Details of Disease

General Information of Disease (ID: DIS92ANW)

Disease Name Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Synonyms
THMD5; encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency; thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Disease Hierarchy
DIS2OFSP: Thiamine-responsive dysfunction syndrome
DIS92ANW: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Disease Identifiers
MONDO ID
MONDO_0013761
UMLS CUI
C3280866
OMIM ID
614458
MedGen ID
482496
Orphanet ID
293955

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
TPK1 OTCHPUD0 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.