KEGG   DISEASE: Congenital nongoitrous hypothyroidism (CHNG)Help
Entry
H00250                      Disease                                

Name
Congenital nongoitrous hypothyroidism (CHNG)
Description
Congenital nongoitrous hypothyroidism 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)
BRITE hierarchy
Pathway
hsa04918  Thyroid hormone synthesis
hsa04919  Thyroid hormone signaling pathway
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]
Drug
Levothyroxine sodium [DR:D01010]
Other DBs
ICD-11: 5A00.01
ICD-10: E03.1
MeSH: D003409
OMIM: 275200 218700 275100 225250 614450
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
Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK
  Title
Update of newborn screening and therapy for congenital hypothyroidism.
  Journal
Pediatrics 117:2290-303 (2006)
DOI:10.1542/peds.2006-0915
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
Gruters A, Krude H, Biebermann H
  Title
Molecular genetic defects in congenital hypothyroidism.
  Journal
Eur J Endocrinol 151 Suppl 3:U39-44 (2004)
DOI:10.1530/eje.0.151U039
Reference
  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

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