Disease #02664 (THMD2 (thiamine metabolism dysfunction syndrome, type 2 (THMD-2, basal ganglia disease, biotin-responsive)), OMIM:607483)

Official abbreviation THMD2
Name thiamine metabolism dysfunction syndrome, type 2 (THMD-2, basal ganglia disease, biotin-responsive)
OMIM ID 607483
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene SLC19A3
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00080954 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - THMD2 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (OMIM:607483) SLC19A3 SLC19A3 1 1 Daniel Trujillano
00464355 - - - - - - - - - - - THMD2 - SLC19A3 SLC19A3 1 1 Min Peng
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.