept ID:
C4748442
Disease or Syndrome
Joubert syndrome-35 (JBTS35) is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement (Alkanderi et al., 2018). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
MedGen UID:
1672905
Concept ID:
C5193124
Disease or Syndrome
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019).
Deeah syndrome
MedGen UID:
1756624
Concept ID:
C5436579
Disease or Syndrome
DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
MedGen UID:
1781967
Concept ID:
C5543020
Disease or Syndrome
Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020).
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
MedGen UID:
1794285
Concept ID:
C5562075
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.
Stüve-Wiedemann syndrome 1
MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.

Professional guidelines

PubMed

Popov A, Ershova A, Podtaev S, Frick P, Zubareva N
J Clin Monit Comput 2017 Dec;31(6):1289-1297. Epub 2016 Nov 26 doi: 10.1007/s10877-016-9960-3. PMID: 27889842
Nakajima Y
J Anesth 2016 Oct;30(5):873-83. Epub 2016 Jun 28 doi: 10.1007/s00540-016-2200-7. PMID: 27351982
Wexler RK
Am Fam Physician 2002 Jun 1;65(11):2307-14. PMID: 12074531

Recent clinical studies

Etiology

Ishihara A, Courville AB, Chen KY
Nutrients 2023 Mar 14;15(6) doi: 10.3390/nu15061391. PMID: 36986120Free PMC Article
Fealey RD
Handb Clin Neurol 2018;157:777-787. doi: 10.1016/B978-0-444-64074-1.00048-3. PMID: 30459040
Chen R, Yin P, Wang L, Liu C, Niu Y, Wang W, Jiang Y, Liu Y, Liu J, Qi J, You J, Kan H, Zhou M
BMJ 2018 Oct 31;363:k4306. doi: 10.1136/bmj.k4306. PMID: 30381293Free PMC Article
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730
McBride JS, Altman DG, Klein M, White W
Tob Control 1998 Autumn;7(3):294-8. doi: 10.1136/tc.7.3.294. PMID: 9825425Free PMC Article

Diagnosis

Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578
Zhang X
Channels (Austin) 2015;9(2):73-81. doi: 10.1080/19336950.2015.1025186. PMID: 25868381Free PMC Article
Luo J, Hu H
Curr Top Membr 2014;74:325-64. doi: 10.1016/B978-0-12-800181-3.00012-9. PMID: 25366242
Gallup AC, Gallup GG Jr
Physiol Behav 2008 Sep 3;95(1-2):10-6. Epub 2008 May 13 doi: 10.1016/j.physbeh.2008.05.003. PMID: 18550130
Scheinfeld NS
Clin Dermatol 2004 Jul-Aug;22(4):303-9. doi: 10.1016/j.clindermatol.2004.01.001. PMID: 15475230

Therapy

Lindberg MF, Meijer L
Int J Mol Sci 2021 Jun 3;22(11) doi: 10.3390/ijms22116047. PMID: 34205123Free PMC Article
Chen R, Yin P, Wang L, Liu C, Niu Y, Wang W, Jiang Y, Liu Y, Liu J, Qi J, You J, Kan H, Zhou M
BMJ 2018 Oct 31;363:k4306. doi: 10.1136/bmj.k4306. PMID: 30381293Free PMC Article
Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578
Ramgopal S, Thome-Souza S, Loddenkemper T
Curr Neurol Neurosci Rep 2013 Apr;13(4):339. doi: 10.1007/s11910-013-0339-2. PMID: 23456771Free PMC Article
McBride JS, Altman DG, Klein M, White W
Tob Control 1998 Autumn;7(3):294-8. doi: 10.1136/tc.7.3.294. PMID: 9825425Free PMC Article

Prognosis

Khan S, Siddique R, Liu Y, Yong VW, Xue M
Int J Biol Sci 2024;20(2):403-413. Epub 2024 Jan 1 doi: 10.7150/ijbs.88370. PMID: 38169640Free PMC Article
Weber P, Meluzínová H, Prudius D, Bielaková K
Vnitr Lek 2018 Winter;64(11):1091-1097. PMID: 30606027
Chen R, Yin P, Wang L, Liu C, Niu Y, Wang W, Jiang Y, Liu Y, Liu J, Qi J, You J, Kan H, Zhou M
BMJ 2018 Oct 31;363:k4306. doi: 10.1136/bmj.k4306. PMID: 30381293Free PMC Article
Edefonti A, Tel F, Testa S, De Palma D
Semin Nucl Med 2014 Mar;44(2):123-8. doi: 10.1053/j.semnuclmed.2013.10.004. PMID: 24484749
Scheinfeld NS
Clin Dermatol 2004 Jul-Aug;22(4):303-9. doi: 10.1016/j.clindermatol.2004.01.001. PMID: 15475230

Clinical prediction guides

Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578
Edefonti A, Tel F, Testa S, De Palma D
Semin Nucl Med 2014 Mar;44(2):123-8. doi: 10.1053/j.semnuclmed.2013.10.004. PMID: 24484749
Miller MW, Ziskin MC
Ultrasound Med Biol 1989;15(8):707-22. doi: 10.1016/0301-5629(89)90111-7. PMID: 2694557
Norman DC, Grahn D, Yoshikawa TT
J Am Geriatr Soc 1985 Dec;33(12):859-63. doi: 10.1111/j.1532-5415.1985.tb05441.x. PMID: 3905926
Clarke BF, Ewing DJ, Campbell IW
Diabetologia 1979 Oct;17(4):195-212. doi: 10.1007/BF01235856. PMID: 387501

Recent systematic reviews

Makrides M, Crosby DD, Bain E, Crowther CA
Cochrane Database Syst Rev 2014 Apr 3;2014(4):CD000937. doi: 10.1002/14651858.CD000937.pub2. PMID: 24696187Free PMC Article
de Brito Poveda V, Clark AM, Galvão CM
J Clin Nurs 2013 Apr;22(7-8):906-18. Epub 2012 Sep 17 doi: 10.1111/j.1365-2702.2012.04287.x. PMID: 22978458
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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