Details of Disease

General Information of Disease (ID: DISCAAEX)

• Disease Name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
• Definition: Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
• Disease Hierarchy:
  DIS6FWEW: Central congenital hypothyroidism
  DISCAAEX: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
• Disease Identifiers:
  MONDO ID: MONDO_0016411
  UMLS CUI: C4273672
  MedGen ID: 900830
  Orphanet ID: 226307
  SNOMED CT ID: 718194004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HESX1	OT5E2Z4G	Supportive	Autosomal dominant	[1]
LHX3	OTQ5BAJ9	Supportive	Autosomal dominant	[1]
LHX4	OTVX3J6S	Supportive	Autosomal dominant	[1]
POU1F1	OTXT8A5C	Supportive	Autosomal dominant	[1]
PROP1	OT8GF6N8	Supportive	Autosomal dominant	[1]

References

• [1] Congenital hypothyroidism. Orphanet J Rare Dis. 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17.