KEGG   DISEASE: Brain-lung-thyroid syndromeHelp
Entry
H00913                      Disease                                

Name
Brain-lung-thyroid syndrome;
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Description
Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embrypgenesis.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H00913  Brain-lung-thyroid syndrome
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB04  Primary interstitial lung diseases specific to infancy or childhood
    H00913  Brain-lung-thyroid syndrome
BRITE hierarchy
Gene
NKX2-1 [HSA:7080] [KO:K09342]
Other DBs
ICD-11: CB04.5
ICD-10: E03.1
MeSH: C567034
OMIM: 610978
Reference
  Authors
Doyle DA, Gonzalez I, Thomas B, Scavina M
  Title
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
  Journal
J Pediatr 145:190-3 (2004)
DOI:10.1016/j.jpeds.2004.04.011
Reference
  Authors
Gruters A, Biebermann H, Krude H
  Title
Neonatal thyroid disorders.
  Journal
Horm Res 59 Suppl 1:24-9 (2003)
DOI:10.1159/000067841
Reference
  Authors
Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE
  Title
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
  Journal
Thyroid 18:1005-9 (2008)
DOI:10.1089/thy.2008.0085

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