MCID: HST007
MIFTS: 23

Histidine Metabolism Disease

Categories: Metabolic 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

Classifications:



External Ids:

Disease Ontology 12 DOID:9265
ICD10 33 E70.4 E70.40
ICD9CM 35 270.5
SNOMED-CT 68 44176004
UMLS 73 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 constrictive pericarditis. 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.

Related Diseases for Histidine Metabolism Disease

Diseases related to Histidine Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 histidinemia 28.9 ADSL CEBPB CUX1 CYP2B6 FOXK1 GGT1
2 constrictive pericarditis 10.0 SERPINA1 TRIM37
3 cholesterol ester storage disease 10.0 GOT1 SERPINA1
4 hepatic tuberculosis 9.9 GGT1 SERPINA1
5 cystathioninuria 9.9 SERPINA1 SLC6A18
6 stuttering 9.9
7 loeys-dietz syndrome 1 9.8 GOT1 GOT2 SERPINA1

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 Year
1
Congenital and acquired disturbances of histidine metabolism. ( 4154152 )
1974
2
The disturbances of histidine metabolism in hereditary stammering. ( 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

GO Terms for Histidine Metabolism Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.54 GOT1 GOT2
2 biosynthetic process GO:0009058 9.52 GOT1 GOT2
3 acute-phase response GO:0006953 9.51 CEBPB SERPINA1
4 response to muscle activity GO:0014850 9.49 ADSL GOT2
5 2-oxoglutarate metabolic process GO:0006103 9.48 GOT1 GOT2
6 oxaloacetate metabolic process GO:0006107 9.46 GOT1 GOT2
7 aspartate metabolic process GO:0006531 9.43 GOT1 GOT2
8 aspartate catabolic process GO:0006533 9.4 GOT1 GOT2
9 dicarboxylic acid metabolic process GO:0043648 9.37 GOT1 GOT2
10 aspartate biosynthetic process GO:0006532 9.32 GOT1 GOT2
11 glutamate catabolic process to 2-oxoglutarate GO:0019551 9.26 GOT1 GOT2
12 glutamate catabolic process to aspartate GO:0019550 9.16 GOT1 GOT2
13 glutamate metabolic process GO:0006536 9.13 GGT1 GOT1 GOT2
14 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:

# Name GO ID Score Top Affiliating Genes
1 transaminase activity GO:0008483 9.16 GOT1 GOT2
2 carboxylic acid binding GO:0031406 8.96 GOT1 GOT2
3 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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