Details of Disease | DrugMAP

General Information of Disease (ID: DISM391Q)

Disease Name	Progressive demyelinating neuropathy with bilateral striatal necrosis
Synonyms	bilateral striatal Degeneration and progressive polyneuropathy; progressive polyneuropathy with bilateral striatal necrosis; thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type); THMD4; striatal Necrosis, bilateral, and progressive polyneuropathy; thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
Definition	Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS2OFSP: Thiamine-responsive dysfunction syndrome DISM391Q: Progressive demyelinating neuropathy with bilateral striatal necrosis
Disease Identifiers	MONDO ID MONDO_0013382 UMLS CUI C3150973 OMIM ID 613710 MedGen ID 462323 Orphanet ID 217396 SNOMED CT ID 771305006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A19	DTT82QK	Limited	Genetic Variation	[1]
SLC25A19	DTT82QK	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A19	OT157TY3	Strong	Autosomal recessive	[2]
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References

1	Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.J Hum Genet. 2019 Nov;64(11):1075-1081. doi: 10.1038/s10038-019-0666-5. Epub 2019 Sep 11.
2	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.