Details of Disease

General Information of Disease (ID: DIS507FJ)

Disease Name Hypothyroidism due to TSH receptor mutations
Synonyms
thyrotropin resistance; hypothyroidism, congenital, due to TSH resistance; thyroid-stimulating hormone, resistance to; hypothyroidism due to unresponsiveness to thyrotropin; congenital nongoitrous hypothyroidism 1; congenital nongoitrous hypothryoidism 1; hypothyroidism, congenital, nongoitrous, 1; hypothyroidism, Nonautoimmune; CHNG1; hypothyroidism, congenital, nongoitrous, type 1; TSH resistance
Definition
Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DIS507FJ: Hypothyroidism due to TSH receptor mutations
Disease Identifiers
MONDO ID
MONDO_0010142
MESH ID
C576976
UMLS CUI
C3493776
OMIM ID
275200
MedGen ID
487729
Orphanet ID
90673
SNOMED CT ID
1230272009

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
TSHR TT6NYJA Limited Genetic Variation [1]
TSHR TT6NYJA Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TSHR OT0BC8LB Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.Clin Endocrinol (Oxf). 2017 Nov;87(5):587-596. doi: 10.1111/cen.13387. Epub 2017 Jul 6.
2 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80. doi: 10.1210/jcem.82.10.4286.