Details of Disease

General Information of Disease (ID: DISAXKZN)

Disease Name Familial thyroid dyshormonogenesis 1
Synonyms
TDH1; iodine accumulation, transport, or trapping defect; thyroid dyshormonogenesis type 1; hypothyroidism, congenital, due to dyshormonogenesis, 1; thyroid hormonogenesis, genetic defect in, 1; thyroid dyshormonogenesis 1
Disease Hierarchy
DISWR94R: Inherited thyroid metabolism disease
DISALTXN: Familial thyroid dyshormonogenesis
DISAXKZN: Familial thyroid dyshormonogenesis 1
Disease Identifiers
MONDO ID
MONDO_0020716
MESH ID
C564766
UMLS CUI
C1848805
OMIM ID
274400
MedGen ID
336422

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC5A5 TTW7HI9 moderate Biomarker [1]
TPO TT52XDZ Strong GermlineCausalMutation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC5A5 DTZAH46 Definitive Autosomal recessive [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DUOX2 OTU14HCN Strong GermlineCausalMutation [2]
DUOXA2 OT7AZBZJ Strong GermlineCausalMutation [2]
IYD OT8BQWTE Strong GermlineCausalMutation [2]
TG OT3ELHIJ Strong GermlineCausalMutation [2]
SLC5A5 OTU7E9G7 Definitive Autosomal recessive [3]
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References

1 MicroRNAs let7 expression in thyroid cancer: correlation with their deputed targets HMGA2 and SLC5A5.J Cancer Res Clin Oncol. 2016 Jun;142(6):1213-20. doi: 10.1007/s00432-016-2138-z. Epub 2016 Mar 9.
2 Genetic causes of congenital hypothyroidism due to dyshormonogenesis.Curr Opin Pediatr. 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4.
3 Congenital hypothyroidism caused by defective iodide transport. J Pediatr. 1985 Jun;106(6):950-3. doi: 10.1016/s0022-3476(85)80249-3.