News / Updates


Current number of diseases

13.10.2022 - 1872


Diseases added

13.10.2022 - Mitochondrial ATP synthase beta-subunit deficiency ATP5F1B
13.10.2022 - COX11 deficiency
08.09.2022 - Phospholipid flippase ATP11A deficiency
07.09.2022 - Choline kinase, alpha deficiency (CHKA)
07.09.2022 - LETM1 deficiency
07.09.2022 - Thymidylate synthase deficiency (TYMS)
07.09.2022 - ALG5-CDG
07.09.2022 - Neurodevelopmental disorder with hypotonia and contractures due to C18orf32 loss-of-function
07.09.2022 - High-affinity copper transporter (CTR1) deficiency
07.09.2022 - Nucleoporin 62 deficiency (NUP62)
07.09.2022 - Skeletal anomalies and mental retardation syndrome (RAF5IF)
07.09.2022 - Mitochondrial cytidine diphosphate-diacylglycerol synthase deficiency (TAMM41)
07.09.2022 - Neurodevelopmental disorder involving postnatal microcephaly and failure to thrive (ATP9A)
07.09.2022 - Neurodevelopmental disorder with dystonia and seizures (SHQ1)
28.06.2022 - Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (NR4A2)
28.06.2022 - Developmental and epileptic encephalopathy 102 (SLC38A3)
28.06.2022 - Leukodystrophy, childhood-onset, remitting (FBP2)
28.06.2022 - Intellectual developmental disorder, X-linked, syndromic, Pilorge type (GLRA2)
28.06.2022 - Spermatogenic failure 70 (PDHA2)
28.06.2022 - Immunodeficiency 97 with autoinflammation (PIK3CG)
28.06.2022 - Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (CTU2)
17.03.2022 - GET3-CDG
17.03.2022 - GET4-CDG
17.03.2022 - CAMLG-CDG
17.03.2022 - THUMPD1 deficiency
17.03.2022 - MAN2C1 deficiency
17.03.2022 - Phospholipase C, ETA-1 deficiency (PLCH1)
17.03.2022 - Cardiolipin synthase 1 deficiency (CRLS1)
17.03.2022 - SLC26A6 deficiency
18.01.2022 - Low temperature viability protein 1 deficiency (LTV1)
18.01.2022 - Phosphatidylserine lipase deficiency ABHD16A
08.01.2022 - Arylsulfatase K deficiency (ARSK)
08.01.2022 - OGDHL deficiency
08.01.2022 - IMP dehydrogenase 2 deficiency (IMPDH2)
08.01.2022 - Mitochondrial encephalomyopathy with complex I and IV deficiency (SLIRP)
08.01.2022 - Nephrotic syndrome, type 11 (NUP107)
08.01.2022 - Nephrotic syndrome, type 18 (NUP133)
08.01.2022 - Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (GRIK2)
08.01.2022 - Intellectual developmental disorder (GRIK2)
08.01.2022 - Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (VPS50)
08.01.2022 - Usmani-Riazuddin syndrome (AP1G1)
23.12.2021 - Monocarboxylate transporter 8 deficiency (SLC16A2)
23.12.2021 - King-Denborough syndrome (RYR1)
23.12.2021 - Minicore myopathy with external ophthalmoplegia (RYR1)
22.10.2021 - EDEM3-CDG
16.09.2021 - ATP13A3 deficiency
08.09.2021 - SLC51B deficiency
08.09.2021 - SLC51A deficiency
08.09.2021 - PLCH1 deficiency
08.09.2021 - RBM28 deficiency
08.09.2021 - RBM28 deficiency
08.09.2021 - ATG7 deficiency
08.09.2021 - ATP9A deficiency
08.09.2021 - RINT1-CDG
08.09.2021 - STX5-CDG
08.09.2021 - PIGF-CDG
08.09.2021 - RPL3L deficiency
08.09.2021 - CREB3L3 deficiency
08.09.2021 - SLC37A4-CDG
06.09.2021 - ZFYVE19 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.

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