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 190715008 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 argininosuccinic aciduria. 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 phenotype is renal/urinary system.

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 21.9 ADSL CEBPB CTH CUX1 CYP2B6 FOXK1
2 argininosuccinic aciduria 10.4 ADSL SLC6A18
3 constrictive pericarditis 10.3 SERPINA1 TRIM37
4 femoral neuropathy 10.1 CYP2B6 PLG
5 cholesterol ester storage disease 10.1 GOT1 SERPINA1
6 hepatic tuberculosis 10.0 GGT1 SERPINA1
7 pancreatic cystadenocarcinoma 9.9 GGT1 SERPINA1
8 methylmalonic aciduria and homocystinuria, cblc type 9.6 MMD PLG
9 carotid artery dissection 9.6 PLG 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

MGI Mouse Phenotypes related to Histidine Metabolism Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 PLG PPOX SLC6A18 CEBPB CTH GGT1

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

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 11.74 GGT1 SERPINA1 SLC6A18
2
Show member pathways
11.59 GOT2 HAL QDPR
3
Show member pathways
11.52 CTH GOT1 GOT2
4 10.88 CTH GOT1 GOT2 HAL
5
Show member pathways
10.85 GOT1 GOT2
6
Show member pathways
10.71 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 13)
# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.63 CTH GOT1 GOT2
2 response to muscle activity GO:0014850 9.52 ADSL GOT2
3 2-oxoglutarate metabolic process GO:0006103 9.51 GOT1 GOT2
4 oxaloacetate metabolic process GO:0006107 9.49 GOT1 GOT2
5 aspartate metabolic process GO:0006531 9.48 GOT1 GOT2
6 cysteine biosynthetic process GO:0019344 9.43 CTH GGT1
7 dicarboxylic acid metabolic process GO:0043648 9.4 GOT1 GOT2
8 aspartate catabolic process GO:0006533 9.37 GOT1 GOT2
9 aspartate biosynthetic process GO:0006532 9.32 GOT1 GOT2
10 glutamate catabolic process to aspartate GO:0019550 9.26 GOT1 GOT2
11 glutamate catabolic process to 2-oxoglutarate GO:0019551 9.16 GOT1 GOT2
12 glutamate metabolic process GO:0006536 9.13 GGT1 GOT1 GOT2
13 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 lyase activity GO:0016829 9.5 ADSL CTH HAL
2 transaminase activity GO:0008483 9.26 GOT1 GOT2
3 carboxylic acid binding GO:0031406 9.16 GOT1 GOT2
4 pyridoxal phosphate binding GO:0030170 9.13 CTH GOT1 GOT2
5 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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