News / Updates


Current number of diseases

24.11.2020 - 1685


Diseases added

24.11.2020 - Choline transporter deficiency (SLC5A7)
24.11.2020 - Ionotropic glutamate receptor delta type subunit 2 deficiency (GRID2)
24.11.2020 - Ionotropic glutamate receptor AMPA type subunit 2 deficiency (GRIA2)
24.11.2020 - Combined monoamine oxidase A and B deficiency (MAOA;MAOB)
24.11.2020 - Endosomal ferrireductase deficiency (STEAP3)
24.11.2020 - BMP6 deficiency
24.11.2020 - Deficiency of copper chaperone for superoxide dismutase (CCS)
24.11.2020 - MEDNIK-like syndrome (AP1B1)
24.11.2020 - Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency (ALDH1L2)
24.11.2020 - Site-1 protease deficiency (MBTPS1)
24.11.2020 - RAB3GAP2 deficiency
24.11.2020 - RAB3GAP1 deficiency
24.11.2020 - RAB18 deficiency
24.11.2020 - Carpenter syndrome (RAB23)
24.11.2020 - Dymeclin deficiency (DYM)
24.11.2020 - Combined factor V and factor VIII deficiency type 2 (MCFD2)
24.11.2020 - Combined factor V and factor VIII deficiency type 1 (LMAN1)
24.11.2020 - Grey platelet syndrome (NBEAL2)
24.11.2020 - Rubicon deficiency (RUBCN)
24.11.2020 - p34 deficiency (AAGAB)
24.11.2020 - AP4S1 deficiency
24.11.2020 - AP4M1 deficiency
24.11.2020 - AP4E1 deficiency
19.11.2020 - PRUNE1 deficiency
18.11.2020 - VPS13D deficiency
18.11.2020 - VPS13C deficiency
18.11.2020 - VAPB deficiency
18.11.2020 - Choreoacanthocytosis (VPS13A)
18.11.2020 - BAP31 deficiency
18.11.2020 - EMC1 deficiency
18.11.2020 - Griscelli syndrome type 3 (MLPH)
18.11.2020 - Griscelli syndrome type 2 (AB27A)
18.11.2020 - Griscelli syndrome type 1 (MYO5A)
18.11.2020 - Chediak-Higashi syndrome (LYST)
18.11.2020 - Hermansky-Pudlak syndrome type 10 (AP3D1)
18.11.2020 - Hermansky-Pudlak syndrome type 9 (BLOC1S6)
18.11.2020 - Hermansky-Pudlak syndrome type 8 (BLOC1S3)
18.11.2020 - Hermansky-Pudlak syndrome type 7 (DTNBP1)
18.11.2020 - Hermansky-Pudlak syndrome type 6 (HPS6)
18.11.2020 - Hermansky-Pudlak syndrome type 5 (HPS5)
18.11.2020 - Hermansky-Pudlak syndrome type 4 (HPS4)
18.11.2020 - Hermansky-Pudlak syndrome type 3 (HPS3)
18.11.2020 - Hermansky-Pudlak syndrome type 2 (AP3B1)
18.11.2020 - Hermansky-Pudlak syndrome type 1 (HPS1)
18.11.2020 - Hypomyelinating leukodystrophy type 12 (VPS11)
18.11.2020 - Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (VPS33B)
18.11.2020 - Famillial hemophagocytic lymphohistiocytosis type 3 (UNC13D)
18.11.2020 - SCYL1-binding protein deficiency (GORAB)
18.11.2020 - SCYL2 deficiency
18.11.2020 - SCYL1 deficiency
18.11.2020 - NBAS deficiency
18.11.2020 - VIPAS39 deficiency
18.11.2020 - VPS45 deficiency
18.11.2020 - TRAPPC12 deficiency
18.11.2020 - TRAPPC9 deficiency
18.11.2020 - TRAPPC6B deficiency
14.11.2020 - TRAPPC4 deficiency
14.11.2020 - TRAPPC2L deficiency
14.11.2020 - Spondyloepiphyseal dysplasia tarda (TRAPPC2)
14.11.2020 - Craniolenticulosutural dysplasia (SEC23A)
14.11.2020 - Archain 1 deficiency (ARCN1)
14.11.2020 - COPB2 deficiency
14.11.2020 - COPA deficiency
14.11.2020 - SPATA5 deficiency
14.11.2020 - Spartin deficiency (SPG20)
14.11.2020 - MSTO1 deficiency (MIEF2)
14.11.2020 - CHCHD2 deficiency
14.11.2020 - MICOS complex subunit MIC26 deficiency (APOO)
14.11.2020 - MICOS complex subunit MIC13 deficiency (MICOS13)
14.11.2020 - GNPNAT1-CDG
14.11.2020 - GALNT14-CDG
14.11.2020 - Shwachman-Diamond syndrome, EIF6 type
14.11.2020 - Shwachman-Diamond syndrome, DNAJC21 type
14.11.2020 - Shwachman-Diamond syndrome type 2 (EFL1)
14.11.2020 - Shwachman-Diamond syndrome type 1 (SBDS)
14.11.2020 - Poly(A)-specific ribonuclease deficiency (PARN)
14.11.2020 - Cytosolic ribosomal SA deficiency (RPSA)
14.11.2020 - Cytosolic small ribosomal subunit 23 deficiency (RPS23)
14.11.2020 - Cytosolic small ribosomal subunit 20 deficiency (RPS20)
14.11.2020 - Cytosolic large ribosomal subunit 21 deficiency (RPL21)
14.11.2020 - Cytosolic large ribosomal subunit 13 deficiency (RPL13)
14.11.2020 - Cytosolic large ribosomal subunit 10 deficiency (RPL10)
14.11.2020 - Diamond-Blackfan anemia type 20 (RPS15A)
14.11.2020 - Diamond-Blackfan anemia type 19 (RPL35)
14.11.2020 - Diamond-Blackfan anemia type 18 (RPL18)
14.11.2020 - Diamond-Blackfan anemia type 17 (RPS27)
14.11.2020 - Diamond-Blackfan anemia type 16 (RPL27)
14.11.2020 - Diamond-Blackfan anemia type 15 (RPS28)
14.11.2020 - Diamond-Blackfan anemia type 14 (TSR2)
14.11.2020 - Diamond-Blackfan anemia type 13 (RPS29)
14.11.2020 - Diamond-Blackfan anemia type 12 (RPL15)
14.11.2020 - Diamond-Blackfan anemia type 11 (RPL26)
14.11.2020 - Diamond-Blackfan anemia type 10 (RPS26)
14.11.2020 - Diamond-Blackfan anemia type 9 (RPS10)
14.11.2020 - Diamond-Blackfan anemia type 8 (RPS7)
14.11.2020 - Diamond-Blackfan anemia type 7 (RPL11)
14.11.2020 - Diamond-Blackfan anemia type 6 (RPL5)
14.11.2020 - Diamond-Blackfan anemia type 5 (RPL35A)
14.11.2020 - Diamond-Blackfan anemia type 4 (RPS17)
14.11.2020 - Diamond-Blackfan anemia type 3 (RPS24)
14.11.2020 - Diamond-Blackfan anemia type 1 (RPS19)
14.11.2020 - Nucleophosmin 1 deficiency (NPM1)
14.11.2020 - BMS1-related aplasia cutis congenita
05.11.2020 - Bowen-Conradi syndrome (EMG1)
05.11.2020 - NEPRO-related skeletal dysplasia
05.11.2020 - POP1 deficiency
05.11.2020 - Leukoencephalopathy with brain calcifications and cysts (SNORD118)
05.11.2020 - Autosomal recessive dyskeratosis congenita type 2 (NOLA2)
05.11.2020 - Autosomal recessive dyskeratosis congenita type 1 (NOLA3)
05.11.2020 - Dyskeratosis congenita, X-linked (DKC1)
05.11.2020 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (UBTF)
02.11.2020 - POLR3H-related primary ovarian insufficiency (POLR3H)
02.11.2020 - Wiedemann-Rautenstrauch syndrome (POLR3A)
02.11.2020 - POLR3-related leukodystrophy (POLR1C)
02.11.2020 - Acrofacial dysostosis, Cincinnati type (POLR1A)
02.11.2020 - Treacher Collins syndrome type 4 (POLR1B)
02.11.2020 - Treacher Collins syndrome type 3 (POLR1C)
02.11.2020 - Treacher Collins syndrome type 2 (POLR1D)
02.11.2020 - Treacher Collins syndrome type 1 (TCOF1)
02.11.2020 - AIMP2/p38 deficiency
02.11.2020 - AIMP1/p43 deficiency
02.11.2020 - Valyl-tRNA synthetase 1 deficiency (VARS1)
02.11.2020 - Tyrosyl-tRNA synthetase 1 deficiency (YARS1)
02.11.2020 - Tryptophanyl-tRNA synthetase 1 deficiency (WARS1)
02.11.2020 - Threonyl-tRNA synthetase 1 deficiency (TARS1)
02.11.2020 - Seryl-tRNA synthetase 1 deficiency (SARS1)
02.11.2020 - Phenylalanyl-tRNA synthetase subunit beta deficiency (FARSB)
02.11.2020 - Phenylalanyl-tRNA synthetase subunit alpha deficiency (FARSA)
02.11.2020 - Methionyl-tRNA synthetase 1 deficiency (MARS1)
02.11.2020 - Lysyl-tRNA synthetase 1 deficiency (KARS1)
02.11.2020 - Leucyl-tRNA synthetase 1 deficiency (LARS1)
02.11.2020 - Isoleucyl-tRNA synthetase 1 deficiency (IARS1)
02.11.2020 - Histidyl-tRNA synthetase 1 deficiency (HARS1)
02.11.2020 - Glutamyl-prolyl-tRNA synthetase 1 deficiency (EPRS1)
02.11.2020 - Glutaminyl-tRNA synthetase 1 deficiency (QARS1)
02.11.2020 - Cysteinyl-tRNA synthetase 1 deficiency (CARS1)
02.11.2020 - Aspartyl-tRNA synthetase 1 deficiency (DARS1)
01.11.2020 - Asparaginyl-tRNA synthetase 1 deficiency (NARS1)
01.11.2020 - Arginyl-tRNA synthetase 1 deficiency (RARS1)
01.11.2020 - Alanyl-tRNA synthetase 1 deficiency (AARS1)
01.11.2020 - Galloway-Mowat syndrome type 6 (WDR4)
01.11.2020 - Pseudouridine synthase 3 deficiency (PUS3)
01.11.2020 - Galloway-Mowat syndrome type 5 (TPRKB)
01.11.2020 - Galloway-Mowat syndrome type 4 (TP53RK)
01.11.2020 - Galloway-Mowat syndrome type 3 (OSGEP)
01.11.2020 - Galloway-Mowat syndrome type 2 (LAGE3)
01.11.2020 - Galloway-Mowat syndrome, GON7 type
01.11.2020 - Galloway-Mowat syndrome, YRDC type
01.11.2020 - Elongator complex protein 2 deficiency (ELP2)
01.11.2020 - Elongator complex protein 1 deficiency (ELP1)
01.11.2020 - tRNA-specific adenosine deaminase 3 deficiency (ADAT3)
01.11.2020 - NSUN2 deficiency
01.11.2020 - FTSJ RNA 2’-O-methyltransferase 1 deficiency (FTSJ1)
01.11.2020 - DALRD3 deficiency
31.10.2020 - tRNA methyltransferase 1 deficiency (TRMT1)
31.10.2020 - CLP1 deficiency
31.10.2020 - tRNA splicing endonuclease subunit 54 deficiency (TSEN54)
31.10.2020 - tRNA splicing endonuclease subunit 34 deficiency (TSEN34)
31.10.2020 - tRNA splicing endonuclease subunit 15 deficiency (TSEN15)
31.10.2020 - tRNA splicing endonuclease subunit 2 deficiency (TSEN2)
31.10.2020 - Ectonucleoside triphosphate diphosphohydrolase 1 deficiency (ENTPD1)
31.10.2020 - RNA-specific adenosine deaminase 2 deficiency ( ADARB1)
31.10.2020 - NUDT15 deficiency
31.10.2020 - Adenylosuccinate synthase-like 1 deficiency (ADSS1)
31.10.2020 - FAMIN deficiency (LACC1)
31.10.2020 - Adenosine deaminase superactivity (ADA)
31.10.2020 - Phosphoribosylaminoimidazole carboxylase deficiency (PAICS)
31.10.2020 - CTP synthase 1 deficiency (CTPS1)
31.10.2020 - Deoxythymidylate kinase deficiency (DTYMK)
31.10.2020 - Very low-density lipoprotein receptor deficiency (VLDLR)
31.10.2020 - ABCA12 lipid transporter deficiency (ABCA12)
31.10.2020 - Alkylglycerol monooxygenase deficiency (AGMO)
31.10.2020 - Phosphatidylinositol 4-kinase type 3 alpha deficiency (PI4KA)
28.10.2020 - Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency (PIK3C2A)
28.10.2020 - Perilipin 5 deficiency (PLIN5)
28.10.2020 - DIABLO deficiency
28.10.2020 - TIMM22 deficiency
28.10.2020 - Mitochondrial serine hydroxymethyltransferase deficiency (SHMT2)
25.05.2020 - Phosphatidylinositol 4-kinase type 2-alpha deficiency (PI4K2A)
17.03.2020 - Tenascin-R deficiency (TNR)
15.02.2020 - Sphingolipid-1-delta (4)-desaturase deficiency (DEGS1)
15.02.2020 - CTP-phosphoethanolamine cytidylyltransferase 2 deficiency (PCYT2)
31.01.2020 - Dynamin 2 deficiency (DNM2)
31.01.2020 - Kabuki syndrome (KMT2D)
31.01.2020 - UDP-galactose nucleotidase deficiency (CANT1)
31.01.2020 - Cathepsin C deficiency (CTSC)
15.01.2020 - ATP-binding cassette transporter superfamily A12 (ABCA12)
15.01.2020 - Short-chain dehydrogenase/reductase 9C deficiency (SDR9C7)
15.01.2020 - Arachidonate lipoxygenase 3 deficiency (ALOXE3)
15.01.2020 - Arachinodate 12R-lipoxygenase deficiency (ALOX12B)
15.01.2020 - 3-Ketodihydrosphingosine reductase deficiency (KDSR)
15.01.2020 - Catel-Manzke syndrome (TGDS)
15.01.2020 - Plasma retinol-binding protein deficiency (RBP4)
15.01.2020 - Mitochondrial Depletion Syndrome 4B (POLG)
06.10.2019 - Ondine syndrome (PHOX2B)
06.10.2019 - FOXA2 deficiency
06.10.2019 - Simpson-Golabi-Behmel syndrome (GPC3)
06.10.2019 - Perlmann syndrome (DIS3L2)
06.10.2019 - Costello syndrome (HRAS)
06.10.2019 - MSSGM1 deficiency (TRMT10A)
06.10.2019 - PASNA syndrome (CACNA1D)
06.10.2019 - Timothy syndrome (CACNA1C)
06.10.2019 - Sotos syndrome (NSD1;NFIX)
06.10.2019 - AKT3 superactivity
06.10.2019 - Turner syndrome
06.10.2019 - Kabuki syndrome (KMT2D; KDM6A)
06.10.2019 - Beckwith Wiedemann syndrome (IGF2;H19;CDKN1C;KCNQ1)
06.10.2019 - L-Arabinosuria
06.10.2019 - Lysine malabsorption syndrome
06.10.2019 - ABCC6 deficiency
06.10.2019 - DDX58 superactivity
06.10.2019 - MDA5 superactivity (IFIH1)
06.10.2019 - RNA-specific adenosine deaminase deficiency (ADAR)
06.10.2019 - SAMHD1 deficiency
06.10.2019 - Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
06.10.2019 - Mitochondrial methionyl-tRNA methyltransferase deficiency (NSUN3)
06.10.2019 - Mitochondrial malate dehydrogenase deficiency, tumoral phenotype (MDH2)
06.10.2019 - Methylthioadenosine phosphorylase deficiency (MTAP)
20.09.2019 - Sulfide:quinone oxidoreductase deficiency (SQOR)
20.09.2019 - Methylthioadenosine phosphorylase deficiency (MTAP)
20.09.2019 - Mitochondrial methionyl-tRNA methyltransferase deficiency (NSUN3)
20.09.2019 - Mitochondrial malate dehydrogenase deficiency, tumoral phenotype (MDH2)
06.07.2019 - Dihydrolipoamide succinyltransferase deficiency (DLST)
06.07.2019 - D-lactate dehydrogenase deficiency (LDHD)
06.07.2019 - Nucleoside transporter-1 deficiency (SLC28A1)
06.07.2019 - Isocitrate dehydrogenase 1 deficiency (IDH1)
06.07.2019 - SLC25A11 deficiency
06.07.2019 - PIGB deficiency
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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