MCID: INH020
MIFTS: 51

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 72
Metabolic Hereditary Disorder 12
Inborn Metabolism Disorder 12
Inborn Error of Metabolism 75
Inborn Metabolic Disorder 75
Metabolism, Inborn Errors 44

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 44 D008661
NCIt 50 C34816
SNOMED-CT 68 86095007
UMLS 72 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 cholesterol ester storage disease and lipid storage disease. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Carbon metabolism. The drugs Allopurinol and Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 75 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 646)
# Related Disease Score Top Affiliating Genes
1 cholesterol ester storage disease 33.1 SERPINA1 COG2 APOB
2 lipid storage disease 33.0 SREBF1 INS GLA GBA CLN3
3 lysosomal storage disease 32.9 GLA GBA CLN3
4 metal metabolism disorder 32.6 HFE HAMP ATP7B
5 lipid metabolism disorder 32.5 INS COG2 APOB APOA1
6 vascular disease 31.1 MTHFR INS APOB APOA1
7 fatty liver disease, nonalcoholic 1 31.1 SREBF1 INS GPT
8 hemosiderosis 31.0 HFE HAMP GPT
9 wilson disease 31.0 HFE GPT ATP7B
10 porphyria cutanea tarda 31.0 HFE HAMP FECH
11 arteriosclerosis 31.0 INS COG2 APOB APOA1
12 familial hyperlipidemia 30.8 INS GBA COG2 APOB APOA1
13 diabetes mellitus 30.8 INS HFE COG2 APOB APOA1
14 liver disease 30.7 SERPINA3 SERPINA1 INS HFE GPT
15 alpha-1-antitrypsin deficiency 30.6 SERPINA3 SERPINA1 HFE
16 hemochromatosis, type 1 30.5 SERPINA1 HFE HAMP ATP7B
17 body mass index quantitative trait locus 11 30.5 SREBF1 INS GPT CYP21A2 COG2 APOB
18 steroid inherited metabolic disorder 12.5
19 pentosuria 11.9
20 aminoacylase 1 deficiency 11.9
21 megaloblastic anemia 11.9
22 3-methylglutaconic aciduria, type i 11.9
23 inborn amino acid metabolism disorder 11.9
24 beta-ureidopropionase deficiency 11.8
25 leukotriene c4 synthase deficiency 11.7
26 homocystinuria-megaloblastic anemia, cble complementation type 11.7
27 megaloblastic anemia due to dihydrofolate reductase deficiency 11.7
28 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.7
29 alkaptonuria 11.6
30 galactokinase deficiency 11.6
31 sudden infant death syndrome 11.6
32 d-glyceric aciduria 11.6
33 glutathionuria 11.6
34 sarcosinemia 11.6
35 uridine-cytidineuria 11.6
36 tetrahydrobiopterin deficiency 11.6
37 pepck 1 deficiency 11.6
38 intrinsic factor deficiency 11.5
39 megaloblastic anemia 1 11.5
40 congenital intrinsic factor deficiency 11.5
41 methionine adenosyltransferase i/iii deficiency 11.4
42 homocystinuria-megaloblastic anemia, cblg complementation type 11.4
43 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.4
44 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 11.4
45 niemann-pick disease 11.4
46 andersen cardiodysrhythmic periodic paralysis 11.3
47 acyl-coa dehydrogenase, short-chain, deficiency of 11.3
48 alpha-ketoglutarate dehydrogenase deficiency 11.3
49 glycogen storage disease iii 11.3
50 glycogen storage disease iv 11.3

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



Diseases related to Inherited Metabolic Disorder

Symptoms & Phenotypes for Inherited Metabolic Disorder

MGI Mouse Phenotypes related to Inherited Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 APOA1 APOB ATP7B CBSL CLN3 COG2
2 growth/size/body region MP:0005378 10.06 APOB ATP7B CBSL COG2 FECH GBA
3 integument MP:0010771 9.76 APOA1 ATP7B CBSL FECH GBA INS
4 liver/biliary system MP:0005370 9.73 APOA1 APOB ATP7B CBSL CLN3 FECH
5 mortality/aging MP:0010768 9.4 APOB ATP7B CBSL CLN3 FECH GBA

Drugs & Therapeutics for Inherited Metabolic Disorder

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

(show top 50) (show all 297)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 4 315-30-0 2094
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
4
Febuxostat Approved Phase 4 144060-53-7 134018
5
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
6
Budesonide Approved Phase 4 51333-22-3 63006 5281004
7 Antimetabolites Phase 4
8 Anti-Infective Agents Phase 4
9 Antirheumatic Agents Phase 4
10 Lipid Regulating Agents Phase 4
11 Hypolipidemic Agents Phase 4
12 Anticholesteremic Agents Phase 4
13 Free Radical Scavengers Phase 4
14 Anti-Bacterial Agents Phase 4
15 Clofibric Acid Phase 4 882-09-7
16 Anti-Inflammatory Agents Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Autonomic Agents Phase 4
19 Hormones Phase 4
20 Hormone Antagonists Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
22 Respiratory System Agents Phase 4
23 Anti-Asthmatic Agents Phase 4
24 Bronchodilator Agents Phase 4
25 glucocorticoids Phase 4
26
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
27
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
28
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
29
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
30
Mipomersen Approved, Investigational Phase 3 1000120-98-8
31
Metronidazole Approved Phase 3 443-48-1 4173
32
Nitisinone Approved, Investigational Phase 3 104206-65-7 115355
33
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
34
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
35
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
36
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
37
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 23925 27284
38
Vigabatrin Approved Phase 3 60643-86-9, 68506-86-5 5665
39
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
40
Ezetimibe Approved Phase 3 163222-33-1 150311
41
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
42
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
43
Cobalamin Experimental Phase 3 13408-78-1 6857388
44
Uric acid Investigational Phase 3 69-93-2 1175
45
Tetrathiomolybdate Investigational Phase 3 16330-92-0
46
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
47 carnitine Phase 3
48 Vitamin B 12 Phase 3
49 Vitamin B12 Phase 3
50 Analgesics Phase 3

Interventional clinical trials:

(show top 50) (show all 278)
# 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 A Novel Assay for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites: Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion in APRT Deficient Patients Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
4 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
5 A Placebo Controlled Single Centre Double Blind Randomised Trial to Investigate the Efficacy of Rifaximin Versus Placebo in Improving Systemic Inflammation and Neutrophil Malfunction in Patients With Cirrhosis and Chronic Hepatic Encephalopathy Completed NCT02019784 Phase 4 Rifaximin-α;Placebo Oral Tablet
6 Diesel Exhaust Induces Glucocorticoid Resistance Recruiting NCT03615742 Phase 4 Budesonide
7 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
8 Clinical Trial on the Effect of Bezafibrate in the Muscular Form of Carnitine Palmitoyltransferase 2 Deficiency Unknown status NCT00336167 Phase 3 bezafibrate (drug)
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 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
19 Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis Completed NCT00004490 Phase 3 sodium dichloroacetate
20 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
21 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
22 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
23 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
24 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
25 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
26 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
27 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
28 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)
29 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
30 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
31 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
32 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
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) Active, not recruiting NCT02960217 Phase 3 UX007;Placebo
34 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
35 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
36 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
37 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
38 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
39 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Unknown status NCT02014883 Phase 2 GLUT1 DS
40 A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion (NTUH-AADC-011) Unknown status NCT02926066 Phase 2 AAV2-hAADC
41 The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V) Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
42 A Controlled N-of-1 Before-and-after Study to Determine Safety and Efficacy Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Unknown status NCT02000960 Phase 2 Triheptanoin
43 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
44 Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity Completed NCT00004658 Phase 2 ribose;thymidine;uridine
45 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
46 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
47 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
48 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
49 Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Completed NCT00004493 Phase 2 sodium dichloroacetate
50 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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:

41
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 3188)
# Title Authors PMID Year
1
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology. 38
31402115 2019
2
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. 38
30994193 2019
3
The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target. 38
31228515 2019
4
Continuous Renal Replacement Therapy for Treatment of Severe Attacks of Inborn Errors of Metabolism. 38
31402993 2019
5
Metabolic Disorders and Anesthesia. 38
31406490 2019
6
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study. 38
31077853 2019
7
Thyroid hormone resistance from newborns to adults: a Spanish experience. 38
30707410 2019
8
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. 38
30964822 2019
9
Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future. 38
31405045 2019
10
Hyperammonemic Encephalopathy due to Ureaplasma parvum Infection in an Immunocompromised Child. 38
31324704 2019
11
Sitosterolemia-10 years observation in two sisters. 38
31392106 2019
12
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 38
31416725 2019
13
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. 38
31289964 2019
14
Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy. 38
31079842 2019
15
Challenges in treating Pompe disease: an industry perspective. 38
31392203 2019
16
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq. 38
31360317 2019
17
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature. 38
29620587 2019
18
Hyperammonemia, the Last Indication of High-Volume Hemodiafiltration in Adult and Children: A Structured Review. 38
31291618 2019
19
Impact of ABO blood group incompatibility on the outcomes of allogeneic hematopoietic stem cell transplantation. 38
31311753 2019
20
The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease. 38
31272606 2019
21
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. 38
30950220 2019
22
Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy. 38
31294795 2019
23
Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. 38
31303505 2019
24
What is the role of next generation sequencing in status epilepticus? 38
31300382 2019
25
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment. 38
31358473 2019
26
Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments. 38
31209777 2019
27
Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism. 38
30895385 2019
28
Association between mucopolysaccharidosis Type VII and hydrops fetalis. 38
31180609 2019
29
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. 38
30912303 2019
30
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. 38
31196016 2019
31
Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases. 38
31005404 2019
32
Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride. 38
31248636 2019
33
Clinical Spectrum of Inherited Disorders of Metabolism. 38
31222555 2019
34
The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders. 38
30723298 2019
35
Inborn Errors of Metabolism and the Gastrointestinal Tract. 38
31046970 2019
36
The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Inherited Diseases Is Influenced by HLA Match, Year of Transplantation, and Immunized Female Donor. 38
30300286 2019
37
The effectiveness of correcting abnormal metabolic profiles. 38
31222759 2019
38
Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I. 38
31211405 2019
39
Feeding modality is a barrier to adequate protein provision in children receiving continuous renal replacement therapy (CRRT). 38
30843114 2019
40
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing. 38
30968598 2019
41
Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress. 38
31279622 2019
42
Progress and challenges in development of new therapies for urea cycle disorders. 38
31227828 2019
43
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid. 38
30926434 2019
44
No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia. 38
30825650 2019
45
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. 38
28971744 2019
46
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders. 38
30928149 2019
47
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid. 38
31146325 2019
48
Oral manifestation and root canal therapy of the patient with mucopolysaccharidosis. 38
31149612 2019
49
Guidance for assessment of erythroderma in neonates and infants for the pediatric immunologist. 38
30702169 2019
50
Movement Disorders in Treatable Inborn Errors of Metabolism. 38
30557456 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
13.68 SREBF1 NAGS MTHFR INS GPT GLA
2
Show member pathways
11.95 NAGS MTHFR GPT CBSL
3 11.67 GLA GBA CLN3
4
Show member pathways
11.36 SERPINA3 MTHFR INS APOB APOA1
5
Show member pathways
10.79 SERPINA1 INS APOB
6 10.57 INS GPT
7 10 HFE HAMP

GO Terms for Inherited Metabolic Disorder

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 SREBF1 SERPINA1 MMD GLA COG2 CLN3
2 endoplasmic reticulum lumen GO:0005788 9.76 SERPINA1 INS APOB APOA1
3 secretory granule lumen GO:0034774 9.69 SERPINA3 INS APOA1
4 early endosome GO:0005769 9.62 HFE CLN3 APOB APOA1
5 lysosomal lumen GO:0043202 9.54 GLA GBA APOB
6 very-low-density lipoprotein particle GO:0034361 9.52 APOB APOA1
7 endosome lumen GO:0031904 9.49 INS APOB
8 endocytic vesicle lumen GO:0071682 9.48 APOB APOA1
9 low-density lipoprotein particle GO:0034362 9.43 APOB APOA1
10 Golgi membrane GO:0000139 9.43 SREBF1 SERPINA1 INS COG2 CLN3 ATP7B
11 chylomicron GO:0042627 9.4 APOB APOA1
12 extracellular space GO:0005615 9.28 SERPINA3 SERPINA1 INS HFE HAMP GPT
13 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.84 SREBF1 MTHFR FECH APOA1
2 cellular response to tumor necrosis factor GO:0071356 9.73 HAMP GBA APOB
3 platelet degranulation GO:0002576 9.72 SERPINA3 SERPINA1 APOA1
4 cellular protein metabolic process GO:0044267 9.71 SERPINA1 INS APOB APOA1
5 cholesterol metabolic process GO:0008203 9.67 SREBF1 APOB APOA1
6 response to iron ion GO:0010039 9.52 HFE HAMP
7 positive regulation of lipid biosynthetic process GO:0046889 9.51 INS APOA1
8 chylomicron assembly GO:0034378 9.48 APOB APOA1
9 positive regulation of peptide hormone secretion GO:0090277 9.46 INS HFE
10 multicellular organismal iron ion homeostasis GO:0060586 9.43 HFE HAMP
11 homocysteine metabolic process GO:0050667 9.37 MTHFR CBSL
12 chylomicron remodeling GO:0034371 9.32 APOB APOA1
13 lipoprotein biosynthetic process GO:0042158 9.26 APOB APOA1
14 steroid metabolic process GO:0008202 9.26 SREBF1 CYP21A2 APOB APOA1
15 response to iron ion starvation GO:1990641 9.16 HFE HAMP
16 acute-phase response GO:0006953 9.02 SERPINA3 SERPINA1 INS HFE HAMP

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol transporter activity GO:0017127 8.62 APOB APOA1

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 HGMD
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