News / Updates

Current number of diseases

13/11/2017 - 610

Diseases added

13/11/2017 - Epsilon-N-trimethyllysine hydroxylase deficiency TMLHE
13/11/2017 - Trehalase deficiency TREH
02/11/2017 - Mitochondrial complex III deficiency, nuclear type 5 UQCRC2
26/10/2017 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1
26/10/2017 - Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK
26/10/2017 - Maple sirup urine disease, mild variant PPM1K
23/10/2017 - Progressive familial intrahepatic cholestasis 5 NR1H4
23/10/2017 - Crigler-Najjar syndrome UGT1A1
23/10/2017 - Congenital bile acid synthesis defect ACOX2
23/10/2017 - Congenital bile acid synthesis defect ABCD3
23/10/2017 - Alpha-tocopherol transfer protein deficiency TTPA
22/10/2017 - Sjogren-Larsson syndrome ALDH3A2
02/10/2017 - Carbonic anhydrase VA deficiency CA5A
02/10/2017 - 2-Ketoadipic aciduria DHTKD1
02/10/2017 - Triosephosphate isomerase deficiency TPI1
02/10/2017 - Ronin deficiency THAP11
04/09/2017 - NAD deficiency and congenital malformations due to HYNU variants
04/09/2017 - NAD deficiency and congenital malformations due to HAAO variants
03/09/2017 - Mitochondrial epileptic encephalopathy TIMM50
03/09/2017 - COASY protein-associated neurodegeneration CoPAN


Inborn errors of metabolism

Inborn errors of metabolism (IEMs) represent a large class of rare genetic disorders.

For a considerable proportion of IEM, therapy is available, which dramatically improves patient outcomes. Accurate and timely diagnosis is therefore essential. However, the accuracy and timeliness of an IEM diagnosis is often difficult to achieve due to a staggering number of these rare genetic disorders, the heterogeneity of symptoms and phenotypes, as well as the extensive list of required tests and skills to properly interpret these in the context of the patient’s phenotype. By combining comprehensive expert resources on IEMs and existing ontologies - hierarchies of concepts organized as a standardized vocabulary (e.g. Human Phenotype Ontology) – we created an extensive system that aims to provide both an online knowledgebase and a smart system (artificial intelligence) for curation and diagnosis support.

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