Details of Disease

General Information of Disease (ID: DISS8CHO)

Disease Name Hypothyroidism, congenital, nongoitrous, 2
Synonyms
congenital nongoitrous hypothryoidism 2; thyroid dysgenesis; congenital nongoitrous hypothyroidism 2; thyrotropin resistance; thyroid hypoplasia; athyreotic hypothyroidism; resistance to thyrotropin; hypothyroidism, athyreotic; thyroid, ectopic; thyroid agenesis; hypothyroidism, congenital, due to thyroid dysgenesis; congenital hypothyroidism due to thyroid dysgenesis or hypoplasia; CHNG2; hypothyroidism, congenital, nongoitrous, 2; hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Definition A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DISS8CHO: Hypothyroidism, congenital, nongoitrous, 2
Disease Identifiers
MONDO ID
MONDO_0024264
MESH ID
C566852
UMLS CUI
C1869118
OMIM ID
218700
MedGen ID
358389

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
PAX8 OTRPD9MI Definitive Autosomal dominant [1]
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References

1 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. doi: 10.1038/ng0598-83.