News / Updates


Current number of diseases

21.05.2019 - 1383


Diseases added

21.05.2019 - SQSTM1 deficiency
21.05.2019 - AP4S1 deficiency
21.05.2019 - AP4B1 deficiency
21.05.2019 - AP4M1 deficiency
21.05.2019 - AP4E1deficiency
21.05.2019 - TBCK deficiency
21.05.2019 - ALS2 deficiency
21.05.2019 - DCTN1 deficiency
21.05.2019 - MTMR14 deficiency
21.05.2019 - CHMP2B deficiency
01.03.2019 - MICU2 deficiency
01.03.2019 - HSPE1 deficiency
01.03.2019 - Mitochondrial rRNA methyltransferase MRM2 deficiency (MRM2)
28.02.2019 - dUTP pyrophosphatase deficiency (DUT)
28.02.2019 - Glutaminase deficiency (GLS)
28.02.2019 - Galactose mutarotase deficiency (GALM)
22.02.2019 - PET117 deficiency
22.02.2019 - Cytochrome c oxidase subunit 5A deficiency (COX5A)
22.02.2019 - Cytochrome C oxidase subunit 4I1 deficiency (COX4I1)
22.02.2019 - ADH dehydrogenase a subcomplex assembly factor 7 deficiency (NDUFAF7)
22.02.2019 - NADH dehydrogenase ß subcomplex subunit 10 deficiency (NDUFB10)
22.02.2019 - Norepinephrine transporter deficiency (SLC6A2)
22.02.2019 - Cationic amino acid transporter 3 deficiency (SLC7A3)
22.02.2019 - N-acetylneuraminate pyruvate lyase deficiency (NPL)
22.02.2019 - Mitochondrial ribosomal small subunit 28 deficiency (MRPS28)
22.02.2019 - Aldehyde dehydrogenase 1B1 deficiency (ALDH1B1)
22.02.2019 - Mitochondrial oxodicarboxylate carrier deficiency (SLC25A21)
22.02.2019 - ß-xylosidase deficiency
22.02.2019 - Mitochondrial ribosomal small subunit 14 deficiency (MRPS14)
22.02.2019 - Mercaptopyruvate sulfurtransferase deficiency (MPST)
22.02.2019 - CHCHD10 deficiency
22.02.2019 - GUF1 deficiency
22.02.2019 - ERAL1 deficiency
22.02.2019 - Prolyl tRNA synthetase deficiency (PARS2)
22.02.2019 - UQCC2 deficiency
22.02.2019 - TIMMDC1 deficiency
22.02.2019 - ATP1A1 deficiency
22.02.2019 - Cytosolic phospholipase A2a deficiency (PLA2G4A)
22.02.2019 - SLC7A14 deficiency
22.02.2019 - SLC6A17 deficiency
22.02.2019 - Topoisomerase 3a deficiency (TOP3A)
27.01.2019 - Fatty acid amide hydrolase 2 deficiency (FAAH2)
27.01.2019 - Rabenosyn-5 deficiency (RBSN)
13.12.2018 - Ornithine decarboxylase 1 superactivity (ODC1)
13.12.2018 - Fucokinase deficiency (FUK)
13.12.2018 - Retinoic acid receptor ß deficiency (RARB)
13.12.2018 - Lanostherol synthase deficiency (LSS)
13.12.2018 - Lysophosphatidic acid receptor 6 deficiency (LPAR6)
13.12.2018 - Lipase H deficiency (LIPH)
10.12.2018 - Clathrin deficiency (CLTC)
10.12.2018 - Inositol polyphosphate 5-phosphatase K deficiency (INPP5K)
10.12.2018 - 9-cis-retinoic acid-metabolizing cytochrome deficiency (CYP26C1)
10.12.2018 - Cathepsin B superactivity (CTSB)
10.12.2018 - Hydroxysteroid sulfotransferase deficiency (SULT2B1)
10.12.2018 - Chloride channel 2 superactivity (CLCN2)
10.12.2018 - SLC10A7 deficiency
10.12.2018 - Cytochrome b561 deficiency (CYB561)
10.12.2018 - Sodium dicarboxylate cotransporter 3 deficiency (SLC13A3)
10.12.2018 - Plasma membrane citrate transporter (seipin) superactivity (BSCL2)
10.12.2018 - NADH dehydrogenase a subcomplex subunit 6 deficiency (NDUFA6)
10.12.2018 - Conserved oligomeric Golgi complex subunit 4 superactivity (COG4)
10.12.2018 - Lysophosphatidylinositol acyltransferase 1 deficiency (MBOAT7)
10.12.2018 - Arylsulfatase G deficiency (ARSG)
10.12.2018 - Glutamate pyruvate transaminase 2 deficiency (GPT2)
10.12.2018 - GOSR2-CDG
18.07.2018 - Progesterone receptor deficiency (PGR)
18.07.2018 - Congenital lipoprotein(a) deficiency (LPA)
18.07.2018 - SCARB1 deficiency (SCARB1)
18.07.2018 - Mineralocortoid receptor overactivity (NR3C2)
18.07.2018 - Mineralocorticoid receptor deficiency (NR3C2)
18.07.2018 - Spermidine/spermine N(1)-acetyltransferase overactivity (SAT1)
18.07.2018 - Inositol polyphosphate 5-phosphatase K deficiency (INPP5K)
18.07.2018 - Squalene synthase deficiency (FDFT1)
18.07.2018 - 5,10-methenyltetrahydrofolate synthetase deficiency (MTHFS)
18.07.2018 - DAPIT deficiency (ATP5MD)
18.07.2018 - Acylceramide transacylase deficiency (PNPLA1)
18.07.2018 - CLPX deficiency
16.06.2018 - PIGH-CDG
16.06.2018 - Chondroitin 4-sulfotransferase 1 deficiency (CHST11)
16.06.2018 - Acyl-CoA-binding domain-containing protein 5 deficiency (ACBD5)
16.06.2018 - Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency (SLC10A1)
16.06.2018 - Ethanolaminephosphotransferase 1 deficiency (SELENOI)
16.06.2018 - Mitochondrial processing peptidase ß deficiency (PMPCB)
16.06.2018 - Mitochondrial glutamyl-tRNA(Gln) amidotransferase subunit C deficiency (GATC)
08.06.2018 - Peptidyl-tRNA hydrolase 2 deficiency (PTRH2)
08.06.2018 - Mitochondrial and cytoplasmic lysyl-tRNA synthetase deficiency (KARS)
08.06.2018 - Mitochondrial tryptophanyl-tRNA synthetase deficiency (WARS2)
08.06.2018 - Mitochondrial tRNA(Val) deficiency (MT-TV)
05.06.2018 - Succinate dehydrogenase subunit D deficiency, tumoral phenotype (SDHD)
05.06.2018 - Succinate dehydrogenase subunit C deficiency, tumoral phenotype (SDHC)
05.06.2018 - NUBPL deficiency
05.06.2018 - NADH dehydrogenase ß subcomplex subunit 8 deficiency (NDUFB8)
05.06.2018 - Mitochondrial ATP-Mg/phosphate transporter deficiency (SLC25A24)
05.06.2018 - Mitochondrial citrate carrier deficiency (SLC25A1)
05.06.2018 - Cytosolic glycerol-3-phosphate dehydrogenase deficiency (GPD1)
05.06.2018 - Adenine nucleotide translocator deficiency (SLC25A4)
05.06.2018 - Mitochondrial malate dehydrogenase deficiency (MDH2)
24.05.2018 - KCNJ10 deficiency
24.05.2018 - Transketolase deficiency (TKT)
24.05.2018 - Sedoheptulose kinase deficiency (SHPK)
24.05.2018 - L-xylulose reductase deficiency (DCXR)
24.05.2018 - Neurogenic differentiation factor 1 deficiency (NEUROD1)
24.05.2018 - Krüppel-like factor 11 deficiency
24.05.2018 - PAX4 deficiency
24.05.2018 - RFX6 deficiency
24.05.2018 - AKT2 superactivity
24.05.2018 - APPL1 deficiency
24.05.2018 - BLK deficiency
21.05.2018 - Nicotinamide nucleotide transhydrogenase deficiency (NNT)
21.05.2018 - NAD(P)HX dehydratase deficiency (NAXD)
21.05.2018 - NAD(P)HX epimerase deficiency (NAXE)
21.05.2018 - Mitochondrial NAD kinase 2 deficiency (NADK2)
21.05.2018 - Nicotinamide mononucleotide adenylyl transferase 1 deficiency (NMNAT1)
21.05.2018 - Flavin adenine dinucleotide synthetase deficiency (FLAD1)
21.05.2018 - Riboflavin transporter 1 deficiency (SLC52A1)
21.05.2018 - Methylmalonic aciduria and homocystinuria, cblX type (HCFC1)
21.05.2018 - BOLA3 deficiency (BOLA3)
21.05.2018 - NFU1 deficiency (NFU1)
03.03.2018 - Mitochondrial complex V subunit deficiency (MTATP8)
03.03.2018 - Mitochondrial complex V subunit deficiency (MTATP6)
03.03.2018 - Mitochondrial complex V subunit deficiency (ATP5E)
03.03.2018 - Mitochondrial complex V subunit deficiency (ATP5A1)
03.03.2018 - Mitochondrial complex V assembly deficiency (ATPAF2)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO3)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO2)
03.03.2018 - Mitochondrial complex IV subunit deficiency (MTCO1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX8A)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX7B)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX6B1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX6A1)
03.03.2018 - Mitochondrial complex IV subunit deficiency (COX4I2)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SURF1)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SCO2)
03.03.2018 - Mitochondrial complex IV assembly deficiency (SCO1)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX20)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX15)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX14)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COX10)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA7)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA6)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA5)
03.03.2018 - Mitochondrial complex IV assembly deficiency (COA3)
03.03.2018 - Mitochondrial complex III subunit deficiency (UQCRQ)
03.03.2018 - Mitochondrial complex III subunit deficiency (UQCRB)
03.03.2018 - Mitochondrial complex III assembly deficiency (LYRM7)
03.03.2018 - Mitochondrial complex III assembly deficiency (UQCC3) 03.03.2018 - Mitochondrial complex III assembly deficiency (UQCC2)
03.03.2018 - Mitochondrial complex III assembly deficiency (TTC19)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND6)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND5)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND4L)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND4)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND3)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND2)
03.03.2018 - Mitochondrial complex I subunit deficiency (MTND1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB11)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB9)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFB3)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA13)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA12)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA11)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA10)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA9)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA4)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFA1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS8)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS7)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS6)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS4)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS3)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFS1)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFV2)
03.03.2018 - Mitochondrial complex I subunit deficiency (NDUFV1)
19.02.2018 - Mitochondrial complex I deficiency (TMEM126B)
19.02.2018 - Mitochondrial complex I deficiency (FOXRED1)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF6)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF5)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF4)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF3)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF2)
19.02.2018 - Mitochondrial complex I deficiency (NDUFAF1)
19.02.2018 - Farnesylpyrophosphate synthetase deficiency FDPS
19.02.2018 - Mevalonate pyrophosphate decarboxylase deficiency MVD
19.02.2018 - Phosphomevalonate kinase deficiency PMVK
18.02.2018 - Carnitine palmitoyl-transferase IC deficiency CPT1C
18.02.2018 - Primary systemic carnitine deficiency SLC22A5
18.02.2018 - Carnitine acetyltransferase deficiency CRAT
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


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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 (2019) 21, 102-106.

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