Details of Disease

General Information of Disease (ID: DISSKL8K)

Disease Name Thyroid hormone metabolism, abnormal 1
Synonyms thyroid hormone metabolism, abnormal; short stature-delayed bone age due to thyroid hormone metabolism deficiency; THMA1
Definition
A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Disease Hierarchy
DISQNKB3: Peripheral hypothyroidism
DISKXWH5: Thyroid hormone metabolism, abnormal
DISSKL8K: Thyroid hormone metabolism, abnormal 1
Disease Identifiers
MONDO ID
MONDO_0800046
UMLS CUI
C5676891
OMIM ID
609698
MedGen ID
1801974
Orphanet ID
171706

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
SECISBP2 OTBXUURJ Strong Autosomal recessive [1]
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References

1 Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov;37(11):1247-52. doi: 10.1038/ng1654. Epub 2005 Oct 16.