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Inborn Errors of Metabolism Knowledgebase

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The IEMbase is celebrating it's 10th anniversary!

Number of disorders (30.09.2024): 1,956

Diseases added

20.09.2024 - Capicua deficiency (CIC)
25.08.2024 - Short stature, microcephaly, and endocrine dysfunction (XRCC4)
25.08.2024 - Wolfram syndrome 1 (WFS1)
25.08.2024 - CAKUT and VACTERL association (TRAP1)
25.08.2024 - Garg-Mishra progeroid syndrome (TOMM7)
25.08.2024 - Combined oxidative phosphorylation deficiency 58 (TEFM)
25.08.2024 - Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline (SLC44A1)
25.08.2024 - Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
25.08.2024 - Moyamoya disease 2 (RNF213)
25.08.2024 - Encephalopathy, acute, infection-induced, 3 (RANBP2)
25.08.2024 - Severe Infantile Metabolic Disorder Affecting Mitochondrial Function Leight-like (PYROXD2)
25.08.2024 - Corneal dystrophy, punctiform and polychromatic pre-Descemet (PRDX3)
25.08.2024 - Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (P4HTM)
25.08.2024 - Premature ovarian insufficiency (MRPL50)
25.08.2024 - Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (MORC2)
25.08.2024 - Optic atrophy 14 (MIEF1)
25.08.2024 - Mitochondrial DNA depletion syndrome 20 (MNGIE type) (LIG3)
25.08.2024 - Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
25.08.2024 - Huntington disease (HTT)
25.08.2024 - Anemia, sideroblastic, 5 (HSCB)
25.08.2024 - Late-onset progressive external ophthalmoplegia (GMPR)
25.08.2024 - Developmental and epileptic encephalopathy 47 (FGF12)
25.08.2024 - Bone marrow failure syndrome 2 (ERCC6L2)
25.08.2024 - Myotonic dystrophy 1 (DMPK)
25.08.2024 - Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
25.08.2024 - Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
25.08.2024 - Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (CTBP1)
25.08.2024 - Wolfram syndrome 2 (CISD2)
25.08.2024 - Neurodegeneration with brain iron accumulation 4 (C19orf12)
25.08.2024 - Dystonia, early-onset, and/or spastic paraplegia (ATP5MC3)
31.07.2024 - Epithelial sodium channel 1 gamma subunit deficiency (SCNN1G)
31.07.2024 - Epithelial sodium channel 1 alpha subunit deficiency (SCNN1A)
31.07.2024 - Phosphopantothenoylcysteine decarboxylase deficiency (PPCDC)
31.07.2024 - Golgin A2 deficiency (GOLGA2)
31.07.2024 - RNU7-1 deficiency
31.07.2024 - LSM11 deficiency
31.07.2024 - Perilipin 4 deficiency (PLIN4)
31.07.2024 - Long-chain fatty acid-CoA ligase 5 deficiency (ACSL5)
31.07.2024 - Mitochondrial ribosomal large subunit 39 deficiency (MRPL39)
31.07.2024 - Onoctamin 6 deficiency (ANO6)
31.07.2024 - ATP112C flippase deficiency
30.07.2024 - Lipolysis-stimulated lipoprotein receptor deficiency (LSR)
30.07.2024 - Onoctamin 6 deficiency (ANO6)
30.07.2024 - ATP112C flippase deficiency
03.05.2024 - DAGLA deficiency
26.04.2024 - RAB33B deficiency
26.04.2024 - RRM1 deficiency

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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.

Reference

Ferreira C. R., van Karnebeek C. D. M., Vockley J., Blau N., A proposed nosology of inborn errors of metabolism. Genet Med (2018) DOI: 10.1038/s41436-018-0022-8.