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Hypothermia

MedGen UID:
5720
Concept ID:
C0020672
Finding; Finding
Synonym: Abnormally low body temperature
SNOMED CT: Hypothermia (386689009); Body temperature below normal (386689009); Decreased body temperature (386689009); State of hypothermia (386689009); Temperature subnormal (386689009)
 
HPO: HP:0002045

Definition

Reduced body temperature due to failed thermoregulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypothermia

Conditions with this feature

Menkes kinky-hair syndrome
MedGen UID:
44030
Concept ID:
C0022716
Disease or Syndrome
Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes.
Thyroid hypoplasia
MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Ectopic thyroid
MedGen UID:
78591
Concept ID:
C0266283
Congenital Abnormality
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Thyroid agenesis
MedGen UID:
155447
Concept ID:
C0749420
Congenital Abnormality
A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Thyroid dysgenesis
MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality
A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.
Deficiency of 2-methylbutyryl-CoA dehydrogenase
MedGen UID:
355324
Concept ID:
C1864912
Disease or Syndrome
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al., 2008).
Hypothyroidism, congenital, nongoitrous
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Thyroid hormone resistance, generalized, autosomal dominant
MedGen UID:
424846
Concept ID:
C2937288
Disease or Syndrome
Thyroid hormone resistance syndrome
MedGen UID:
424854
Concept ID:
C2940786
Disease or Syndrome
Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.
Mitochondrial DNA-depletion syndrome 3, hepatocerebral
MedGen UID:
462863
Concept ID:
C3151513
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Impaired sensitivity to thyroid hormone
MedGen UID:
1654700
Concept ID:
C4722330
Disease or Syndrome
Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.
Combined oxidative phosphorylation deficiency 37
MedGen UID:
1675208
Concept ID:
C5193031
Disease or Syndrome
Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
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).
Developmental and epileptic encephalopathy, 78
MedGen UID:
1684724
Concept ID:
C5231409
Disease or Syndrome
Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by Butler et al., 2018). One family with an attenuated disease course has been reported (Maljevic et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome

Recent clinical studies

Etiology

Li L, Chen X, Ma W, Li Y
Ann Palliat Med 2021 Sep;10(9):9564-9571. doi: 10.21037/apm-21-1925. PMID: 34628882
Elmimehr R, Motamed-Sanaye A, Brazvan B, Abtahi-Eivary SH, Moghimian M, Fani M
Andrologia 2021 Sep;53(8):e14143. Epub 2021 Jun 11 doi: 10.1111/and.14143. PMID: 34115392
Rittenberger JC, Weissman A, Flickinger KL, Guyette FX, Hopkins D, Repine MJ, Dezfulian C, Doshi AA, Elmer J, Sawyer KN, Callaway CW
Resuscitation 2021 Jul;164:79-83. Epub 2021 Jun 1 doi: 10.1016/j.resuscitation.2021.05.020. PMID: 34087418Free PMC Article
Ribeiro JC, Bellusse GC, Martins de Freitas IC, Galvão CM
Int J Nurs Pract 2021 Aug;27(4):e12934. Epub 2021 Apr 5 doi: 10.1111/ijn.12934. PMID: 33817902
Lapostolle F, Garrigue B, Richard O, Weisslinger L, Chollet C, Lagadec S, Soulat L, Ricard-Hibon A, Hilaire-Schneider C, Debaty G, Mazur V, Vicaut E
J Adv Nurs 2021 Jun;77(6):2908-2915. Epub 2021 Mar 19 doi: 10.1111/jan.14818. PMID: 33739487

Diagnosis

Li L, Chen X, Ma W, Li Y
Ann Palliat Med 2021 Sep;10(9):9564-9571. doi: 10.21037/apm-21-1925. PMID: 34628882
Rousseau G, Chao de la Barca JM, Rougé-Maillart C, Teresiński G, Chabrun F, Dieu X, Drevin G, Mirebeau-Prunier D, Simard G, Reynier P, Palmiere C
J Proteome Res 2021 May 7;20(5):2390-2396. Epub 2021 Apr 5 doi: 10.1021/acs.jproteome.0c00901. PMID: 33818108
Cohen IJ
Med Hypotheses 2021 Mar;148:110503. Epub 2021 Jan 23 doi: 10.1016/j.mehy.2021.110503. PMID: 33540142
Travers CP, Ramani M, Gentle SJ, Schuyler A, Brown C, Dills MM, Davis CB, Mwenechanya M, Chomba E, Aban I, Manasyan A, Ambalavanan N, Carlo WA
J Pediatr 2021 Apr;231:55-60.e1. Epub 2020 Dec 26 doi: 10.1016/j.jpeds.2020.12.064. PMID: 33373672
Zhang Z, Inman C, Waters D, Dee P
J Clin Nurs 2020 Dec;29(23-24):4429-4439. Epub 2020 Sep 10 doi: 10.1111/jocn.15463. PMID: 32841437

Therapy

Li L, Chen X, Ma W, Li Y
Ann Palliat Med 2021 Sep;10(9):9564-9571. doi: 10.21037/apm-21-1925. PMID: 34628882
Elmimehr R, Motamed-Sanaye A, Brazvan B, Abtahi-Eivary SH, Moghimian M, Fani M
Andrologia 2021 Sep;53(8):e14143. Epub 2021 Jun 11 doi: 10.1111/and.14143. PMID: 34115392
Rittenberger JC, Weissman A, Flickinger KL, Guyette FX, Hopkins D, Repine MJ, Dezfulian C, Doshi AA, Elmer J, Sawyer KN, Callaway CW
Resuscitation 2021 Jul;164:79-83. Epub 2021 Jun 1 doi: 10.1016/j.resuscitation.2021.05.020. PMID: 34087418Free PMC Article
Ukrani RD, Arif A, Sadruddin A, Hasan O, Noordin S
BMC Musculoskelet Disord 2021 May 31;22(1):504. doi: 10.1186/s12891-021-04390-7. PMID: 34059046Free PMC Article
Lapostolle F, Garrigue B, Richard O, Weisslinger L, Chollet C, Lagadec S, Soulat L, Ricard-Hibon A, Hilaire-Schneider C, Debaty G, Mazur V, Vicaut E
J Adv Nurs 2021 Jun;77(6):2908-2915. Epub 2021 Mar 19 doi: 10.1111/jan.14818. PMID: 33739487

Prognosis

Lee S, Kim KS, Park SW, You AH, Lee SW, Kim YJ, Kim M, Lee JY, Choi JH
Medicina (Kaunas) 2021 Apr 8;57(4) doi: 10.3390/medicina57040364. PMID: 33917932Free PMC Article
Rousseau G, Chao de la Barca JM, Rougé-Maillart C, Teresiński G, Chabrun F, Dieu X, Drevin G, Mirebeau-Prunier D, Simard G, Reynier P, Palmiere C
J Proteome Res 2021 May 7;20(5):2390-2396. Epub 2021 Apr 5 doi: 10.1021/acs.jproteome.0c00901. PMID: 33818108
Cohen IJ
Med Hypotheses 2021 Mar;148:110503. Epub 2021 Jan 23 doi: 10.1016/j.mehy.2021.110503. PMID: 33540142
Dietrichs ES, Selli AL, Kondratiev T, McGlynn K, Smith G, Tveita T
Cryobiology 2021 Feb;98:33-38. Epub 2021 Jan 4 doi: 10.1016/j.cryobiol.2021.01.003. PMID: 33412156
Ramgopal S, Horvat CM, Adler MD
J Crit Care 2020 Dec;60:27-31. Epub 2020 Jul 16 doi: 10.1016/j.jcrc.2020.07.011. PMID: 32731103Free PMC Article

Clinical prediction guides

Horioka K, Tanaka H, Okaba K, Yamada S, Ishii N, Motomura A, Inoue H, Alkass K, Druid H, Yajima D
Thromb Res 2021 Sep;205:47-55. Epub 2021 Jul 3 doi: 10.1016/j.thromres.2021.06.023. PMID: 34247097
Elmimehr R, Motamed-Sanaye A, Brazvan B, Abtahi-Eivary SH, Moghimian M, Fani M
Andrologia 2021 Sep;53(8):e14143. Epub 2021 Jun 11 doi: 10.1111/and.14143. PMID: 34115392
Rousseau G, Chao de la Barca JM, Rougé-Maillart C, Teresiński G, Chabrun F, Dieu X, Drevin G, Mirebeau-Prunier D, Simard G, Reynier P, Palmiere C
J Proteome Res 2021 May 7;20(5):2390-2396. Epub 2021 Apr 5 doi: 10.1021/acs.jproteome.0c00901. PMID: 33818108
Lapostolle F, Garrigue B, Richard O, Weisslinger L, Chollet C, Lagadec S, Soulat L, Ricard-Hibon A, Hilaire-Schneider C, Debaty G, Mazur V, Vicaut E
J Adv Nurs 2021 Jun;77(6):2908-2915. Epub 2021 Mar 19 doi: 10.1111/jan.14818. PMID: 33739487
Karakuş SC, Süzen A, Yenisey Ç, Ertürk N, Epikmen T, İpek E, User İR, Abas Bİ
J Pediatr Urol 2021 Jun;17(3):291.e1-291.e8. Epub 2021 Feb 4 doi: 10.1016/j.jpurol.2021.01.045. PMID: 33610458

Recent systematic reviews

Li L, Chen X, Ma W, Li Y
Ann Palliat Med 2021 Sep;10(9):9564-9571. doi: 10.21037/apm-21-1925. PMID: 34628882
Öner Cengiz H, Uçar S, Yilmaz M
AORN J 2021 Mar;113(3):265-275. doi: 10.1002/aorn.13327. PMID: 33646586
Zhang Z, Inman C, Waters D, Dee P
J Clin Nurs 2020 Dec;29(23-24):4429-4439. Epub 2020 Sep 10 doi: 10.1111/jocn.15463. PMID: 32841437
Mydske S, Thomassen Ø
Scand J Trauma Resusc Emerg Med 2020 Aug 10;28(1):77. doi: 10.1186/s13049-020-00773-2. PMID: 32778153Free PMC Article
Beletew B, Mengesha A, Wudu M, Abate M
BMC Pediatr 2020 Apr 3;20(1):148. doi: 10.1186/s12887-020-02024-w. PMID: 32245438Free PMC Article

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