KEGG   DISEASE: Congenital nongoitrous hypothyroidism (CHNG)
Entry
H00250                      Disease                                
Name
Congenital nongoitrous hypothyroidism (CHNG)
Description
Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H00250  Congenital nongoitrous hypothyroidism (CHNG)
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the thyroid gland or thyroid hormones system
    5A00  Hypothyroidism
     H00250  Congenital nongoitrous hypothyroidism (CHNG)
Related
pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04918  Thyroid hormone synthesis
hsa04923  Regulation of lipolysis in adipocytes
Network
nt06322  TRH-TSH-TH signaling
Gene
(CHNG1) TSHR [HSA:7253] [KO:K04249]
(CHNG2) PAX8 [HSA:7849] [KO:K09293]
(CHNG4) TSHB [HSA:7252] [KO:K05251]
(CHNG5) NKX2-5 [HSA:1482] [KO:K09345]
(CHNG6) THRA [HSA:7067] [KO:K05547]
(CHNG7) TRHR [HSA:7201] [KO:K04282]
(CHNG8) TBL1X [HSA:6907] [KO:K04508]
(CHNG9) IRS4 [HSA:8471] [KO:K17446]
Drug
Levothyroxine sodium [DR:D01010]
Other DBs
ICD-11: 5A00.01
ICD-10: E03.1
MeSH: D003409
OMIM: 275200 218700 275100 225250 614450 618573 301033 301035
Reference
  Authors
Gruters A, Krude H
  Title
Update on the management of congenital hypothyroidism.
  Journal
Horm Res 68 Suppl 5:107-11 (2007)
DOI:10.1159/000110591
Reference
  Authors
Park SM, Chatterjee VK
  Title
Genetics of congenital hypothyroidism.
  Journal
J Med Genet 42:379-89 (2005)
DOI:10.1136/jmg.2004.024158
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
PMID:7528344 (CHNG1)
  Authors
Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S
  Title
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
  Journal
N Engl J Med 332:155-60 (1995)
DOI:10.1056/NEJM199501193320305
Reference
PMID:9590296 (CHNG2)
  Authors
Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R
  Title
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
  Journal
Nat Genet 19:83-6 (1998)
DOI:10.1038/ng0598-83
Reference
PMID:2792087 (CHNG4)
  Authors
Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K
  Title
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.
  Journal
EMBO J 8:2291-6 (1989)
DOI:10.1002/j.1460-2075.1989.tb08355.x
Reference
PMID:16418214 (CHNG5)
  Authors
Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE
  Title
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
  Journal
J Clin Endocrinol Metab 91:1428-33 (2006)
DOI:10.1210/jc.2005-1350
Reference
PMID:25670821 (CHNG6)
  Authors
Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH
  Title
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA).
  Journal
J Med Genet 52:312-6 (2015)
DOI:10.1136/jmedgenet-2014-102936
Reference
PMID:9141550 (CHNG7)
  Authors
Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G
  Title
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
  Journal
J Clin Endocrinol Metab 82:1561-5 (1997)
DOI:10.1210/jcem.82.5.3918
Reference
PMID:30591955 (CHNG8)
  Authors
Garcia M, Barreda-Bonis AC, Jimenez P, Rabanal I, Ortiz A, Vallespin E, Del Pozo A, Martinez-San Millan J, Gonzalez-Casado I, Moreno JC
  Title
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.
  Journal
J Endocr Soc 3:119-128 (2019)
DOI:10.1210/js.2018-00144
Reference
PMID:30061370 (CHNG9)
  Authors
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E
  Title
Mutations in IRS4 are associated with central hypothyroidism.
  Journal
J Med Genet 55:693-700 (2018)
DOI:10.1136/jmedgenet-2017-105113
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