Details of Disease

General Information of Disease (ID: DISAWYSM)

Disease Name Isolated thyroid-stimulating hormone deficiency
Synonyms
pituitary cretinism; hypothyroidism, congenital, nongoitrous, 4; TSH deficiency; congenital nongoitrous hypothryoidism 4; thyrotropin, biologically inactive; thyrotropin deficiency, isolated; thyroid-stimulating hormone deficiency; congenital nongoitrous hypothyroidism 4; thyroid-stimulating hormone, deficiency of; hypothyroidism, congenital, nongoitrous, type 4; hypothyroidism, congenital, nongoitrous 4; CHNG4; isolated TSH deficiency; isolated thyrotropin deficiency
Definition
Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DIS6FWEW: Central congenital hypothyroidism
DISFF2OX: Non-acquired pituitary hormone deficiency
DISAWYSM: Isolated thyroid-stimulating hormone deficiency
Disease Identifiers
MONDO ID
MONDO_0010139
MESH ID
C000603735
UMLS CUI
C0271789
OMIM ID
275100
MedGen ID
78786
Orphanet ID
90674

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TSHB OTFDI39D Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. EMBO J. 1989 Aug;8(8):2291-6. doi: 10.1002/j.1460-2075.1989.tb08355.x.