MCID: INH020
MIFTS: 49

Inherited Metabolic Disorder malady

Categories: Metabolic diseases

Aliases & Classifications for Inherited Metabolic Disorder

Aliases & Descriptions for Inherited Metabolic Disorder:

Name: Inherited Metabolic Disorder 12 14
Inborn Errors of Metabolism 12 14 69
Metabolic Hereditary Disorder 12
Inborn Metabolism Disorder 12
Metabolism, Inborn Errors 42

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 42 D008661
NCIt 47 C34816
SNOMED-CT 64 363205007 86095007
UMLS 69 C0025521

Summaries for Inherited Metabolic Disorder

Disease Ontology : 12 A disease of metabolism that has _material_basis_in 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 pyrimidine metabolic disorder and steroid inherited metabolic disorder. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Folate Metabolism. The drugs Fenofibrate and Ezetimibe have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are growth/size/body region and behavior/neurological

Related Diseases for Inherited Metabolic Disorder

Diseases in the Acquired Metabolic Disease family:

Inherited Metabolic Disorder

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

(show top 50) (show all 99)
id Related Disease Score Top Affiliating Genes
1 pyrimidine metabolic disorder 31.2 APOB COG2 INS MTHFR
2 steroid inherited metabolic disorder 12.0
3 megaloblastic anemia 11.4
4 lysosomal storage disease 10.7
5 lipid storage disease 10.7
6 hmg-coa synthase-2 deficiency 10.5
7 gaucher disease, type ii 10.5
8 pyruvate kinase deficiency 10.5
9 congenital disorder of glycosylation, type in 10.5
10 glutaric acidemia iic 10.5
11 farber lipogranulomatosis 10.5
12 fructose-1,6-bisphosphatase deficiency 10.5
13 krabbe disease 10.5
14 n-acetylglutamate synthase deficiency 10.5
15 glycogen storage disease ii 10.5
16 holocarboxylase synthetase deficiency 10.5
17 glycerol kinase deficiency 10.5
18 glutamate formiminotransferase deficiency 10.5
19 cerebellar hypoplasia 10.5
20 niemann-pick disease 10.5
21 congenital bile acid synthesis defect 10.5
22 vitamin metabolic disorder 10.5
23 congenital adrenal hyperplasia 10.5
24 porphyria 10.5
25 gaucher's disease 10.5
26 plasma protein metabolism disease 10.5
27 bilirubin metabolic disorder 10.5
28 carbohydrate metabolic disorder 10.5
29 lipid metabolism disorder 10.5
30 purine-pyrimidine metabolic disorder 10.5
31 mitochondrial metabolism disease 10.5
32 metal metabolism disorder 10.5
33 peroxisomal disease 10.5
34 amino acid metabolic disorder 10.5
35 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.5
36 dermatoleukodystrophy 10.4 HFE TF
37 myh7-related myosin storage myopathy 10.4 CBS MTHFR
38 kaolin pneumoconiosis 10.4 HFE SERPINA1 TF
39 episcleritis periodica fugax 10.4 HAMP HFE TF
40 ltbp4-related cutis laxa 10.4 HAMP HFE TFR2
41 hyperlipoproteinemia type iv 10.4 APOB COG2 INS
42 candidal paronychia 10.4 APOB COG2 SERPINA1
43 post-thrombotic syndrome 10.4 HFE TF TFR2
44 glycogen storage disease ixa 10.4 HAMP HFE TFR2
45 myopia 23, autosomal recessive 10.4 GAA GLA IDUA
46 primary pigmented nodular adrenocortical disease 10.3 APOB INS UGT1A1
47 iridocyclitis 10.3 GAA MTHFR SERPINA1
48 bleeding disorder, east texas type 10.3 APOB COG2 INS
49 intestinal tuberculosis 10.3 FECH HFE TF
50 cervix small cell carcinoma 10.3 APOB CBS INS MTHFR

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 FECH GAA GBA GLA HFE IDUA
2 behavior/neurological MP:0005386 10.07 ATP7B CLN3 FECH GAA GBA GLA
3 homeostasis/metabolism MP:0005376 10.03 APOB ATP7B CLN3 COG2 FECH GAA
4 hematopoietic system MP:0005397 9.96 ATP7B CLN3 COG2 FECH GBA HFE
5 immune system MP:0005387 9.65 IDUA INS TFR2 APOB ATP7B CLN3
6 liver/biliary system MP:0005370 9.32 APOB ATP7B CLN3 FECH GBA GLA

Drugs & Therapeutics for Inherited Metabolic Disorder

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

(show top 50) (show all 752)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339
2
Ezetimibe Approved Phase 4,Phase 3,Phase 2 163222-33-1 150311
3
Bezafibrate Approved Phase 4,Phase 3,Phase 2 41859-67-0 39042
4
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
5
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1 50-78-2 2244
6
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1 52-53-9 2520
7
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
8
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
9
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
10
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
11
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
13
Propylthiouracil Approved Phase 4 51-52-5 657298
14
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60-23-1 6058
15
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
16
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
17
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
18
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
19
Zinc Approved Phase 4,Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
20
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
21
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
22
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
23
Methotrexate Approved Phase 4,Phase 2,Phase 3,Phase 1 1959-05-2, 59-05-2 126941
24
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53-86-1 3715
25
Diclofenac Approved, Vet_approved Phase 4,Phase 2 15307-86-5 3033
26
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
27
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
28
Enalapril Approved, Vet_approved Phase 4,Phase 2 75847-73-3 5362032 40466924
29
Enalaprilat Approved Phase 4,Phase 2 76420-72-9 6917719
30
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 2,Phase 3 58-93-5 3639
31
Deferoxamine Approved, Investigational Phase 4,Phase 3,Phase 2 70-51-9 2973
32
Glycerol Approved, Experimental Phase 4,Phase 3,Phase 2 56-81-5 753
33
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1 75614-87-8, 51-45-6 774
34
Allopurinol Approved Phase 4,Phase 3,Phase 2,Phase 1 315-30-0 2094
35
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
36
Primaquine Approved Phase 4,Phase 1 90-34-6 4908
37
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22204-53-1 1302 156391
38
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
39
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
40
Vancomycin Approved Phase 4 1404-90-6 441141 14969
41
Dapsone Approved, Investigational Phase 4 80-08-0 2955
42 Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
43
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
44
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
45
Febuxostat Approved Phase 4,Phase 3,Phase 1,Phase 2 144060-53-7 134018
46
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
47
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
48
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 201530-41-8 5493381
49
Insulin Glargine Approved Phase 4 160337-95-1
50
Insulin-glulisine Approved Phase 4 207748-29-6

Interventional clinical trials:

(show top 50) (show all 1824)
id Name Status NCT ID Phase
1 Comparison of High-Dose Rosuvastatin Versus Low Statin Dose Plus Fenofibrate Versus Low Statin Dose Plus Niacin in the Treatment of Mixed Hyperlipidemia Unknown status NCT01010516 Phase 4
2 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
3 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
5 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
6 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4
7 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4
8 Scripps Evaluation of Antiplatelet Therapies for Intermediate Duration With the Endeavor Stent (Seaside) Unknown status NCT00963781 Phase 4
9 rAd-p53 Gene Therapy for Advanced Oral and Maxillofacial Malignant Tumors Unknown status NCT00902083 Phase 4
10 p53 Gene Therapy for Head and Neck Malignant Tumors in Advanced Stage Unknown status NCT00894153 Phase 4
11 rAd-p53 Gene Therapy for Advanced Malignant Thyroid Tumors Unknown status NCT00902122 Phase 4
12 Study of Zinc for Wilson Disease Completed NCT00004338 Phase 4
13 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4
14 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
15 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
16 Randomised Controlled Trial of Mechanistic Effects of Rifaximin in Cirrhosis and Chronic Hepatic Encephalopathy Completed NCT02019784 Phase 4
17 Efficacy Study of Extended-Release Niacin/Lovastatin Versus Usual Care Completed NCT00345657 Phase 4
18 Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol Completed NCT00754039 Phase 4
19 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4
20 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4
21 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
22 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4
23 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
24 Short-term Effect of Extended-release Niacin on Endothelial Function. Completed NCT01942291 Phase 4
25 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
26 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
27 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
28 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4
29 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4
30 Effects Comparison of A1 and A2 Milk on Gastrointestinal Physiology, Symptoms and Cognitive Behavior Completed NCT02406469 Phase 4
31 A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication Completed NCT00655265 Phase 4
32 Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy Completed NCT00916643 Phase 4
33 Incidence of Lactose Intolerance Among Self-reported Lactose Intolerant People Completed NCT02878876 Phase 4
34 Evaluation of LacTEST for the Diagnosis of Hypolactasia in Adults and Elderly Patients Presenting With Clinical Symptoms of Lactose Intolerance Completed NCT02636413 Phase 4
35 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
36 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4
37 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
38 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
39 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
40 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
41 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
42 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4
43 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
44 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
45 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
46 Exercise Versus Niacin in Patients With Coronary Artery Disease (CAD) and Low High-Density Lipoproteins (HDL) Completed NCT00298909 Phase 4
47 Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM Completed NCT01529099 Phase 4
48 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4
49 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
50 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

39
Liver, Testes, Bone, Skin, Eye, Breast, Brain

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 68)
id Title Authors Year
1
Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience. ( 27564695 )
2016
2
Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience. ( 25902754 )
2015
3
Outcomes of haematopoietic stem cell transplantation for inherited metabolic disorders: a report from the Australian and New Zealand Children's Haematology Oncology Group and the Australasian Bone Marrow Transplant Recipient Registry. ( 23802616 )
2013
4
Developmental and psychiatric presentations of inherited metabolic disorders. ( 23419468 )
2013
5
Transplantation for inherited metabolic disorders of the liver. ( 23498779 )
2013
6
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders. ( 24149831 )
2013
7
Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects. ( 24085555 )
2013
8
Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future. ( 23947109 )
2013
9
Insurance coverage of medical foods for treatment of inherited metabolic disorders. ( 23598714 )
2013
10
Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. ( 22168925 )
2013
11
Adherence issues in inherited metabolic disorders treated by low natural protein diets. ( 23208158 )
2012
12
Feeding difficulties in children with inherited metabolic disorders: a pilot study. ( 22320889 )
2012
13
Epilepsy in inherited metabolic disorders: a pediatric series. ( 22992533 )
2012
14
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ( 22475884 )
2012
15
Home enteral tube feeding in children with inherited metabolic disorders: a review of long-term carer knowledge and technique. ( 22958195 )
2012
16
Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders? ( 21291466 )
2011
17
Stem cell transplantation in inherited metabolic disorders. ( 22160047 )
2011
18
Accuracy of home enteral feed preparation for children with inherited metabolic disorders. ( 21114554 )
2011
19
Should children with inherited metabolic disorders receive varicella vaccination? ( 19846994 )
2011
20
Pharmacokinetics of clofarabine in patients with high-risk inherited metabolic disorders undergoing brain-sparing hematopoietic cell transplantation. ( 20525919 )
2011
21
Gene transfer for inherited metabolic disorders of the liver: immunological challenges. ( 21774775 )
2011
22
Neuroimaging of inherited metabolic disorders producing seizures. ( 21463921 )
2011
23
Inherited metabolic disorders involving the eye: a clinico-biochemical perspective. ( 19798114 )
2010
24
Errors in emergency feeds in inherited metabolic disorders: a randomised controlled trial of three preparation methods. ( 20522472 )
2010
25
Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. ( 19395404 )
2010
26
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
27
Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ( 20065125 )
2010
28
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. ( 20739751 )
2010
29
Early onset epilepsy and inherited metabolic disorders: diagnosis and management. ( 20481269 )
2010
30
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy. ( 20961553 )
2010
31
Liver transplantation for inherited metabolic disorders of the liver. ( 20489626 )
2010
32
Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. ( 20307715 )
2010
33
The impact of visual media to encourage low protein cooking in inherited metabolic disorders. ( 19344377 )
2009
34
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy. ( 18217108 )
2008
35
Epilepsy in inherited metabolic disorders. ( 19225367 )
2008
36
Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. ( 18587012 )
2008
37
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. ( 18252165 )
2008
38
Inherited metabolic disorders and cerebral infarction. ( 18986243 )
2008
39
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. ( 19016343 )
2008
40
Spectrum of inherited metabolic disorders in Malaysia. ( 19904455 )
2008
41
Stem cell therapy for inherited metabolic disorders of the liver. ( 18375039 )
2008
42
The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. ( 17391418 )
2007
43
Home enteral tube feeding in patients with inherited metabolic disorders: safety issues. ( 17845378 )
2007
44
Capillary electrophoretic method for nucleotide analysis in cells: application on inherited metabolic disorders. ( 17203505 )
2007
45
The incidence of inherited metabolic disorders in the West Midlands, UK. ( 16690699 )
2006
46
Pregnancy issues in inherited metabolic disorders. ( 16763893 )
2006
47
Hepatitic inherited metabolic disorders. ( 17355091 )
2006
48
Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. ( 16563365 )
2006
49
First-trimester fetal nuchal translucency and inherited metabolic disorders. ( 16378318 )
2006
50
Study of inherited metabolic disorders in Singapore - 13 years experience. ( 17160197 )
2006

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 APOB CBS CYP21A2 FECH GAA GBA
2
Show member pathways
12 APOB CBS INS MTHFR
3 11.11 CLN3 GAA GBA GLA IDUA
4
Show member pathways
10.99 APOB INS SERPINA1
5
Show member pathways
10.28 CBS MTHFR
6 10.21 HAMP TF TFR2
7 10.1 HAMP HFE

GO Terms for Inherited Metabolic Disorder

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

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.83 ATP7B CLN3 COG2 INS SERPINA1
2 endoplasmic reticulum lumen GO:0005788 9.71 APOB INS SERPINA1 TF
3 early endosome GO:0005769 9.56 APOB CLN3 HFE TF
4 lysosome GO:0005764 9.55 CLN3 GAA GBA GLA IDUA
5 basal part of cell GO:0045178 9.37 HFE TF
6 endosome lumen GO:0031904 9.32 APOB INS
7 HFE-transferrin receptor complex GO:1990712 9.13 HFE TF TFR2
8 lysosomal lumen GO:0043202 9.02 APOB GAA GBA GLA IDUA
9 extracellular space GO:0005615 10 APOB GBA HAMP HFE INS SERPINA1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.88 GAA GBA GLA IDUA INS
2 cellular protein metabolic process GO:0044267 9.85 APOB INS SERPINA1 TF
3 response to ethanol GO:0045471 9.77 FECH HAMP UGT1A1
4 cellular response to tumor necrosis factor GO:0071356 9.76 APOB GBA HAMP
5 steroid metabolic process GO:0008202 9.75 APOB CYP21A2 UGT1A1
6 negative regulation of catalytic activity GO:0043086 9.73 CLN3 TF UGT1A1
7 iron ion homeostasis GO:0055072 9.69 HFE TF TFR2
8 transferrin transport GO:0033572 9.67 HFE TF TFR2
9 cellular iron ion homeostasis GO:0006879 9.62 HAMP HFE TF TFR2
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.59 HFE TF
11 iron ion transport GO:0006826 9.57 TF TFR2
12 metabolic process GO:0008152 9.56 CBS GAA GBA GLA IDUA MTHFR
13 multicellular organismal iron ion homeostasis GO:0060586 9.54 HAMP HFE
14 response to iron ion GO:0010039 9.54 HAMP HFE TFR2
15 homocysteine metabolic process GO:0050667 9.52 CBS MTHFR
16 response to iron ion starvation GO:1990641 9.46 HAMP HFE
17 ferrous iron import into cell GO:0097460 9.43 TF TFR2
18 positive regulation of peptide hormone secretion GO:0090277 9.43 HFE INS TFR2
19 ferrous iron import across plasma membrane GO:0098707 9.4 TF TFR2
20 cellular response to iron ion GO:0071281 9.33 HFE TF TFR2
21 acute-phase response GO:0006953 9.1 HAMP HFE INS SERPINA1 TFR2 UGT1A1

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

id Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 9.32 HFE TFR2
2 transferrin receptor binding GO:1990459 9.26 HFE TF
3 modified amino acid binding GO:0072341 9.16 CBS MTHFR
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GAA GLA IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 GAA GBA GLA IDUA

Sources for Inherited Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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