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Inborn Errors of Metabolism Knowledgebase

Diagnosis

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Dyadic nomenclature

EMbase is integrating a dyadic nomenclature.

Diseases added

Total 2'038 disorders

26.12.2025 - ALMS1-related Alstrom syndrome
26.12.2025 - RTEL1-related Dyskeratosis congenita (ad, ar)
26.12.2025 - TERC-related Dyskeratosis congenita (ad)
26.12.2025 - TERT-related Dyskeratosis congenita (ad, ar)
20.12.2025 - SPNS1-related Sphingolipid transporter 1 deficiency
18.12.2025 - DOK7-related Myasthenic syndrome, 10
18.12.2025 - DOK7-related Fetal akinesia deformation sequence 3
18.12.2025 - MUSK-related Myasthenic syndrome, 9, associated with acetylcholine receptor deficiency
18.12.2025 - MUSK-related Fetal akinesia deformation sequence 1
18.12.2025 - LRP4-related Myasthenic syndrome, 17
18.12.2025 - NOTCH2-related Hajdu-Cheney syndrome
18.12.2025 - NOTCH2-related Alagille syndrome 2
22.11.2025 - SLC18A3-related Myasthenic syndrome 21, presynaptic
22.11.2025 - RAPSN-related Myasthenic syndrome 11, associated with acetylcholine receptor deficiency
22.11.2025 - CHRNG-related Multiple pterygium syndrome, Escobar variant
22.11.2025 - CHRNG-related Multiple pterygium syndrome, lethal type
22.11.2025 - CHRNE-related Myasthenic syndrome 4C, associated with acetylcholine receptor deficiency
22.11.2025 - CHRNE-related Myasthenic syndrome 4B, fast-channel
22.11.2025 - CHRND-related Multiple pterygium syndrome, lethal type
22.11.2025 - CHRND-related Myasthenic syndrome 3A, slow-channel
22.11.2025 - CHRND-related Myasthenic syndrome, congenital 3B, fast-channel
22.11.2025 - CHRNB2-related Epilepsy, nocturnal frontal lobe 3
22.11.2025 - CHRNB1-related Myasthenic syndrome 2A, slow-channel
22.11.2025 - CHRNA4-related Epilepsy, nocturnal frontal lobe 1
22.11.2025 - CHRNA3-related Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
22.11.2025 - CHRNA2-related Epilepsy, nocturnal frontal lobe 4
22.11.2025 - CHRNA1-related Multiple pterygium syndrome, lethal type
22.11.2025 - CHRNA1-related Myasthenic syndrome 1B, fast-channel
22.11.2025 - CHRNA1-related Myasthenic syndrome 1A, slow-channel
12.11.2025 - MTERF3-related Developmental delay, intermittent hypoglycemia and metabolic acidosis
12.11.2025 - ATG12-related Neurodevelopmental disorder
12.11.2025 - NMNAT3-related Nicotinamide mononucleotide adenylyl transferase 3 deficiency
03.10.2025 - SNAPIN-related Prenatal-onset neurodevelopmental disorder
05.08.2025 - GLYAT-related Glycine N-acyltransferase deficiency
04.07.2025 - FASTKD5-related Leigh syndrome
30.05.2025 - PFAS-related Phosphoribosylformylglycinamidine synthase deficiency
23.04.2025 - UGGT1-related UDP-glucose:glycoprotein glucosyltransferase 1 deficiency
14.04.2025 - CLCN7-related Osteopetrosis, recessive
14.04.2025 - CLCN7-related Osteopetrosis, dominant
28.03.2025 - FLVCR2-related Proliferative vasculopathy and hydranencephaly-hydrocephaly
28.03.2025 - FLVCR1-related Severe developmental disorder spectrum
22.03.2025 - IDH3G-related Mitochondrial NAD-depend isocitrate dehydrogenase 3 gamma deficiency
10.01.2025 - CLCN7-related Chloride channel 7 superactivity

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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.