Details of Disease | DrugMAP

General Information of Disease (ID: DISALTXN)

Disease Name	Familial thyroid dyshormonogenesis
Synonyms	dyshormonogenesis; nongoitrous hyperthyrotropinemia; thyroid dyshormonogenesis
Definition	A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Disease Hierarchy	DIS71G5H: Metabolic disorder DISL5XVU: Congenital hypothyroidism DISALTXN: Familial thyroid dyshormonogenesis
Disease Identifiers	MONDO ID MONDO_0010132 UMLS CUI C4273748 MedGen ID 903446 Orphanet ID 95716 SNOMED CT ID 718183003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A5	DTZAH46	Supportive	Autosomal recessive	[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	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DUOX2	OTU14HCN	Supportive	Autosomal recessive	[1]
DUOXA2	OT7AZBZJ	Supportive	Autosomal recessive	[1]
IYD	OT8BQWTE	Supportive	Autosomal recessive	[1]
SLC5A5	OTU7E9G7	Supportive	Autosomal recessive	[1]
TG	OT3ELHIJ	Supportive	Autosomal recessive	[1]
TPO	OTJJLL20	Supportive	Autosomal recessive	[1]
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⏷ Show the Full List of 6 DOT(s)

References

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