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 6 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 is MicroRNAs in cancer. 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 850)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 33.3 SERPINA3 MIR33B MIR21 MIR199A1 MIR155 MIR122
2 lipid storage disease 33.3 SERPINA3 MIR33B MIR21 MIR199A1 MIR155 MIR122
3 amino acid metabolic disorder 32.7 SERPINA3 PRODH NAGS KDM4C H2AC18 EPRS1
4 carbohydrate metabolic disorder 32.7 PRODH KDM4C INS H2AC18
5 lipid metabolism disorder 32.7 MIR21 MIR126 MIR122 INS H2AC18 APOB
6 metal metabolism disorder 32.7 INS HFE H2AC18 GPT
7 plasma protein metabolism disease 32.6 SERPINA3 GPT CCR6
8 autosomal recessive disease 31.5 SERPINA3 PRODH KDM4C H2AC18 EPRS1 CCR6
9 peripheral nervous system disease 31.4 SERPINA3 PRODH MIR21 MIR126 INS H2AC18
10 vascular disease 31.4 MIR21 MIR199A1 MIR126 INS APOB ADIPOQ
11 abdominal obesity-metabolic syndrome 1 31.2 MIR122 INS APOB ADIPOQ
12 demyelinating disease 31.2 SERPINA3 PRODH MIR155 MIR126 H2AC18 CCR6
13 hypercholesterolemia, familial, 1 31.2 INS GPT APOB
14 central nervous system disease 31.2 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR155
15 nervous system disease 31.2 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR155
16 familial hyperlipidemia 31.1 INS H2AC18 GPT APOB ADIPOQ
17 fatty liver disease, nonalcoholic 1 31.1 INS GPT ADIPOQ
18 diabetes mellitus 31.1 MIR34A MIR155 MIR126 INS HFE GPT
19 familial hypercholesterolemia 31.1 INS H2AC18 GPT APOB ADIPOQ
20 arteriosclerosis 31.1 MIR21 MIR155 MIR126 INS GPT APOB
21 non-alcoholic fatty liver disease 31.1 MIR34A MIR21 MIR199A1 MIR155 MIR126 MIR122
22 body mass index quantitative trait locus 11 31.1 SERPINA3 PRODH MIR34A MIR21 MIR199A1 MIR155
23 liver disease 31.0 SERPINA3 MIR122 INS HFE GPT FECH
24 macular degeneration, age-related, 1 31.0 SERPINA3 INS H2AC18 CCR6 APOB
25 hepatocellular carcinoma 31.0 SERPINA3 MIR34A MIR21 MIR199A1 MIR155 MIR126
26 celiac disease 1 30.8 NAGS INS HFE H2AC18 CCR6
27 liver cirrhosis 30.8 SERPINA3 MIR199A1 MIR122 HFE GPT ADIPOQ
28 fatty liver disease 30.8 MIR33B MIR21 MIR155 MIR122 INS HFE
29 coronavirus infectious disease 30.8 SERPINA3 H2AC18 CCR6
30 speech disorder 30.7 PRODH H2AC18 EPRS1
31 pelizaeus-merzbacher disease 30.7 SERPINA3 PRODH H2AC18
32 alpha-1-antitrypsin deficiency 30.6 SERPINA3 HFE GPT
33 respiratory failure 30.5 SERPINA3 H2AC18 GPT CCR6
34 steroid inherited metabolic disorder 12.5
35 pentosuria 11.9
36 aminoacylase 1 deficiency 11.9
37 megaloblastic anemia 11.9
38 3-methylglutaconic aciduria, type i 11.9
39 inborn amino acid metabolism disorder 11.9
40 beta-ureidopropionase deficiency 11.8
41 leukotriene c4 synthase deficiency 11.7
42 homocystinuria-megaloblastic anemia, cble complementation type 11.7
43 megaloblastic anemia due to dihydrofolate reductase deficiency 11.7
44 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.7
45 uridine-cytidineuria 11.7
46 alkaptonuria 11.6
47 sudden infant death syndrome 11.6
48 cerebral creatine deficiency syndrome 1 11.6
49 tetrahydrobiopterin deficiency 11.6
50 acyl-coa dehydrogenase, short-chain, deficiency of 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 184)
# 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
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
12
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
13
Mipomersen Approved, Investigational Phase 3 1000120-98-8
14
Nitisinone Approved, Investigational Phase 3 104206-65-7 115355
15
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
16
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
17
Ezetimibe Approved Phase 3 163222-33-1 150311
18
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
19
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
20
Uric acid Investigational Phase 3 69-93-2 1175
21
Tetrathiomolybdate Investigational Phase 3 16330-92-0
22 carnitine Phase 3
23 Antimetabolites Phase 3
24 Phytosterol Phase 3
25 Analgesics, Non-Narcotic Phase 3
26 Analgesics Phase 3
27 Cyclooxygenase Inhibitors Phase 3
28 Tocolytic Agents Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 3
30 Angiogenesis Inhibitors Phase 3
31 Chelating Agents Phase 3
32 Trientine Phase 3
33 Vitamin B7 Phase 3
34 Gamma-sitosterol Phase 3
35 pyruvate Phase 3
36
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
37
Phenylacetic acid Approved Phase 2 103-82-2 999
38
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
41
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
44
Melphalan Approved Phase 2 148-82-3 460612 4053
45
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
46
Calcium carbonate Approved, Investigational Phase 2 471-34-1
47
Nitric Oxide Approved Phase 2 10102-43-9 145068
48
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
49
Lenograstim Approved, Investigational Phase 2 135968-09-1
50
Fomepizole Approved, Vet_approved Phase 2 7554-65-6 3406

Interventional clinical trials:

(show top 50) (show all 247)
# 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 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
9 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
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 - 1 Year Open-Label Extension Completed NCT00092807 Phase 3 MK0653, ezetimibe;Comparator: placebo
11 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
12 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
13 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
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 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
16 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
17 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
18 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
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 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
21 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
22 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
23 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
24 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
25 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)
26 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
27 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
28 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Active, not 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 Active, not 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 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
41 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
42 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
43 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
44 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
45 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
46 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
47 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
48 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
49 Is Autologous Umbilical Cord Blood Reinfusion Beneficial in Children With Cerebral Palsy: A Randomized, Blinded, Placebo-Controlled, Crossover Study Completed NCT01147653 Phase 2
50 Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity Completed NCT00004658 Phase 2 ribose;thymidine;uridine

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 3329)
# Title Authors PMID Year
1
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10. 61
32461912 2020
2
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency. 61
32509533 2020
3
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. 61
32515140 2020
4
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review. 61
32511901 2020
5
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene. 61
32578945 2020
6
Rare causes of hypoglycemia in adults. 61
32409005 2020
7
Continuous renal replacement therapy and transplant-free survival in acute liver failure: protocol for a systematic review and meta-analysis. 61
32546277 2020
8
[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy]. 61
32542434 2020
9
Mineral intake and clinical symptoms in adult patients with Hypophosphatasia. 61
32502243 2020
10
The use of machine learning in rare diseases: a scoping review. 61
32517778 2020
11
DDIEM: drug database for inborn errors of metabolism. 61
32527280 2020
12
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. 61
32523032 2020
13
Role of mitochondrial acyl-CoA dehydrogenases in the metabolism of dicarboxylic fatty acids. 61
32446361 2020
14
Is the gut microbiota dysbiotic in patients with classical homocystinuria? 61
32105814 2020
15
In Matrix Derivatization Combined with LC-MS/MS Results in Ultrasensitive Quantification of Plasma Free Metanephrines and Catecholamines. 61
32484659 2020
16
Expanding the clinical utility of glucosylsphingosine for Gaucher disease. 61
31707742 2020
17
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
18
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant. 61
32389998 2020
19
Saccadic reaction time and ocular findings in phenylketonuria. 61
32450880 2020
20
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. 61
31707734 2020
21
[Progress of research on the role of CLCNKB gene in classical Bartter syndrome]. 61
32335890 2020
22
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family. 61
32238606 2020
23
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. 61
32405030 2020
24
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet. 61
32145964 2020
25
Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians. 61
32395413 2020
26
Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment. 61
32518427 2020
27
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa. 61
32418222 2020
28
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism. 61
32481712 2020
29
Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature. 61
32489413 2020
30
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. 61
32443888 2020
31
Opportunities and challenges for antisense oligonucleotide therapies. 61
32391605 2020
32
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics. 61
32443577 2020
33
Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China. 61
31916308 2020
34
Chemical individuality in T cells: A Garrodian view of immunometabolism. 61
32236968 2020
35
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations. 61
32122747 2020
36
Social media, alternative metrics and inborn errors of metabolism. 61
32320065 2020
37
[Current and new therapeutic options in inborn errors of metabolism]. 61
32496691 2020
38
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations. 61
32286592 2020
39
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy. 61
32354056 2020
40
Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor. 61
32294159 2020
41
Therapeutic Enteral Formulas in Children. 61
32038034 2020
42
Pediatric hemophagocytic lymphohistiocytosis. 61
32107531 2020
43
Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female. 61
32252669 2020
44
Metabolic Disorders Presenting with Seizures in the Neonatal Period. 61
32185789 2020
45
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism. 61
32307446 2020
46
Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism. 61
32071968 2020
47
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases. 61
32304865 2020
48
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies. 61
32319100 2020
49
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia. 61
32258481 2020
50
Effect of enteral erythropoietin on feeding-related complications in preterm newborns: A pilot randomized controlled study. 61
32241699 2020

Variations for Inherited Metabolic Disorder

ClinVar genetic disease variations for Inherited Metabolic Disorder:

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

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 space GO:0005615 9.36 SERPINA3 MIR21 MIR199A1 MIR155 MIR126 MIR122
2 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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.73 INS MIR126 MIR199A1 MIR21
2 positive regulation of inflammatory response GO:0050729 9.72 MIR126 MIR155 MIR21
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 INS MIR126 MIR21
4 cholesterol homeostasis GO:0042632 9.62 APOB MIR155 MIR33B MIR34A
5 positive regulation of cell death GO:0010942 9.58 MIR155 MIR34A PRODH
6 acute-phase response GO:0006953 9.54 HFE INS SERPINA3
7 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.52 MIR155 MIR199A1
8 positive regulation of peptide hormone secretion GO:0090277 9.51 HFE INS
9 gene silencing by miRNA GO:0035195 9.5 MIR122 MIR126 MIR155 MIR199A1 MIR21 MIR33B
10 negative regulation of receptor binding GO:1900121 9.49 ADIPOQ HFE
11 negative regulation of regulatory T cell differentiation GO:0045590 9.48 MIR155 MIR21
12 negative regulation of vascular wound healing GO:0061044 9.46 MIR155 MIR34A
13 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.43 ADIPOQ MIR21 MIR34A
14 positive regulation of connective tissue replacement GO:1905205 9.33 MIR155 MIR199A1 MIR34A
15 positive regulation of gene expression GO:0010628 9.23 APOB HFE INS KDM4C MIR155 MIR21

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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