MCID: HST007
MIFTS: 23

Histidine Metabolism Disease

Categories: Genetic diseases, 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 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9265
ICD9CM 35 270.5
SNOMED-CT 68 44176004
ICD10 33 E70.4 E70.40
ICD10 via Orphanet 34 E70.8
UMLS via Orphanet 73 C0268512
Orphanet 59 ORPHA79181
UMLS 72 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 HAL (Histidine Ammonia-Lyase), and among its related pathways/superpathways are Arginine and proline metabolism and Amino Acid metabolism.

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 27.1 SERPINA1 MMD HAL GOT2 GOT1 FOXK1
2 urocanase deficiency 11.3
3 cholesterol ester storage disease 10.0 SERPINA1 GOT1
4 femoral neuropathy 9.9 PLG CYP2B6
5 stuttering 9.9
6 encephalopathy 9.9
7 loeys-dietz syndrome 1 9.5 SERPINA1 GOT2 GOT1
8 carotid artery dissection 9.5 SERPINA1 PLG
9 methylmalonic aciduria and homocystinuria, cblc type 9.4 PLG MMD

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. 38
4154152 1974
2
The disturbances of histidine metabolism in hereditary stammering. 38
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 16)
# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.56 SERPINA1 PLG
2 cellular amino acid metabolic process GO:0006520 9.55 GOT2 GOT1
3 cellular amino acid biosynthetic process GO:0008652 9.54 GOT2 GOT1
4 gluconeogenesis GO:0006094 9.52 GOT2 GOT1
5 biosynthetic process GO:0009058 9.51 GOT2 GOT1
6 acute-phase response GO:0006953 9.49 SERPINA1 CEBPB
7 response to muscle activity GO:0014850 9.48 GOT2 ADSL
8 glutamate metabolic process GO:0006536 9.46 GOT2 GOT1
9 2-oxoglutarate metabolic process GO:0006103 9.43 GOT2 GOT1
10 oxaloacetate metabolic process GO:0006107 9.4 GOT2 GOT1
11 aspartate metabolic process GO:0006531 9.37 GOT2 GOT1
12 dicarboxylic acid metabolic process GO:0043648 9.32 GOT2 GOT1
13 aspartate catabolic process GO:0006533 9.26 GOT2 GOT1
14 aspartate biosynthetic process GO:0006532 9.16 GOT2 GOT1
15 glutamate catabolic process to aspartate GO:0019550 8.96 GOT2 GOT1
16 glutamate catabolic process to 2-oxoglutarate GO:0019551 8.62 GOT2 GOT1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 FOXK1 CUX1 CEBPB
2 pyridoxal phosphate binding GO:0030170 9.32 GOT2 GOT1
3 transaminase activity GO:0008483 9.16 GOT2 GOT1
4 carboxylic acid binding GO:0031406 8.96 GOT2 GOT1
5 L-aspartate:2-oxoglutarate aminotransferase activity GO:0004069 8.62 GOT2 GOT1

Sources for Histidine Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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