Details of Disease | DrugMAP

General Information of Disease (ID: DISGJDXU)

Disease Name	Thyroid dyshormonogenesis 3
Synonyms	familial thyroid dyshormonogenesis caused by mutation in TG; TG familial thyroid dyshormonogenesis; TDH3; thyroid hormonogenesis, genetic defect in, 3; thyroid dyshormonogenesis type 3; thyroid dyshormonogenesis 3; hypothyroidism, congenital, due to dyshormonogenesis, 3
Definition	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.
Disease Hierarchy	DISWR94R: Inherited thyroid metabolism disease DISALTXN: Familial thyroid dyshormonogenesis DISGJDXU: Thyroid dyshormonogenesis 3
Disease Identifiers	MONDO ID MONDO_0010135 MESH ID C562769 UMLS CUI C0342194 OMIM ID 274700 MedGen ID 90976 SNOMED CT ID 23536000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TG	OT3ELHIJ	Strong	Autosomal recessive	[1]
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References

1	Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab. 2003 Aug;88(8):3546-53. doi: 10.1210/jc.2002-021744.