MCID: HST006
MIFTS: 45

Histidinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Histidinemia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 49OMIM, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Histidinemia:

Name: Histidinemia 10 45 22 23 47 12 51 49 67 24 65
Histidase Deficiency 45 22 23 51
Hal Deficiency 45 22 23 51
Histidine Ammonia-Lyase Deficiency 45 23 51
His Deficiency 45 23 51
 
Hyperhistidinemia 23 51
Histidinuria 10 51
Histidinuria Renal Tubular Defect 65
Histid 67

Characteristics:

Orphanet epidemiological data:

51
histidinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-5/10000 (Japan); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
histidinemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology10 DOID:0060168
Orphanet51 2157
ICD10 via Orphanet28 E70.8
MESH via Orphanet37 C538320
UMLS via Orphanet66 C0220992
MedGen34 C0220992
OMIM49 235800
UMLS65 C0220992, C0268642

Summaries for Histidinemia

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OMIM:49 Histidinemia is an autosomal recessive metabolic disorder characterized by increased levels of histidine in blood,... (235800) more...

MalaCards based summary: Histidinemia, also known as histidase deficiency, is related to histidinuria renal tubular defect and fibrodysplasia ossificans progressiva, and has symptoms including neurological speech impairment, behavioral abnormality and intellectual disability. An important gene associated with Histidinemia is HAL (Histidine Ammonia-Lyase), and among its related pathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. Affiliated tissues include skin, brain and lung, and related mouse phenotype renal/urinary system.

Disease Ontology:10 A histidine metabolism disease that involves a deficiency of the enzyme histidase.

UniProtKB/Swiss-Prot:67 Histidinemia: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.

Genetics Home Reference:23 Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.

Wikipedia:68 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Related Diseases for Histidinemia

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Graphical network of the top 20 diseases related to Histidinemia:



Diseases related to histidinemia

Symptoms for Histidinemia

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Symptoms by clinical synopsis from OMIM:

235800

Clinical features from OMIM:

235800

HPO human phenotypes related to Histidinemia:

id Description Frequency HPO Source Accession
1 neurological speech impairment rare (5%) HP:0002167
2 behavioral abnormality rare (5%) HP:0000708
3 intellectual disability very rare (1%) HP:0001249
4 hyperhistidinemia HP:0010906
5 histidinuria HP:0002927

Drugs & Therapeutics for Histidinemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Histidinemia

Genetic Tests for Histidinemia

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Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia22 HAL

Anatomical Context for Histidinemia

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MalaCards organs/tissues related to Histidinemia:

33
Skin, Brain, Lung, Heart, Hypothalamus, Endothelial, B cells

Animal Models for Histidinemia or affiliated genes

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MGI Mouse Phenotypes related to Histidinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9CEBPB, CTH, GGT1, HAL, PLG, PPOX

Publications for Histidinemia

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Articles related to Histidinemia:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Morphine blocks the Mesobuthus tamulus venom-induced augmentation of phenyldiguanide reflex and pulmonary edema in anesthetized rats. (26997727)
2016
2
How can we know if new drugs are effective in myeloproliferative neoplasm-associated myelofibrosis? (27125203)
2016
3
Goiter In The Art Of Renaissance Europe. (27154774)
2016
4
Accuracy of classifying poorly differentiated non-small cell lung carcinoma biopsies with commonly used lung carcinoma markers. (25776027)
2015
5
Decreased SIRT2 activity leads to altered microtubule dynamics in oxidatively-stressed neuronal cells: implications for Parkinson's disease. (24792244)
2014
6
Mutation screening of HOXA7 and HOXA9 genes in Chinese women with MA1llerian duct abnormalities. (25246116)
2014
7
Receptor activator of nuclear factor-kappa ligand, OPG, and IGF-I expression during orthodontically induced inflammatory root resorption in the recombinant human growth hormone-treated rats. (25184787)
2014
8
Psychological Stress as a Trigger for Herpes Zoster: Might the Conventional Wisdom Be Wrong? (25389252)
2014
9
Oncologic benefit of tonsillectomy in stage I and II tonsil cancer: a surveillance epidemiology and end results database review. (23599071)
2013
10
Meta-analysis on the associations of TLR2 gene polymorphisms with pulmonary tuberculosis susceptibility among Asian populations. (24124467)
2013
11
Cell biology of Smad2/3 linker region phosphorylation in vascular smooth muscle. (21883378)
2012
12
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-VarA^n syndrome or report of a new entity. (22044576)
2012
13
Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma. (22183980)
2012
14
Targeting MAGE-C1/CT7 expression increases cell sensitivity to the proteasome inhibitor bortezomib in multiple myeloma cell lines. (22110734)
2011
15
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin. (22013141)
2011
16
Fractalkine receptor/ligand genetic variants and carotid intima-media thickness. (19372452)
2009
17
A presentation of longstanding toxoplasmosis chorioretinitis. (19111254)
2009
18
Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis. (18781385)
2009
19
E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. (19250909)
2009
20
Regulated insulin delivery from human epidermal cells reverses hyperglycemia. (18431361)
2008
21
Hypothalamic deep brain stimulation for cluster headache: experience from a new multicase series. (18254897)
2008
22
Treatment of acute mania with ambient air anionization: variants of climactic heat stress and serotonin syndrome. (17451018)
2007
23
EhGEF2, a Dbl-RhoGEF from Entamoeba histolytica has atypical biochemical properties and participates in essential cellular processes. (17125853)
2007
24
Increase in [11C]vorozole binding to aromatase in the hypothalamus in rats treated with anabolic androgenic steroids. (17301684)
2007
25
Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. (16840830)
2006
26
Activation of EDTA-resistant gelatinases in malignant human tumors. (17047060)
2006
27
Autoimmunity is triggered by cPR-3(105-201), a protein complementary to human autoantigen proteinase-3. (14661018)
2004
28
Regression of advanced diabetic nephropathy by hepatocyte growth factor gene therapy in rats. (15047630)
2004
29
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. (14630445)
2003
30
Cellular localization and expression patterns of interleukin-10, interleukin-4, and their receptors in multiple sclerosis lesions. (11921201)
2002
31
Exogenous cysteine and cystine promote cell proliferation in CaCo-2 cells. (11952646)
2002
32
Elevated level of plasma basic fibroblast growth factor in multiple myeloma correlates with increased disease activity. (11985797)
2002
33
Aggresome-related biogenesis of Lewy bodies. (12473081)
2002
34
The ability of estradiol to induce Fos expression in a subset of estrogen receptor-alpha-containing neurons in the preoptic area of the ewe depends on reproductive status. (10614639)
2000
35
Purification, biochemical, and immunological characterisation of a major food allergen: different immunoglobulin E recognition of the apo- and calcium-bound forms of carp parvalbumin. (10764710)
2000
36
A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1. (10568747)
1999
37
Identification of three key active site residues in the C-terminal domain of human recombinant folylpoly-gamma-glutamate synthetase by site-directed mutagenesis. (10480915)
1999
38
Increased angiogenesis in the uterine cervix associated with human papillomavirus infection. (10220796)
1999
39
The plasmin-binding protein Plr of group A streptococci is identified as glyceraldehyde-3-phosphate dehydrogenase. (8760943)
1996
40
Helicobacter pylori-specific tumour-infiltrating T cells provide contact dependent help for the growth of malignant B cells in low-grade gastric lymphoma of mucosa-associated lymphoid tissue. (8683376)
1996
41
The association between mortality rates and decreased concentrations of interleukin-10 and interleukin-1 receptor antagonist in the lung fluids of patients with the adult respiratory distress syndrome. (8686976)
1996
42
Insulinotropic actions of intravenous glucagon-like peptide-1 (GLP-1) [7-36 amide] in the fasting state in healthy subjects. (7612912)
1995
43
Tyrosine phosphorylation and activation of STAT5, STAT3, and Janus kinases by interleukins 2 and 15. (7568001)
1995
44
Bilateral persistent trigeminal arteries presenting with brain-stem infarction. (1528434)
1992
45
Warfarin resistance and enteral feedings. (2496251)
1989
46
Magnetic resonance imaging of spinal cord hemangioblastoma. (2980611)
1986
47
Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. (6842343)
1983
48
Charge-shift electrophoresis of apolipoproteins from normal humans and patients with Tangier disease. (216585)
1979
49
Anencephaly: early ultrasonic diagnosis and active management. (4117712)
1972
50
Exchange blood transfusion in hepatic coma of acute hepatic necrosis. (5727780)
1968

Variations for Histidinemia

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UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

67
id Symbol AA change Variation ID SNP ID
1HALp.Arg206ThrVAR_022915
2HALp.Arg208LeuVAR_022916
3HALp.Pro259LeuVAR_022917
4HALp.Arg322ProVAR_022918

Expression for genes affiliated with Histidinemia

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Search GEO for disease gene expression data for Histidinemia.

Pathways for genes affiliated with Histidinemia

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Pathways related to Histidinemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8ADSL, GOT1
29.8ADSL, GOT1
3
Show member pathways
9.8ADSL, GOT1
4
Show member pathways
9.3CTH, GGT1, PLG

GO Terms for genes affiliated with Histidinemia

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Biological processes related to Histidinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glutamate metabolic processGO:00065369.9GGT1, GOT1
2cellular amino acid metabolic processGO:00065209.7GGT1, QDPR
3cellular nitrogen compound metabolic processGO:00346419.3GOT1, HAL, QDPR

Sources for Histidinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet