Details of Disease | DrugMAP

General Information of Disease (ID: DIS74XBI)

Disease Name	Thyroid dyshormonogenesis 2A
Synonyms	iodide peroxidase deficiency; thyroid peroxidase deficiency; familial thyroid dyshormonogenesis caused by mutation in TPO; thyroid dyshormonogenesis type 2A; thyroid dyshormonogenesis 2A; thyroid hormonogenesis, genetic defect in, 2A; hypothyroidism, congenital, due to dyshormonogenesis, 2A; TDH2A; TPO familial thyroid dyshormonogenesis
Definition	Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.
Disease Hierarchy	DISWR94R: Inherited thyroid metabolism disease DISALTXN: Familial thyroid dyshormonogenesis DIS74XBI: Thyroid dyshormonogenesis 2A
Disease Identifiers	MONDO ID MONDO_0010133 MESH ID C563206 UMLS CUI C1291299 OMIM ID 274500 MedGen ID 226940 SNOMED CT ID 124204003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TPO	TT52XDZ	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TPO	DEXL6TZ	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TPO	OTJJLL20	Strong	Autosomal recessive	[2]
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References

1	High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):807-12. doi: 10.1515/jpem-2015-0400.
2	Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12. doi: 10.1210/jcem.85.10.6878.