Mitochondrial disease
Gene: SLC19A3
SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Presentation can be Leigh-syndrome like.
More than 20 affected individuals reported.Created: 11 May 2022, 8:32 a.m. | Last Modified: 11 May 2022, 8:32 a.m.
Panel Version: 0.14112
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC19A3 was added gene: SLC19A3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC19A3 was set to Unknown