Details of Disease

General Information of Disease (ID: DIS6FWEW)

Disease Name Central congenital hypothyroidism
Synonyms secondary hypothyroidism; hypothalamic-pituitary hypothyroidism; central hypothyroidism; thyroid stimulating hormone deficiency; TSH deficiency; thyrotropin deficiency
Definition
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
Disease Hierarchy
:
DIS6FWEW: Central congenital hypothyroidism
Disease Identifiers
MONDO ID
MONDO_0016410
UMLS CUI
C4302200
MedGen ID
927869
Orphanet ID
226298
SNOMED CT ID
722938007

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
TRHR TT4J8MF Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IGSF1 OT3XD6U2 Strong Biomarker [2]
SERPINA7 OTUYVTSU Strong Altered Expression [3]
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References

1 Mutations in TBL1X Are Associated With Central Hypothyroidism. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7.
2 A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):355-359. doi: 10.1515/jpem-2017-0144.
3 Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency.Horm Res Paediatr. 2017;88(5):331-338. doi: 10.1159/000479367. Epub 2017 Sep 14.