Details of Disease | DrugMAP

General Information of Disease (ID: DISTE7QO)

Disease Name	Neurodegeneration, infantile-onset, biotin-responsive
Synonyms	NERIB; Sodium-Dependent Multivitamin Transporter Deficiency; NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; Smvt Deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DISTE7QO: Neurodegeneration, infantile-onset, biotin-responsive
Disease Identifiers	MONDO ID MONDO_0033546 UMLS CUI C5436520 OMIM ID 618973 MedGen ID 1771692

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
SLC5A6	DTD5Y4G	Strong	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
SLC5A6	OT77CX29	Strong	Autosomal recessive	[1]
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References

1	Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 2017 Feb;136(2):253-261. doi: 10.1007/s00439-016-1751-x. Epub 2016 Nov 30.