MCID: INH020
MIFTS: 49

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
Inborn Error of Metabolism 72
Inborn Metabolic Disorder 72
Metabolism, Inborn Errors 41

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 41 D008661
NCIt 46 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 porphyria and lipid metabolism disorder. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Galactose metabolism. The drugs Ethanol and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 72 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

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 porphyria 31.8 FECH HFE TF
2 lipid metabolism disorder 31.8 APOB COG2 INS
3 metal metabolism disorder 31.8 ATP7B HAMP HFE TF
4 lysosomal storage disease 31.7 CLN3 GAA GBA GLA IDUA
5 lipid storage disease 31.7 CLN3 ENSG00000261832 GBA GBA3 GLA INS
6 liver disease 30.1 FECH HFE INS SERPINA1 TF
7 steroid inherited metabolic disorder 12.2
8 aminoacylase 1 deficiency 11.6
9 megaloblastic anemia 11.6
10 pentosuria 11.5
11 beta-ureidopropionase deficiency 11.5
12 megaloblastic anemia 1 11.4
13 iron overload in africa 10.7 HFE TF
14 prediabetes syndrome 10.6 APOB COG2 INS
15 cholesterol ester storage disease 10.6 APOB COG2 SERPINA1
16 hyperferritinemia with or without cataract 10.6 HFE TF
17 lipoid congenital adrenal hyperplasia 10.6
18 cerebellar hypoplasia 10.6
19 dopamine beta-hydroxylase deficiency, congenital 10.6
20 farber lipogranulomatosis 10.6
21 fructose-1,6-bisphosphatase deficiency 10.6
22 multiple acyl-coa dehydrogenase deficiency 10.6
23 n-acetylglutamate synthase deficiency 10.6
24 krabbe disease 10.6
25 holocarboxylase synthetase deficiency 10.6
26 pyruvate kinase deficiency of red cells 10.6
27 glycerol kinase deficiency 10.6
28 homocysteinemia 10.6
29 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 10.6
30 aromatic l-amino acid decarboxylase deficiency 10.6
31 niemann-pick disease 10.6
32 congenital bile acid synthesis defect 10.6
33 vitamin metabolic disorder 10.6
34 pyrimidine metabolic disorder 10.6
35 gaucher's disease 10.6
36 plasma protein metabolism disease 10.6
37 bilirubin metabolic disorder 10.6
38 carbohydrate metabolic disorder 10.6
39 purine-pyrimidine metabolic disorder 10.6
40 mitochondrial metabolism disease 10.6
41 peroxisomal disease 10.6
42 amino acid metabolic disorder 10.6
43 siderosis 10.6 HFE SERPINA1 TF
44 sphingolipidosis 10.6 GBA GBA3 GLA
45 coronary heart disease 1 10.6 APOB COG2 INS
46 hemosiderosis 10.6 HAMP HFE TF
47 atransferrinemia 10.6 HAMP HFE TF
48 familial hyperlipidemia 10.6 APOB COG2 INS
49 wilson disease 10.6 ATP7B HFE TF
50 carotid artery dissection 10.6 GAA MTHFR SERPINA1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 COG2 FECH GAA GBA GLA HFE
2 behavior/neurological MP:0005386 10.02 GLA HFE IDUA ATP7B CLN3 FECH
3 homeostasis/metabolism MP:0005376 10 APOB ATP7B CLN3 COG2 FECH GAA
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 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
3
Mycophenolic acid Approved Phase 2 24280-93-1 446541
4
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
5
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Mesna Approved, Investigational Phase 2 3375-50-6 598
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
10
Fomepizole Approved, Vet_approved Phase 2 7554-65-6 3406
11
Melphalan Approved Phase 2 148-82-3 460612 4053
12
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
Hydroxyurea Approved Phase 2 127-07-1 3657
14
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
15
rituximab Approved Phase 2 174722-31-7 10201696
16 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
17
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
18 tannic acid Approved, Nutraceutical Phase 2
19 Tocopherol Approved, Investigational, Nutraceutical Phase 2
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
21 Alkylating Agents Phase 2
22 Central Nervous System Depressants Phase 2
23 Cyclosporins Phase 2
24 Dermatologic Agents Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antidotes Phase 2
27 Anti-Infective Agents Phase 2
28 Antifungal Agents Phase 2
29 Immunosuppressive Agents Phase 2
30 Anti-Infective Agents, Local Phase 2
31 Antimetabolites Phase 2
32 Protective Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Antirheumatic Agents Phase 2
35 Calcineurin Inhibitors Phase 2
36 Antitubercular Agents Phase 2
37 N-monoacetylcystine Phase 2
38 Thioctic Acid Phase 2
39 Tocopherols Phase 2
40 Tocotrienols Phase 2
41 Nucleic Acid Synthesis Inhibitors Phase 2
42 Vitamins Phase 2
43 Antilymphocyte Serum Phase 2
44 Antimetabolites, Antineoplastic Phase 2
45 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
46 Alpha-lipoic Acid Nutraceutical Phase 2
47
Dinoprostone Approved Phase 1 363-24-6 5280360
48
Bezafibrate Approved, Investigational 41859-67-0 39042
49
Hydroxocobalamin Approved 13422-51-0 5460373 44475014 11953898
50
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4

Interventional clinical trials:

(show all 28)

# 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 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
3 Phase IIa Study of Fomepizole for Acetaldehyde Toxicity After Ethanol Exposure in Subjects With Altered Ethanol Metabolism Completed NCT00661141 Phase 2 Antizol;Placebo
4 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
5 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
6 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)
7 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 Phase 2
10 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
11 Evaluation of the Safety and Efficacy of TXA127 (Angiotensin 1-7) to Enhance Engraftment in Pediatric Patients Undergoing Single or Double Umbilical Cord Blood Transplantation Withdrawn NCT01554254 Phase 2 TXA127
12 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
13 A Trial of a Single ProHema-CB Product Transplant in Pediatric Patients With Inherited Metabolic Disorders Terminated NCT02354443 Phase 1
14 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Bezafibrate
15 Data Collection in Women With Fabry Disease Completed NCT00030134
16 Registry of Fabry Disease - A Multicenter Observational Study Completed NCT00055016
17 Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity Completed NCT00106912
18 Glycosylation in Patients With Galactosaemia Completed NCT02218632
19 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
20 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
21 Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain Recruiting NCT02450604
22 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
23 Second or Greater Allogeneic Hematopoietic Stem Cell Transplant Using Reduced Intensity Conditioning (RIC) Recruiting NCT01666080 Busulfan;Fludarabine;Keppra
24 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697
25 Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria Not yet recruiting NCT03333720
26 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389
27 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
28 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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:

38
Liver, Bone, Bone Marrow, Testes, Skin, Brain, Eye

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 68)
# 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
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders. ( 24149831 )
2013
6
Insurance coverage of medical foods for treatment of inherited metabolic disorders. ( 23598714 )
2013
7
Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects. ( 24085555 )
2013
8
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
9
Transplantation for inherited metabolic disorders of the liver. ( 23498779 )
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
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ( 22475884 )
2012
13
Epilepsy in inherited metabolic disorders: a pediatric series. ( 22992533 )
2012
14
Feeding difficulties in children with inherited metabolic disorders: a pilot study. ( 22320889 )
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
Should children with inherited metabolic disorders receive varicella vaccination? ( 19846994 )
2011
18
Accuracy of home enteral feed preparation for children with inherited metabolic disorders. ( 21114554 )
2011
19
Stem cell transplantation in inherited metabolic disorders. ( 22160047 )
2011
20
Neuroimaging of inherited metabolic disorders producing seizures. ( 21463921 )
2011
21
Pharmacokinetics of clofarabine in patients with high-risk inherited metabolic disorders undergoing brain-sparing hematopoietic cell transplantation. ( 20525919 )
2011
22
Gene transfer for inherited metabolic disorders of the liver: immunological challenges. ( 21774775 )
2011
23
Liver transplantation for inherited metabolic disorders of the liver. ( 20489626 )
2010
24
Inherited metabolic disorders involving the eye: a clinico-biochemical perspective. ( 19798114 )
2010
25
Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. ( 19395404 )
2010
26
Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. ( 20307715 )
2010
27
Early onset epilepsy and inherited metabolic disorders: diagnosis and management. ( 20481269 )
2010
28
Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ( 20065125 )
2010
29
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. ( 20739751 )
2010
30
Errors in emergency feeds in inherited metabolic disorders: a randomised controlled trial of three preparation methods. ( 20522472 )
2010
31
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
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
Epilepsy in inherited metabolic disorders. ( 19225367 )
2008
35
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. ( 19016343 )
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
Stem cell therapy for inherited metabolic disorders of the liver. ( 18375039 )
2008
38
Inherited metabolic disorders and cerebral infarction. ( 18986243 )
2008
39
Spectrum of inherited metabolic disorders in Malaysia. ( 19904455 )
2008
40
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy. ( 18217108 )
2008
41
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. ( 18252165 )
2008
42
Capillary electrophoretic method for nucleotide analysis in cells: application on inherited metabolic disorders. ( 17203505 )
2007
43
Home enteral tube feeding in patients with inherited metabolic disorders: safety issues. ( 17845378 )
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
The incidence of inherited metabolic disorders in the West Midlands, UK. ( 16690699 )
2006
46
Hepatitic inherited metabolic disorders. ( 17355091 )
2006
47
External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. ( 17102891 )
2006
48
Study of inherited metabolic disorders in Singapore - 13 years experience. ( 17160197 )
2006
49
Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. ( 16563365 )
2006
50
First-trimester fetal nuchal translucency and inherited metabolic disorders. ( 16378318 )
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:

# 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 9.67 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 9.4 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)
# 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 steroid metabolic process GO:0008202 9.72 APOB CYP21A2 UGT1A1
5 response to ethanol GO:0045471 9.71 FECH HAMP 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 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
9 response to iron ion GO:0010039 9.56 HAMP HFE
10 glycosphingolipid metabolic process GO:0006687 9.54 GBA GBA3 GLA
11 positive regulation of peptide hormone secretion GO:0090277 9.49 HFE INS
12 multicellular organismal iron ion homeostasis GO:0060586 9.48 HAMP HFE
13 cellular response to iron ion GO:0071281 9.43 HFE TF
14 glycoside catabolic process GO:0016139 9.4 GBA3 GLA
15 carbohydrate metabolic process GO:0005975 9.35 GAA GBA3 GLA IDUA INS
16 glycosylceramide catabolic process GO:0046477 9.32 GBA3 GLA
17 response to iron ion starvation GO:1990641 9.16 HAMP HFE
18 acute-phase response GO:0006953 9.02 HAMP HFE INS SERPINA1 UGT1A1

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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