MCID: INH020
MIFTS: 47

Inherited Metabolic Disorder

Categories: 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 29 6 15 70
Metabolic Hereditary Disorder 12
Inborn Metabolism Disorder 12
Inborn Error of Metabolism 73
Inborn Metabolic Disorder 73
Metabolism, Inborn Errors 44

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 44 D008661
NCIt 50 C34816
SNOMED-CT 67 86095007
UMLS 70 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 amino acid metabolic disorder and carbohydrate metabolic disorder. An important gene associated with Inherited Metabolic Disorder is TKFC (Triokinase And FMN Cyclase), and among its related pathways/superpathways is MicroRNAs in cancer. The drugs Zinc and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and kidney.

Wikipedia : 73 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 834)
# Related Disease Score Top Affiliating Genes
1 amino acid metabolic disorder 32.4 SERPINA3 PRODH NAGS KDM4C H2AC18
2 carbohydrate metabolic disorder 32.3 PRODH KDM4C INS H2AC18
3 metal metabolism disorder 32.3 INS HFE H2AC18 GPT
4 lipid metabolism disorder 32.3 PPARA MIR126 MIR122 INS APOB
5 lysosomal storage disease 32.3 SERPINA3 PPARA MIR33B MIR21 MIR199A1 MIR122
6 plasma protein metabolism disease 32.3 SERPINA3 GPT CCR6
7 hemochromatosis, type 1 31.5 MIR199A1 INS HFE H2AC18 GPT FECH
8 fatty liver disease 31.3 PPARA MIR122 INS HFE GPT APOB
9 vascular disease 31.2 MIR21 MIR199A1 MIR126 INS APOB
10 autosomal recessive disease 31.2 TKFC SERPINA3 PRODH H2AC18 CCR6
11 peripheral nervous system disease 31.2 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR126
12 alpha-1-antitrypsin deficiency 31.1 SERPINA3 HFE GPT
13 liver disease 31.0 SERPINA3 PPARA MIR122 INS HFE GPT
14 demyelinating disease 31.0 SERPINA3 PRODH MIR155 MIR126 H2AC18 CCR6
15 central nervous system disease 31.0 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR155
16 celiac disease 1 30.9 INS HFE H2AC18 GPT CCR6
17 respiratory failure 30.9 SERPINA3 PPARA MIR126 H2AC18 GPT CCR6
18 deficiency anemia 30.9 SERPINA3 INS HFE H2AC18 GPT FECH
19 nervous system disease 30.9 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR155
20 arteriosclerosis 30.9 PPARA MIR21 MIR155 MIR126 INS GPT
21 immune deficiency disease 30.9 SERPINA3 MIR34A MIR21 MIR199A1 MIR155 MIR126
22 familial hyperlipidemia 30.9 PPARA INS GPT APOB
23 macular degeneration, age-related, 1 30.9 SERPINA3 INS H2AC18 CCR6 APOB
24 diabetes mellitus 30.8 PPARA MIR34A MIR155 MIR126 INS HFE
25 abdominal obesity-metabolic syndrome 1 30.7 PPARA MIR122 INS APOB
26 steroid inherited metabolic disorder 11.5
27 phenylketonuria 11.4
28 3-methylglutaconic aciduria, type i 11.4
29 megaloblastic anemia 11.4
30 intrinsic factor deficiency 11.4
31 congenital intrinsic factor deficiency 11.4
32 homocystinuria-megaloblastic anemia, cble complementation type 11.4
33 megaloblastic anemia due to dihydrofolate reductase deficiency 11.4
34 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.4
35 uridine-cytidineuria 11.4
36 methionine adenosyltransferase i/iii deficiency 11.3
37 homocystinuria-megaloblastic anemia, cblg complementation type 11.3
38 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.3
39 3-methylglutaconic aciduria, type vii 11.3
40 inborn amino acid metabolism disorder 11.3
41 alkaptonuria 11.3
42 argininosuccinic aciduria 11.3
43 pentosuria 11.3
44 sudden infant death syndrome 11.3
45 cerebral creatine deficiency syndrome 1 11.3
46 congenital disorder of glycosylation, type in 11.3
47 acyl-coa dehydrogenase, short-chain, deficiency of 11.2
48 galactosemia ii 11.2
49 phosphoglycerate kinase 1 deficiency 11.2
50 5-oxoprolinase deficiency 11.2

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 189)
# 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 Antimetabolites Phase 4
5 Anticholesteremic Agents Phase 4
6 Lipid Regulating Agents Phase 4
7 Hypolipidemic Agents Phase 4
8 Clofibric Acid Phase 4 882-09-7
9 Hormone Antagonists Phase 4
10 Hormones Phase 4
11 glucocorticoids Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Anti-Asthmatic Agents Phase 4
14 Respiratory System Agents Phase 4
15 Bronchodilator Agents Phase 4
16
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
17
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
18
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
19
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
20
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
21
Mipomersen Approved, Investigational Phase 3 1000120-98-8
22
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
23
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
24
Metronidazole Approved Phase 3 443-48-1 4173
25
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
26
Ezetimibe Approved Phase 3 163222-33-1 150311
27
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
28
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
29
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
30
Tetrathiomolybdate Investigational Phase 3 16330-92-0
31
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
32
Cobalamin Experimental Phase 3 13408-78-1 6857388
33 carnitine Phase 3
34 Chelating Agents Phase 3
35 Angiogenesis Inhibitors Phase 3
36 Trientine Phase 3
37 Vitamin B Complex Phase 3
38 Methylprednisolone Acetate Phase 2, Phase 3
39 Phytosterol Phase 3
40 Vitamin B12 Phase 3
41 Vitamin B 12 Phase 3
42 Gamma-sitosterol Phase 3
43 Vitamin B7 Phase 3
44 pyruvate Phase 3
45
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
46
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
47
Phenylacetic acid Approved Phase 2 103-82-2 999
48
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
49
Calcium carbonate Approved, Investigational Phase 2 471-34-1
50
Melphalan Approved Phase 2 148-82-3 4053 460612

Interventional clinical trials:

(show top 50) (show all 178)
# 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 Diesel Exhaust Induces Glucocorticoid Resistance Recruiting NCT03615742 Phase 4 Budesonide
4 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
5 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
6 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
7 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
8 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
9 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
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 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
13 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
14 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
15 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
16 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Completed NCT03559699 Phase 3 AG-348
17 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 Completed NCT03548220 Phase 3 AG-348;Placebo
18 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
19 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
20 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
21 A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A Recruiting NCT02629393 Phase 2, Phase 3 ORGN001 (formerly ALXN1101)
22 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
23 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Active, not recruiting NCT03853798 Phase 3 AG-348
24 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
25 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
26 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
27 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
28 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
29 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
30 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
31 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
32 Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) Completed NCT00176891 Phase 2 Laronidase ERT
33 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
34 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
35 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
36 Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity Completed NCT00004658 Phase 2 ribose;thymidine;uridine
37 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
38 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
39 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Patients With Severe Aplastic Anemia, Inborn Errors in Metabolism, or Inherited Hematologic Stem Cell Disorders Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
40 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Apolipoprotein B(ApoB) Reduction by ISIS 301012 on Liver Triglyceride Content in Subjects With Varying Degrees of Hyperlipidemia Completed NCT00362180 Phase 2 mipomersen;Placebo
41 A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
42 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
43 CD34+Stem Cell Selection for Patients Receiving Partially Matched Family or Matched Unrelated Adult Donor Allogeneic Stem Cell Transplantations for Malignant and Non-Malignant Disease Completed NCT01049854 Phase 2 Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
44 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
45 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Completed NCT02036853 Phase 2 Triheptanoin
46 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study to Assess the Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Completed NCT01993186 Phase 2 UX007;Placebo
47 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
48 A Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT Mutations Recruiting NCT04581785 Phase 1, Phase 2
49 A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study Recruiting NCT04732429 Phase 2 HST5040;Placebo
50 Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL) Recruiting NCT03776656 Phase 2 Allopurinol

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Biotin
D-BIOTIN

Cochrane evidence based reviews: metabolism, inborn errors

Genetic Tests for Inherited Metabolic Disorder

Genetic tests related to Inherited Metabolic Disorder:

# Genetic test Affiliating Genes
1 Inborn Errors of Metabolism 29

Anatomical Context for Inherited Metabolic Disorder

MalaCards organs/tissues related to Inherited Metabolic Disorder:

40
Bone Marrow, Liver, Kidney, Skin, T Cells, Bone, Cortex

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 3509)
# Title Authors PMID Year
1
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency. 61
33549404 2021
2
Uncovering the multifaceted roles played by neutrophils in allogeneic hematopoietic stem cell transplantation. 61
33203938 2021
3
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. 61
33567294 2021
4
Thiolatocobalamins repair the activity of pathogenic variants of the human cobalamin processing enzyme CblC. 61
33190793 2021
5
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. 61
33798442 2021
6
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. 61
33741272 2021
7
Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches. 61
33675210 2021
8
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism. 61
33742102 2021
9
Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study. 61
33691734 2021
10
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes. 61
33775522 2021
11
β3-Adrenoreceptors as ROS Balancer in Hematopoietic Stem Cell Transplantation. 61
33799536 2021
12
Review: Neonatal dialysis is technically feasible but ethical and global issues need to be addressed. 61
33373057 2021
13
Current and Emerging Clinical Treatment in Mitochondrial Disease. 61
33646563 2021
14
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report. 61
33773571 2021
15
Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns. 61
33736999 2021
16
Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation. 61
33667052 2021
17
Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry. 61
33804641 2021
18
Assessment of the effects of repeated freeze thawing and extended bench top processing of plasma samples using untargeted metabolomics. 61
33704583 2021
19
Isomerization of trans-3-methylglutaconic acid. 61
33728248 2021
20
Homocysteine - what is it good for? 61
33738835 2021
21
Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend. 61
33770346 2021
22
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach. 61
33745796 2021
23
Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children. 61
33228944 2021
24
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. 61
33485800 2021
25
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency. 61
33543789 2021
26
Autism: Screening of inborn errors of metabolism and unexpected results. 61
33605552 2021
27
Bone mineral density and fracture risk in adult patients with hypophosphatasia. 61
32879991 2021
28
Alkaptonuria in an adolescent boy. 61
33541951 2021
29
Reliability of transcutaneous bilirubin determination based on skin color determined by a neonatal skin color scale of our own. 61
33409587 2021
30
Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism. 61
33522566 2021
31
Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial-Lysosomal Axis. 61
33671306 2021
32
Inborn Errors of Metabolism in Pediatric Palliative Care. 61
33600034 2021
33
Liver-directed gene-based therapies for inborn errors of metabolism. 61
32880494 2021
34
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. 61
33574263 2021
35
Impact of dietary interventions in inborn errors of metabolism in paediatric dentistry: Review of the literature and case series. 61
33598242 2021
36
Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism. 61
33586825 2021
37
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains. 61
33483254 2021
38
Enhancement of liver-directed transgene expression at initial and repeat doses of AAV vectors admixed with ImmTOR nanoparticles. 61
33627416 2021
39
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease. 61
33388235 2021
40
Mind the Quality Gap When Banking on Dry Blood Spots. 61
33567235 2021
41
The "Dangles" - Wrist, Finger and Thumb Drop: A Case Report of Saturday Night Palsy and a Historical and Molecular Detour. 61
33717737 2021
42
Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease. 61
33495167 2021
43
Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review. 61
33249780 2021
44
Pancreatic involvement in patients with inborn errors of metabolism. 61
33472655 2021
45
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry. 61
33185574 2021
46
Tyrosine supplementation for phenylketonuria. 61
33427303 2021
47
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures. 61
33546543 2021
48
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. 61
32785952 2021
49
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population. 61
33514801 2021
50
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms. 61
32654164 2021

Variations for Inherited Metabolic Disorder

ClinVar genetic disease variations for Inherited Metabolic Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TKFC NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser) SNV Likely pathogenic 816700 rs1590578831 GRCh37: 11:61112824-61112824
GRCh38: 11:61345352-61345352
2 TKFC NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile) SNV Likely pathogenic 816699 rs547013163 GRCh37: 11:61113875-61113875
GRCh38: 11:61346403-61346403

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 11.59 MIR34A MIR21 MIR199A1 MIR155 MIR126 MIR122

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 exosome GO:0070062 9.81 TKFC SERPINA3 MIR34A MIR21 MIR155 MIR122
2 extracellular space GO:0005615 9.32 SERPINA3 MIR21 MIR199A1 MIR155 MIR126 MIR122
3 extracellular vesicle GO:1903561 9.26 MIR34A MIR21 MIR126 MIR122

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.73 MIR21 MIR199A1 MIR126 INS
2 positive regulation of inflammatory response GO:0050729 9.71 MIR21 MIR155 MIR126
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.7 MIR21 MIR126 INS
4 cholesterol homeostasis GO:0042632 9.62 MIR34A MIR33B MIR155 APOB
5 positive regulation of cell death GO:0010942 9.58 PRODH MIR34A MIR155
6 positive regulation of lipid storage GO:0010884 9.56 MIR34A APOB
7 negative regulation of cell growth involved in cardiac muscle cell development GO:0061052 9.55 PPARA MIR199A1
8 acute-phase response GO:0006953 9.54 SERPINA3 INS HFE
9 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.51 MIR199A1 MIR155
10 gene silencing by miRNA GO:0035195 9.5 MIR34A MIR33B MIR21 MIR199A1 MIR155 MIR126
11 positive regulation of peptide hormone secretion GO:0090277 9.49 INS HFE
12 negative regulation of vascular wound healing GO:0061044 9.48 MIR34A MIR155
13 negative regulation of regulatory T cell differentiation GO:0045590 9.46 MIR21 MIR155
14 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.43 PPARA MIR21 INS
15 positive regulation of connective tissue replacement GO:1905205 9.33 MIR34A MIR199A1 MIR155
16 positive regulation of gene expression GO:0010628 9.23 MIR34A MIR33B MIR21 MIR155 KDM4C INS

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 9.02 MIR34A MIR21 MIR199A1 MIR155 MIR126

Sources for Inherited Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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