Details of Disease

General Information of Disease (ID: DIS8F8F5)

• Disease Name: Familial hyperthyroidism due to mutations in TSH receptor
• Synonyms: hyperthyroidism, Nonautoimmune, autosomal dominant; Nonautoimmune hyperthyroidism; hyperthyroidism, NONAUTOIMMUNE; toxic thyroid hyperplasia, autosomal dominant; hyperthyroidism, congenital Nonautoimmune; familial non-immune hyperthyroidism; resistance to thyroid stimulating hormone
• Definition: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISX87ZH: Hyperthyroidism
  DIS8F8F5: Familial hyperthyroidism due to mutations in TSH receptor
• Disease Identifiers:
  MONDO ID: MONDO_0012203
  MESH ID: C563786
  UMLS CUI: C1836706
  OMIM ID: 609152
  MedGen ID: 373154
  Orphanet ID: 424

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TSHR	TT6NYJA	Disputed	Biomarker	[1]
TSHR	TT6NYJA	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TSHR	OT0BC8LB	Strong	Autosomal dominant	[2]

References

• [1] A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7. J Clin Endocrinol Metab. 2014 Oct;99(10):E2051-9. doi: 10.1210/jc.2014-1436. Epub 2014 Jun 20.
• [2] Mutations in the mouse TSH receptor equivalent to human constitutively activating TSH receptor mutations also cause constitutive activity. Horm Metab Res. 2001 May;33(5):263-9. doi: 10.1055/s-2001-15119.