Details of Disease | DrugMAP

General Information of Disease (ID: DISMDM8N)

Disease Name	Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Synonyms	infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Disease Hierarchy	DIS69LXB: Disorder of thiamine metabolism and transport DISMDM8N: Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Disease Identifiers	MONDO ID MONDO_0016981 UMLS CUI C5190692 MedGen ID 1675231 Orphanet ID 263410 SNOMED CT ID 782886007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC19A3	DT39CEA	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC19A3	OTOWP1CT	Supportive	Autosomal recessive	[1]
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References

1	A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet. 2010 Dec 22;11:171. doi: 10.1186/1471-2350-11-171.