Details of Disease

General Information of Disease (ID: DIS1X6NZ)

Disease Name Hypothyroidism, congenital, nongoitrous, 5
Synonyms
congenital nongoitrous hypothyroidism 5; congenital nongoitrous hypothryoidism 5; CHNG5; hypothyroidism, congenital, nongoitrous, type 5; NKX2-5 hypothyroidism, congenital, nongoitrous; hypothyroidism, congenital nongoitrous, 5; hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5; hypothyroidism, congenital, nongoitrous, 5
Definition Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DIS1X6NZ: Hypothyroidism, congenital, nongoitrous, 5
Disease Identifiers
MONDO ID
MONDO_0009154
MESH ID
C567123
UMLS CUI
C2673630
OMIM ID
225250
MedGen ID
388687

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
NKX2-5 OTS1SAWM Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006 Apr;91(4):1428-33. doi: 10.1210/jc.2005-1350. Epub 2006 Jan 17.