MCID: HST007
MIFTS: 22

Histidine Metabolism Disease

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Histidine Metabolism Disease

MalaCards integrated aliases for Histidine Metabolism Disease:

Name: Histidine Metabolism Disease 12 15
Disturbances of Histidine Metabolism 12
Disorder of Histidine Metabolism 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9265
ICD9CM 34 270.5
SNOMED-CT 67 44176004
ICD10 32 E70.4
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 71 C0268512
Orphanet 58 ORPHA79181
UMLS 70 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 urocanase deficiency. An important gene associated with Histidine Metabolism Disease is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Metabolism and Carbon metabolism.

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

Drugs & Therapeutics for Histidine Metabolism Disease

Search Clinical Trials , NIH Clinical Center for Histidine Metabolism Disease

Genetic Tests for Histidine Metabolism Disease

Anatomical Context for Histidine Metabolism Disease

Publications for Histidine Metabolism Disease

Articles related to Histidine Metabolism Disease:

# Title Authors PMID Year
1
Congenital and acquired disturbances of histidine metabolism. 61
4154152 1974
2
The disturbances of histidine metabolism in hereditary stammering. 61
5377117 1969

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 UROC1 UPB1 SLC5A10 PRODH NIT2 NANS
2
Show member pathways
11.94 HAO2 GLDC AMT
3
Show member pathways
11.35 UROC1 PRODH HYKK HAL
4
Show member pathways
11.15 GLDC DMGDH AMT
5 11.02 NIT2 ADSL
6
Show member pathways
10.95 GLDC AMT
7
Show member pathways
10.89 UROC1 HAL
8 10.81 HAO2 GLDC AMT
9 10.02 UROC1 HAL

GO Terms for Histidine Metabolism Disease

Cellular components related to Histidine Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.02 PRODH HYKK GLDC DMGDH AMT

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 PRODH HAO2 GLDC DMGDH
2 nitrogen compound metabolic process GO:0006807 9.4 UPB1 NIT2
3 histidine catabolic process GO:0006548 9.37 UROC1 HAL
4 glycine decarboxylation via glycine cleavage system GO:0019464 9.32 GLDC AMT
5 histidine metabolic process GO:0006547 9.26 UROC1 HAL
6 histidine catabolic process to glutamate and formate GO:0019557 9.16 UROC1 HAL
7 histidine catabolic process to glutamate and formamide GO:0019556 8.96 UROC1 HAL
8 glycine catabolic process GO:0006546 8.62 GLDC AMT

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 PRODH HAO2 GLDC DMGDH
2 catalytic activity GO:0003824 9.35 NANS HAO2 HAL GLDC ADSL
3 lyase activity GO:0016829 8.92 UROC1 HAL GLDC ADSL

Sources for Histidine Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....