MCID: INH020
MIFTS: 45

Inherited Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Inherited Metabolic Disorder

MalaCards integrated aliases for Inherited Metabolic Disorder:

Name: Inherited Metabolic Disorder 12 14
Inborn Errors of Metabolism 12 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 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 steroid inherited metabolic disorder and aminoacylase 1 deficiency. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Galactose metabolism. The drugs Iron and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and liver, 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 97)
id Related Disease Score Top Affiliating Genes
1 steroid inherited metabolic disorder 12.0
2 aminoacylase 1 deficiency 11.5
3 pentosuria 11.4
4 adenine phosphoribosyltransferase deficiency 11.1
5 dermatoosteolysis, kirghizian type 11.0 HFE TF
6 hyperlipoproteinemia type iv 10.9 APOB COG2 INS
7 candidal paronychia 10.9 APOB COG2 SERPINA1
8 slate pneumoconiosis 10.9 HFE SERPINA1 TF
9 dysostosis 10.9 GBA GBA3 GLA
10 episcleritis periodica fugax 10.9 HAMP HFE TF
11 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.9 HAMP HFE TF
12 intestinal tuberculosis 10.9 FECH HFE TF
13 acute apical periodontitis 10.9 APOB COG2 INS
14 spinocerebellar ataxia 8 10.9 ATP7B HFE TF
15 pontocerebellar hypoplasia 10.9 APOB INS UGT1A1
16 glycogen storage disease ixa 10.9 HAMP HFE
17 status asthmaticus 10.8 GAA MTHFR SERPINA1
18 blind hypotensive eye 10.8 HAMP HFE TF
19 skin squamous cell carcinoma 10.8 APOB COG2 INS
20 labyrinthine unilateral reactive loss 10.8 INS TF
21 mucopolysaccharidosis ih/s 10.8 GAA GLA IDUA
22 hypertrichosis 10.8 APOB COG2 INS
23 sickle cell anemia 10.8 HFE TF UGT1A1
24 mediastinum leiomyoma 10.8 HAMP MTHFR TF
25 survival motor neuron spinal muscular atrophy 10.8 APOB COG2 INS
26 tinf2-related dyskeratosis congenita 10.8 HAMP HFE INS TF
27 porphyria cutanea tarda 10.8 FECH HAMP HFE TF
28 narcolepsy 10.8 ATP7B HAMP HFE TF
29 cataract, autosomal dominant congenital 4 10.8 APOB INS
30 tuberculum sellae meningioma 10.8 ATP7B INS SERPINA1
31 endometrial adenocarcinoma 10.7 HAMP HFE TF UGT1A1
32 peripheral artery disease 10.7 APOB COG2 INS MTHFR
33 timothy syndrome type 2 10.7 HFE TF
34 lymphoblastic lymphoma 10.7 FECH HFE INS SERPINA1 TF
35 tongue squamous cell carcinoma 10.7 HFE TF UGT1A1
36 myelophthisic anemia 10.7 APOB COG2 INS
37 macular degeneration, age-related, 12 10.7 APOB COG2 INS MTHFR
38 lysosomal storage disease 10.7
39 lipid storage disease 10.7
40 nasu-hakola disease 10.7 ATP7B HAMP HFE SERPINA1 TF
41 harp syndrome 10.6 HFE TF
42 malignant type ab thymoma 10.6 APOB INS MTHFR
43 malignant glioma 10.6 CLN3 GAA GBA GLA IDUA
44 myocardial infarction 10.5 APOB COG2 HFE INS MTHFR
45 uterine corpus cancer 10.5 CLN3 ENSG00000261832 GBA GBA3 GLA INS
46 hmg-coa synthase-2 deficiency 10.5
47 pyruvate kinase deficiency 10.5
48 glutaric acidemia iic 10.5
49 aromatic l-amino acid decarboxylase deficiency 10.5
50 farber lipogranulomatosis 10.5

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 10.07 APOB ATP7B COG2 FECH GAA GBA
2 behavior/neurological MP:0005386 10.02 FECH GAA GBA GLA HFE IDUA
3 homeostasis/metabolism MP:0005376 10 TF APOB ATP7B CLN3 COG2 FECH
4 liver/biliary system MP:0005370 9.61 APOB ATP7B CLN3 FECH GBA GLA
5 mortality/aging MP:0010768 9.4 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 250)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 1,Phase 2 7439-89-6 23925
2
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
4
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60-23-1 6058
5
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
6 Anti-Infective Agents Phase 4,Phase 2,Phase 1
7 Micronutrients Phase 4,Phase 3,Phase 2
8 Trace Elements Phase 4,Phase 3,Phase 2
9 Bone Density Conservation Agents Phase 4,Phase 1
10 4-phenylbutyric acid Phase 4,Phase 2
11 calcium heparin Phase 4
12 Hypoglycemic Agents Phase 4,Phase 2,Phase 1
13 insulin Phase 4
14 Insulin, Globin Zinc Phase 4
15 Lactoferrin Phase 4
16 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
17 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Iron Supplement Nutraceutical Phase 4
19
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
20
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
21
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
23
Ezetimibe Approved Phase 3 163222-33-1 150311
24
Deferasirox Approved, Investigational Phase 3,Phase 1,Phase 2 201530-41-8 5493381
25
Deferiprone Approved Phase 3,Phase 1,Phase 2 30652-11-0 2972
26
Nitisinone Approved, Investigational Phase 3,Phase 1 104206-65-7 115355
27
Levonorgestrel Approved, Investigational Phase 3,Phase 2 797-63-7, 17489-40-6 13109
28
Loperamide Approved Phase 3 53179-11-6 3955
29
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
30
Curcumin Investigational Phase 3 458-37-7 969516
31 Antirheumatic Agents Phase 2, Phase 3, Phase 1
32 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
33 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
34 Alkylating Agents Phase 2, Phase 3
35 Antilymphocyte Serum Phase 2, Phase 3
36 Methylprednisolone acetate Phase 2, Phase 3
37 Methylprednisolone Hemisuccinate Phase 2, Phase 3
38 Prednisolone acetate Phase 2, Phase 3
39 Prednisolone hemisuccinate Phase 2, Phase 3
40 Prednisolone phosphate Phase 2, Phase 3
41 Anticholesteremic Agents Phase 3,Phase 1,Phase 2
42 Antimetabolites Phase 3,Phase 2,Phase 1
43 Gamma-sitosterol Phase 3
44 Hypolipidemic Agents Phase 3,Phase 1,Phase 2
45 Lipid Regulating Agents Phase 3,Phase 1,Phase 2
46 Chelating Agents Phase 3,Phase 1,Phase 2
47 Iron Chelating Agents Phase 3,Phase 1,Phase 2
48 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
49 Analgesics Phase 3,Phase 2,Phase 1
50 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 199)

id Name Status NCT ID Phase Drugs
1 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
2 Teriparatide Treatment in Patients With Inherited Osteoporosis Completed NCT01360424 Phase 4 Teriparatide
3 Mechanism of Fatty Acid-induced Impairment of Glucose-simulated Insulin Secretion - Effect of Buphenyl Completed NCT00533559 Phase 4 sodium phenylbutyrate;Placebo
4 Bovine Lactoferrin to Prevent and Cure Iron Deficiency and Iron Deficiency Anemia in Complicated Pregnancies Completed NCT01221844 Phase 4 FerroGrad by Abbott
5 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
6 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
7 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
8 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
9 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate
10 Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) Completed NCT01197378 Phase 3 Cysteamine Bitartrate Delayed-release Capsules (RP103)
11 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
12 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
13 Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
14 Efficacy/Safety Study of Deferiprone Compared to Deferasirox in Paediatric Patients Completed NCT01825512 Phase 3 Deferiprone;Deferasirox
15 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
16 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
17 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
18 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4;normal saline
19 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Recruiting NCT02334748 Phase 3 canakinumab
20 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3 Loperamide
21 Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers Active, not recruiting NCT02059291 Phase 3 Canakinumab;Placebo
22 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Not yet recruiting NCT03293524 Phase 3 Placebo
23 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
24 Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome Terminated NCT00566644 Phase 3
25 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
26 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
27 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
28 Phase IIa Study of Fomepizole for Acetaldehyde Toxicity After Ethanol Exposure in Subjects With Altered Ethanol Metabolism Completed NCT00661141 Phase 2 Antizol;Placebo
29 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
30 Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Other Hematologic or Metabolic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
31 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
32 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2 Cysteamine Bitartrate Delayed-release Capsules
33 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
34 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
35 Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
36 Pilot Study Of Unrelated UCB Transplant for Non-Malignant Hematologic Conditions Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
37 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
38 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
39 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
40 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
41 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
42 Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
43 Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis Completed NCT00001213 Phase 2 Cysteamine
44 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
45 Pharmacokinetic Study of Deferiprone in Paediatric Patients Completed NCT01740713 Phase 2 Deferiprone, dose level 1;Deferiprone, dose level 2;Deferiprone, dose level 3
46 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
47 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
48 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315 Phase 2
49 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
50 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan

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
Colon, Bone, Liver, Testes, Bone Marrow, Eye, Breast

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
Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future. ( 23947109 )
2013
4
Developmental and psychiatric presentations of inherited metabolic disorders. ( 23419468 )
2013
5
Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. ( 22168925 )
2013
6
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders. ( 24149831 )
2013
7
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
8
Insurance coverage of medical foods for treatment of inherited metabolic disorders. ( 23598714 )
2013
9
Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects. ( 24085555 )
2013
10
Transplantation for inherited metabolic disorders of the liver. ( 23498779 )
2013
11
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ( 22475884 )
2012
12
Home enteral tube feeding in children with inherited metabolic disorders: a review of long-term carer knowledge and technique. ( 22958195 )
2012
13
Adherence issues in inherited metabolic disorders treated by low natural protein diets. ( 23208158 )
2012
14
Epilepsy in inherited metabolic disorders: a pediatric series. ( 22992533 )
2012
15
Feeding difficulties in children with inherited metabolic disorders: a pilot study. ( 22320889 )
2012
16
Neuroimaging of inherited metabolic disorders producing seizures. ( 21463921 )
2011
17
Accuracy of home enteral feed preparation for children with inherited metabolic disorders. ( 21114554 )
2011
18
Stem cell transplantation in inherited metabolic disorders. ( 22160047 )
2011
19
Gene transfer for inherited metabolic disorders of the liver: immunological challenges. ( 21774775 )
2011
20
Pharmacokinetics of clofarabine in patients with high-risk inherited metabolic disorders undergoing brain-sparing hematopoietic cell transplantation. ( 20525919 )
2011
21
Should children with inherited metabolic disorders receive varicella vaccination? ( 19846994 )
2011
22
Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders? ( 21291466 )
2011
23
Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. ( 20307715 )
2010
24
Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ( 20065125 )
2010
25
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. ( 20739751 )
2010
26
Liver transplantation for inherited metabolic disorders of the liver. ( 20489626 )
2010
27
Errors in emergency feeds in inherited metabolic disorders: a randomised controlled trial of three preparation methods. ( 20522472 )
2010
28
Inherited metabolic disorders involving the eye: a clinico-biochemical perspective. ( 19798114 )
2010
29
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
30
Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. ( 19395404 )
2010
31
Early onset epilepsy and inherited metabolic disorders: diagnosis and management. ( 20481269 )
2010
32
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
33
The impact of visual media to encourage low protein cooking in inherited metabolic disorders. ( 19344377 )
2009
34
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. ( 19016343 )
2008
35
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy. ( 18217108 )
2008
36
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. ( 18252165 )
2008
37
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
38
Epilepsy in inherited metabolic disorders. ( 19225367 )
2008
39
Stem cell therapy for inherited metabolic disorders of the liver. ( 18375039 )
2008
40
Inherited metabolic disorders and cerebral infarction. ( 18986243 )
2008
41
Spectrum of inherited metabolic disorders in Malaysia. ( 19904455 )
2008
42
Home enteral tube feeding in patients with inherited metabolic disorders: safety issues. ( 17845378 )
2007
43
Capillary electrophoretic method for nucleotide analysis in cells: application on inherited metabolic disorders. ( 17203505 )
2007
44
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
45
Study of inherited metabolic disorders in Singapore - 13 years experience. ( 17160197 )
2006
46
Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. ( 16563365 )
2006
47
Hepatitic inherited metabolic disorders. ( 17355091 )
2006
48
First-trimester fetal nuchal translucency and inherited metabolic disorders. ( 16378318 )
2006
49
External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. ( 17102891 )
2006
50
Pregnancy issues in inherited metabolic disorders. ( 16763893 )
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

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 late endosome GO:0005770 9.63 ATP7B CLN3 TF
4 early endosome GO:0005769 9.56 APOB CLN3 HFE TF
5 endosome lumen GO:0031904 9.37 APOB INS
6 lysosome GO:0005764 9.35 CLN3 GAA GBA GLA IDUA
7 basal part of cell GO:0045178 9.32 HFE TF
8 HFE-transferrin receptor complex GO:1990712 9.16 HFE TF
9 lysosomal lumen GO:0043202 9.02 APOB GAA GBA GLA IDUA

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.81 APOB INS SERPINA1 TF
2 cellular response to tumor necrosis factor GO:0071356 9.75 APOB GBA HAMP
3 metabolic process GO:0008152 9.73 GAA GBA GLA IDUA MTHFR UGT1A1
4 response to ethanol GO:0045471 9.72 FECH HAMP UGT1A1
5 steroid metabolic process GO:0008202 9.71 APOB CYP21A2 UGT1A1
6 negative regulation of catalytic activity GO:0043086 9.7 CLN3 TF UGT1A1
7 cellular iron ion homeostasis GO:0006879 9.63 HAMP HFE TF
8 response to iron ion GO:0010039 9.57 HAMP HFE
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.56 HFE TF
10 carbohydrate metabolic process GO:0005975 9.55 GAA GBA3 GLA IDUA INS
11 glycosphingolipid metabolic process GO:0006687 9.54 GBA GBA3 GLA
12 positive regulation of peptide hormone secretion GO:0090277 9.49 HFE INS
13 multicellular organismal iron ion homeostasis GO:0060586 9.48 HAMP HFE
14 cellular response to iron ion GO:0071281 9.43 HFE TF
15 glycoside catabolic process GO:0016139 9.4 GBA3 GLA
16 glycosylceramide catabolic process GO:0046477 9.32 GBA3 GLA
17 acute-phase response GO:0006953 9.02 HAMP HFE INS SERPINA1 UGT1A1
18 response to iron ion starvation GO:1990641 8.96 HAMP HFE

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

id Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.32 FECH TF
2 transferrin receptor binding GO:1990459 9.26 HFE TF
3 glucosylceramidase activity GO:0004348 9.16 GBA GBA3
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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