biotin-responsive basal ganglia disease

Summary
Definition
A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
Super Class
basal ganglia disease
Disease Ontology
DOID:0050659
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
80704 SLC19A3 solute carrier family 19 member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
80721 Slc19a3 solute carrier family 19, member 3
116914 Slc19a2 solute carrier family 19 (thiamine transporter), member 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
29723 Slc19a1 solute carrier family 19 member 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
178745 folt-2 Folate-like transporter 2
179544 folt-1 Folate transporter 1
4363081 folt-3 Folate-like transporter 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024