MCID: HST007
MIFTS: 28

Histidine Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Histidine Metabolism Disease

MalaCards integrated aliases for Histidine Metabolism Disease:

Name: Histidine Metabolism Disease 12 14
Disturbances of Histidine Metabolism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9265
ICD10 33 E70.4 E70.40
ICD9CM 35 270.5
SNOMED-CT 64 190715008 44176004
UMLS 69 C0268512

Summaries for Histidine Metabolism Disease

Disease Ontology : 12 An amino acid metabolic disorder that involves deficiency in histidine.

MalaCards based summary : Histidine Metabolism Disease, also known as disturbances of histidine metabolism, is related to histidinemia and shwachman-diamond syndrome. An important gene associated with Histidine Metabolism Disease is HAL (Histidine Ammonia-Lyase), and among its related pathways/superpathways are NRF2 pathway and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Pancrelipase and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotype is renal/urinary system.

Related Diseases for Histidine Metabolism Disease

Graphical network of the top 20 diseases related to Histidine Metabolism Disease:



Diseases related to Histidine Metabolism Disease

Symptoms & Phenotypes for Histidine Metabolism Disease

MGI Mouse Phenotypes related to Histidine Metabolism Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 CEBPB CTH GGT1 HAL PLG PPOX

Drugs & Therapeutics for Histidine Metabolism Disease

Drugs for Histidine Metabolism Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 4 53608-75-6
2 Gastrointestinal Agents Phase 4
3 pancreatin Phase 4
4 Pharmaceutical Solutions Phase 4
5 histidine Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
6
Copper Approved Phase 3,Phase 1,Phase 2 7440-50-8 27099
7 Micronutrients Phase 3,Phase 1,Phase 2
8 Trace Elements Phase 3,Phase 1,Phase 2
9
Glycerol Approved, Investigational 56-81-5 753
10
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
11
Glutamic Acid Approved, Nutraceutical 56-86-0 33032
12
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262 389
13
Taurine Approved, Nutraceutical 107-35-7 1123
14 Vitamins
15 N-Methylaspartate
16 arginine Nutraceutical
17 glutamine Nutraceutical
18 alanine Nutraceutical
19 Aspartic Acid Nutraceutical
20 proline Nutraceutical
21 serine Nutraceutical
22 Caproate Nutraceutical
23
Indole Experimental, Nutraceutical 120-72-9 798
24 isoleucine Nutraceutical
25 leucine Nutraceutical
26 methionine Nutraceutical
27 phenylalanine Nutraceutical
28 Tryptophan Nutraceutical
29 tyrosine Nutraceutical
30 valine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Histidine-Tryptophane-Ketoglutarate (HTK) vs University of Wisconsin (UW) Perfusion in Clinical Pancreas Transplantation Completed NCT00737880 Phase 4
2 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine
3 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
4 Amino Acids Expression Profiling of Patients With Sepsis Unknown status NCT01818830
5 Amino Acid and Acylcarnitine Profiles in Premature Neonates Completed NCT00865150
6 Citrulline Challenge Study for Healthy Subjects in the United Kingdom Completed NCT02772861
7 Citrulline and Protein Metabolism in the Malnourished Elderly People Completed NCT00714675
8 Chronic Obstructive Pulmonary Disorder and Acute Exercise Recruiting NCT02780219
9 Plasma Free Amino Acids in Patients With Hepatic Encephalopathy Not yet recruiting NCT03306498 Aminoleban (8% amino acids infusion)

Search NIH Clinical Center for Histidine Metabolism Disease

Genetic Tests for Histidine Metabolism Disease

Anatomical Context for Histidine Metabolism Disease

MalaCards organs/tissues related to Histidine Metabolism Disease:

39
Pancreas

Publications for Histidine Metabolism Disease

Variations for Histidine Metabolism Disease

Expression for Histidine Metabolism Disease

Search GEO for disease gene expression data for Histidine Metabolism Disease.

Pathways for Histidine Metabolism Disease

Pathways related to Histidine Metabolism Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.74 GGT1 SERPINA1 SLC6A18
2
Show member pathways
11.59 GOT2 HAL QDPR
3
Show member pathways
11.52 CTH GOT1 GOT2
4
Show member pathways
10.94 GOT1 GOT2
5 10.88 CTH GOT1 GOT2 HAL
6
Show member pathways
10.69 GOT1 GOT2
7 10.68 ADSL GOT1 GOT2
8
Show member pathways
10.27 GOT1 GOT2

GO Terms for Histidine Metabolism Disease

Biological processes related to Histidine Metabolism Disease according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.63 CTH GOT1 GOT2
2 2-oxoglutarate metabolic process GO:0006103 9.51 GOT1 GOT2
3 oxaloacetate metabolic process GO:0006107 9.49 GOT1 GOT2
4 aspartate metabolic process GO:0006531 9.48 GOT1 GOT2
5 dicarboxylic acid metabolic process GO:0043648 9.43 GOT1 GOT2
6 cysteine biosynthetic process GO:0019344 9.4 CTH GGT1
7 aspartate biosynthetic process GO:0006532 9.37 GOT1 GOT2
8 aspartate catabolic process GO:0006533 9.32 GOT1 GOT2
9 glutamate catabolic process to aspartate GO:0019550 9.26 GOT1 GOT2
10 glutamate catabolic process to 2-oxoglutarate GO:0019551 9.16 GOT1 GOT2
11 glutamate metabolic process GO:0006536 9.13 GGT1 GOT1 GOT2
12 cellular amino acid metabolic process GO:0006520 8.92 GGT1 GOT1 GOT2 QDPR

Molecular functions related to Histidine Metabolism Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.54 ADSL CTH HAL
2 pyridoxal phosphate binding GO:0030170 9.33 CTH GOT1 GOT2
3 transaminase activity GO:0008483 9.32 GOT1 GOT2
4 carboxylic acid binding GO:0031406 9.26 GOT1 GOT2
5 L-phenylalanine:2-oxoglutarate aminotransferase activity GO:0080130 8.96 GOT1 GOT2
6 L-aspartate:2-oxoglutarate aminotransferase activity GO:0004069 8.62 GOT1 GOT2

Sources for Histidine Metabolism Disease

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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