MCID: INH020
MIFTS: 46

Inherited Metabolic Disorder

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Inherited Metabolic Disorder

MalaCards integrated aliases for Inherited Metabolic Disorder:

Name: Inherited Metabolic Disorder 12 15
Inborn Errors of Metabolism 12 15 71
Metabolic Hereditary Disorder 12
Inborn Metabolism Disorder 12
Inborn Error of Metabolism 74
Inborn Metabolic Disorder 74
Metabolism, Inborn Errors 43

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 43 D008661
NCIt 49 C34816
SNOMED-CT 67 86095007
UMLS 71 C0025521

Summaries for Inherited Metabolic Disorder

Disease Ontology : 12 A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

MalaCards based summary : Inherited Metabolic Disorder, also known as inborn errors of metabolism, is related to lysosomal storage disease and lipid storage disease. An important gene associated with Inherited Metabolic Disorder is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways are Folate Metabolism and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. The drugs Zinc and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

Wikipedia : 74 Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of... more...

Related Diseases for Inherited Metabolic Disorder

Diseases in the Acquired Metabolic Disease family:

Inherited Metabolic Disorder Metabolic Disease Due to Other Fatty Acid Oxidation Disorder

Diseases related to Inherited Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 851)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 33.3 MIR33B MIR199A1 INS H2AC18 GPT GLA
2 lipid storage disease 33.3 SERPINA3 MIR33B MIR199A1 INS H2AC18 GPT
3 amino acid metabolic disorder 32.7 SERPINA3 PRODH NAGS H2AC18 BLOC1S1
4 lipid metabolism disorder 32.6 MIR33A MIR126 INS H2AC18 CRP COG2
5 plasma protein metabolism disease 32.6 SERPINA3 CRP CCR6
6 carbohydrate metabolic disorder 32.6 PRODH INS H2AC18
7 metal metabolism disorder 32.6 INS HFE GPT
8 sphingolipidosis 31.7 SERPINA3 H2AC18 GLA BLOC1S1
9 peripheral nervous system disease 31.3 SERPINA3 PRODH MIR21 MIR126 INS H2AC18
10 autosomal recessive disease 31.3 SERPINA3 PRODH H2AC18 CCR6 BLOC1S1
11 vascular disease 31.3 MIR21 MIR199A1 MIR126 INS GLA CRP
12 end stage renal failure 31.3 CRP COG2 APOB ADIPOQ
13 hypercholesterolemia, familial, 1 31.3 INS GPT CRP COG2 APOB
14 abdominal obesity-metabolic syndrome 1 31.2 MIR33A INS APOB ADIPOQ
15 demyelinating disease 31.2 SERPINA3 PRODH MIR126 H2AC18 CCR6
16 fatty liver disease, nonalcoholic 1 31.1 INS GPT ADIPOQ
17 nervous system disease 31.1 SERPINA3 PRODH MIR21 MIR199A1 MIR126 H2AC18
18 central nervous system disease 31.1 SERPINA3 PRODH MIR21 MIR199A1 MIR126 H2AC18
19 familial hyperlipidemia 31.1 INS H2AC18 GPT CRP COG2 APOB
20 familial hypercholesterolemia 31.1 INS H2AC18 GPT CRP COG2 APOB
21 diabetes mellitus 31.1 MIR126 INS HFE GPT CRP COG2
22 arteriosclerosis 31.1 MIR21 MIR126 INS GPT CRP COG2
23 deficiency anemia 31.1 INS HFE H2AC18 FECH CRP
24 liver disease 31.1 SERPINA3 INS HFE GPT FECH ADIPOQ
25 macular degeneration, age-related, 1 31.0 SERPINA3 INS H2AC18 CRP APOB
26 organic acidemia 31.0 PRODH NAGS BLOC1S1
27 body mass index quantitative trait locus 11 31.0 SERPINA3 PRODH MIR21 MIR199A1 MIR126 INS
28 celiac disease 1 30.8 NAGS INS HFE H2AC18 CRP CCR6
29 fatty liver disease 30.8 MIR33B INS GPT CRP APOB ADIPOQ
30 liver cirrhosis 30.8 SERPINA3 MIR199A1 INS HFE GPT CRP
31 hypothyroidism 30.7 INS GPT CRP COG2 APOB ADIPOQ
32 alpha-1-antitrypsin deficiency 30.7 SERPINA3 HFE GPT
33 pelizaeus-merzbacher disease 30.7 SERPINA3 PRODH H2AC18
34 tangier disease 30.7 MIR33B MIR33A APOB
35 respiratory failure 30.5 SERPINA3 H2AC18 GPT CRP
36 aceruloplasminemia 30.4 SERPINA3 INS HFE H2AC18
37 steroid inherited metabolic disorder 12.5
38 pentosuria 11.9
39 aminoacylase 1 deficiency 11.9
40 megaloblastic anemia 11.9
41 3-methylglutaconic aciduria, type i 11.9
42 inborn amino acid metabolism disorder 11.9
43 beta-ureidopropionase deficiency 11.8
44 leukotriene c4 synthase deficiency 11.7
45 homocystinuria-megaloblastic anemia, cble complementation type 11.7
46 megaloblastic anemia due to dihydrofolate reductase deficiency 11.7
47 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.7
48 uridine-cytidineuria 11.7
49 alkaptonuria 11.6
50 galactokinase deficiency 11.6

Graphical network of the top 20 diseases related to Inherited Metabolic Disorder:



Diseases related to Inherited Metabolic Disorder

Symptoms & Phenotypes for Inherited Metabolic Disorder

Drugs & Therapeutics for Inherited Metabolic Disorder

Drugs for Inherited Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 191)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
3
Budesonide Approved Phase 4 51333-22-3 63006 5281004
4 Hypolipidemic Agents Phase 4
5 Anticholesteremic Agents Phase 4
6 Lipid Regulating Agents Phase 4
7 Clofibric Acid Phase 4 882-09-7
8 Respiratory System Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Bronchodilator Agents Phase 4
11
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
12
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
13
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
14
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
15
Mipomersen Approved, Investigational Phase 3 1000120-98-8
16
Metronidazole Approved Phase 3 443-48-1 4173
17
Nitisinone Approved, Investigational Phase 3 104206-65-7 115355
18
Iron Approved, Experimental Phase 2, Phase 3 7439-89-6, 15438-31-0 23925 27284
19
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
20
Ezetimibe Approved Phase 3 163222-33-1 150311
21
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
22
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
23
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
24
Cobalamin Experimental Phase 3 13408-78-1 6857388
25
Uric acid Investigational Phase 3 69-93-2 1175
26
Tetrathiomolybdate Investigational Phase 3 16330-92-0
27 Antimetabolites Phase 3
28 carnitine Phase 3
29 Phytosterol Phase 3
30 Vitamin B 12 Phase 3
31 Vitamin B12 Phase 3
32 Analgesics, Non-Narcotic Phase 3
33 Analgesics Phase 3
34 Cyclooxygenase Inhibitors Phase 3
35 Tocolytic Agents Phase 3
36 Anti-Inflammatory Agents, Non-Steroidal Phase 3
37 Angiogenesis Inhibitors Phase 3
38 Chelating Agents Phase 3
39 Trientine Phase 3
40 Vitamin B7 Phase 3
41 Gamma-sitosterol Phase 3
42
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
43
Phenylacetic acid Approved Phase 2 103-82-2 999
44
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
45
Melphalan Approved Phase 2 148-82-3 4053 460612
46
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
47
Hydroxyurea Approved Phase 2 127-07-1 3657
48
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
49
Calcium carbonate Approved, Investigational Phase 2 471-34-1
50
Nitric Oxide Approved Phase 2 10102-43-9 145068

Interventional clinical trials:

(show top 50) (show all 238)
# Name Status NCT ID Phase Drugs
1 Study of Zinc for Wilson Disease Completed NCT00004338 Phase 4 zinc acetate
2 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
3 An Open Label Six-Month Maintenance Clinical Trial of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Who Have Completed TKT027 Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
4 Diesel Exhaust Induces Glucocorticoid Resistance Recruiting NCT03615742 Phase 4 Budesonide
5 A Multicenter, Double-Blind, Placebo-Controlled Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
6 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
7 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
8 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
9 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Adding Ezetimibe 30 mg to An Ongoing Regimen of Ezetimibe 10 mg in Patients Homozygous Sitosterolemia Completed NCT00092898 Phase 3 MK0653, ezetimibe;Comparator: placebo
10 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of MK0653 When Added to Current Regimen in Patients With Homozygous Sitosterolemia Completed NCT00092820 Phase 3 MK0653, ezetimibe;Comparator: placebo
11 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of MK0653 When Added to Current Regimen in Patients With Homozygous Sitosterolemia - 1 Year Open-Label Extension Completed NCT00092807 Phase 3 MK0653, ezetimibe;Comparator: placebo
12 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Trial of the Safety of Rilonacept for the Prophylaxis of Gout Flares in Patients on Urate- Lowering Therapy Completed NCT00856206 Phase 3
13 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00829829 Phase 3 Rilonacept 80 mg;Rilonacept 160 mg
14 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00958438 Phase 3 Placebo;Rilonacept;Rilonacept
15 A Multi-Center, Randomized, Double-Blind, Active-Controlled Study of the Safety and Efficacy of Rilonacept Administered Subcutaneously for the Treatment of an Acute Gout Flare Completed NCT00855920 Phase 3 Rilonacept;Indomethacin
16 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
17 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
18 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
19 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3 Mipomersen Sodium
20 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00607373 Phase 3 mipomersen;Placebo
21 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
22 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
23 Open-label, Multicentre, Multiple-dose Trial to Evaluate Pharmacokinetics, Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Orfadin in Patients Diagnosed With Hereditary Tyrosinemia Type 1 Completed NCT02323529 Phase 3 Nitisinone
24 A Study to Assess Adding Ezetimibe 30 mg to Ongoing Treatment With Ezetimibe 10 mg in Patients With Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
25 A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ORGN001 (Formerly ALXN1101) in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A Recruiting NCT02629393 Phase 2, Phase 3 ORGN001 (formerly ALXN1101)
26 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
27 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Recruiting NCT03853798 Phase 3 AG-348
28 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Recruiting NCT03559699 Phase 3 AG-348
29 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Subjects With Pyruvate Kinase Deficiency Recruiting NCT03548220 Phase 3 AG-348;Placebo
30 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
31 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
32 An Open-Label, Worldwide, Treatment Use Study to Provide Ezetimibe 10 Mg/Day to Patients With Homozygous Familial Hypercholesterolemia or Homozygous Sitosterolemia Terminated NCT00092833 Phase 3 Comparator: ezetimibe
33 A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Terminated NCT02960217 Phase 3 UX007;Placebo
34 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
35 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
36 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
37 The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V) Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
38 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
39 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRX (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
40 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
41 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
42 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
43 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
44 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
45 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
46 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Completed NCT00004314 Phase 2 aminomidazole carboxamide riboside
47 An Open-Label Extension Study to Assess the Long-term Safety and Efficacy of Mipomersen in Subjects With Familial Hypercholesterolemia Completed NCT00477594 Phase 2 mipomersen sodium
48 Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity Completed NCT00004658 Phase 2 ribose;thymidine;uridine
49 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
50 Is Autologous Umbilical Cord Blood Reinfusion Beneficial in Children With Cerebral Palsy: A Randomized, Blinded, Placebo-Controlled, Crossover Study Completed NCT01147653 Phase 2

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Biotin
D-BIOTIN

Cochrane evidence based reviews: metabolism, inborn errors

Genetic Tests for Inherited Metabolic Disorder

Anatomical Context for Inherited Metabolic Disorder

MalaCards organs/tissues related to Inherited Metabolic Disorder:

40
Liver, Testes, Brain, Bone, Bone Marrow, Kidney, T Cells

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 3240)
# Title Authors PMID Year
1
Medical Etiologies of Secondary Psychosis in Children and Adolescents. 61
31708051 2020
2
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. 61
31645654 2020
3
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications. 61
31604629 2020
4
The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation. 61
31516833 2019
5
Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets. 61
31839097 2019
6
A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome. 61
31469588 2019
7
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. 61
31821167 2019
8
Hypermethioninemia in Campania: Results from 10 years of newborn screening. 61
31641591 2019
9
Serum Newborn Screening Blood Metabolites Are not Associated With Childhood-onset Inflammatory Bowel Disease: A Population-based Matched Case-control Study. 61
31829416 2019
10
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report. 61
31842933 2019
11
Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology. 61
31854203 2019
12
Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy. 61
31294795 2019
13
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform. 61
31779119 2019
14
A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals Intra-organelle Buffering. 61
31730859 2019
15
Sterolomics in biology, biochemistry, medicine. 61
31839688 2019
16
Companion animal models of neurological disease. 61
31733285 2019
17
3-Methylglutaric acid in energy metabolism. 61
31730811 2019
18
Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study. 61
31766106 2019
19
Biomarkers for diagnosis of Wilson's disease. 61
31743430 2019
20
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content. 61
30901028 2019
21
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. 61
31703595 2019
22
Expanding the clinical utility of glucosylsphingosine for Gaucher disease. 61
31707742 2019
23
Dietary Trace Minerals. 61
31752257 2019
24
Intellectual functioning in alpha-mannosidosis. 61
31741826 2019
25
Management of Patients With Erythropoietic Protoporphyria-Related Progressive Liver Disease. 61
31469227 2019
26
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. 61
31707734 2019
27
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
28
Current progress in hepatic tissue regeneration by tissue engineering. 61
31752920 2019
29
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. 61
31683770 2019
30
Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. 61
31738301 2019
31
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
32
Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options. 61
31101546 2019
33
Severe hyperammonemia from intense skeletal muscle activity: A rare case report and literature review. 61
31764807 2019
34
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. 61
31473686 2019
35
Culturable gut bacteria lack Escherichia coli in children with phenylketonuria. 61
31763047 2019
36
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature. 61
31701331 2019
37
Inborn errors of metabolism leading to neuronal migration defects. 61
31747049 2019
38
Progress and challenges in development of new therapies for urea cycle disorders. 61
31227828 2019
39
Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism. 61
31517544 2019
40
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. 61
31640247 2019
41
Inborn Errors of Metabolism in India- Where We are At! 61
31506781 2019
42
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. 61
31677975 2019
43
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected Pakistani Cohorts. 61
31584309 2019
44
Clinical Spectrum of Inherited Disorders of Metabolism. 61
31222555 2019
45
NMR-based metabolomics in pediatric drug resistant epilepsy - preliminary results. 61
31636291 2019
46
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology. 61
31402115 2019
47
Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know? 61
31638009 2019
48
Continuous Renal Replacement Therapy for Treatment of Severe Attacks of Inborn Errors of Metabolism. 61
31402993 2019
49
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment. 61
31358473 2019
50
SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, The Netherlands, 3-6 September 2019. 61
31448422 2019

Variations for Inherited Metabolic Disorder

Expression for Inherited Metabolic Disorder

Search GEO for disease gene expression data for Inherited Metabolic Disorder.

Pathways for Inherited Metabolic Disorder

Pathways related to Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 SERPINA3 INS CRP APOB
2 11 MIR33B MIR33A INS

GO Terms for Inherited Metabolic Disorder

Cellular components related to Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.36 SERPINA3 MIR21 MIR199A1 MIR126 INS HFE

Biological processes related to Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 MIR21 MIR126 INS
2 positive regulation of protein kinase B signaling GO:0051897 9.56 MIR21 MIR199A1 MIR126 INS
3 gene silencing by miRNA GO:0035195 9.55 MIR33B MIR33A MIR21 MIR199A1 MIR126
4 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.48 CRP ADIPOQ
5 negative regulation of blood vessel diameter GO:0097756 9.43 INS CRP
6 positive regulation of gene expression GO:0010628 9.43 MIR33B MIR21 INS HFE CRP APOB
7 positive regulation of peptide hormone secretion GO:0090277 9.4 INS HFE
8 negative regulation of receptor binding GO:1900121 9.37 HFE ADIPOQ
9 positive regulation of high-density lipoprotein particle clearance GO:0010983 9.32 MIR33B MIR33A
10 acute-phase response GO:0006953 8.92 SERPINA3 INS HFE CRP

Molecular functions related to Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 8.92 MIR33A MIR21 MIR199A1 MIR126

Sources for Inherited Metabolic Disorder

3 CDC
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33 ICD10 via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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