KEGG DISEASE: Congenital nongoitrous hypothyroidism (CHNG)

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 and metabolic disease

Brite

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)
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06322  TRH-TSH-TH signaling
   H00250  Congenital nongoitrous hypothyroidism (CHNG)
  nt06325  Hormone/cytokine signaling
   H00250  Congenital nongoitrous hypothyroidism (CHNG)

Pathway

hsa04080

Neuroactive ligand-receptor interaction

hsa04918

Thyroid hormone synthesis

hsa04923

Regulation of lipolysis in adipocytes

Network

nt06322 TRH-TSH-TH signaling
nt06325 Hormone/cytokine 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]
Liothyronine sodium [DR:D01011]

Other DBs

ICD-11:

5A00.01

ICD-10:

E03.1

MeSH:

D003409

OMIM:

275200 218700 275100 225250 614450 618573 301033 301035

Reference

PMID:18174723

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

PMID:15863666

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

PMID:30324792

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

LinkDB

» Japanese version

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