MCID: HST006
MIFTS: 45

Histidinemia malady

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

Aliases & Classifications for Histidinemia

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 66UMLS, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Histidinemia:

Name: Histidinemia 50 11 46 23 24 13 52 68 25 48 66
Histidase Deficiency 46 23 24 52
Hal Deficiency 46 23 24 52
Histidine Ammonia-Lyase Deficiency 46 24 52
His Deficiency 46 24 52
 
Hyperhistidinemia 24 52
Histidinuria 11 52
Histidinuria Renal Tubular Defect 66
Histidine Ammonia-Lyase 12
Histid 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
histidinemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 235800
Disease Ontology11 DOID:0060168
Orphanet52 ORPHA2157
ICD10 via Orphanet29 E70.8
MESH via Orphanet38 C538320
UMLS via Orphanet67 C0220992
MedGen35 C0220992

Summaries for Histidinemia

About this section
OMIM:50 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 histidinuria due to a renal tubular defect, and has symptoms including behavioral abnormality, neurological speech impairment and intellectual disability. An important gene associated with Histidinemia is HAL (Histidine Ammonia-Lyase), and among its related pathways are Arginine biosynthesis and Amino acid synthesis and interconversion (transamination). Affiliated tissues include skin and testes, and related mouse phenotype renal/urinary system.

Disease Ontology:11 A histidine metabolism disease that involves a deficiency of the enzyme histidase.

UniProtKB/Swiss-Prot:68 Histidinemia: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.

Genetics Home Reference:24 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:69 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Related Diseases for Histidinemia

About this section

Graphical network of diseases related to Histidinemia:



Diseases related to histidinemia

Symptoms for Histidinemia

About this section

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

Drugs & Therapeutics for Histidinemia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Histidinemia

Genetic Tests for Histidinemia

About this section

Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia25 23 HAL

Anatomical Context for Histidinemia

About this section

MalaCards organs/tissues related to Histidinemia:

34
Skin, Testes

Animal Models for Histidinemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Histidinemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9CEBPB, CTH, GGT1, HAL, PLG, PPOX

Publications for Histidinemia

About this section

Articles related to Histidinemia:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
The lure of treatment: expanded newborn screening and the curious case of histidinemia. (20156889)
2010
2
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (15806399)
2005
3
Histidinemia in mice: a metabolic defect treated using a novel approach to hepatocellular transplantation. (7537713)
1995
4
Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy. (7971002)
1994
5
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. (8486363)
1993
6
Histidinemia: a biochemical variant or a disease? (8463510)
1993
7
Biochemical investigation of histidinemia in schizophrenic patients. (2297554)
1990
8
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. (2469414)
1989
9
Developmental disorders in histidinemia--follow-up study of language development in histidinemia. (2472732)
1987
10
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism. (3710332)
1986
11
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan. (3836313)
1985
12
Formation of N tau-ribosylhistidine, a novel histidine derivative found in the urine in histidinemia, from histidine and NAD(P)+ catalyzed by an NAD(P)+ glycohydrolase system. (2992472)
1985
13
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s). (6530403)
1984
14
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet. (6823923)
1983
15
Histidinemia: biochemical parameters for diagnosis. (7211776)
1981
16
Histidinemia: biochemistry and behavior. (7211773)
1981
17
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia. (7400897)
1980
18
Histidinemia and infantile autism. (438113)
1979
19
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia. (476954)
1979
20
Deficits in discrimination and maze learning resulting from maternal histidinemia in rats. (563880)
1977
21
Studies on the production and assessment of experimental histidinemia in the rat. (8133)
1976
22
Histidinemia produced in the rat by treatment with nitromethane1. (1178145)
1975
23
Infantile spasms associated with histidinemia. (1167649)
1975
24
Histidinemia with features of the Marfan syndrome. (1127531)
1975
25
Histidinemia. Report of a case. (4443038)
1974
26
Histidinemia. (4453360)
1974
27
Routine newborn screening for histidinemia. Clinical and biochemical results. (4421298)
1974
28
Histidinemia and "normohistidinemic histidinuria". Report of three cases and the effect of different protein intakes on urinary excretion of histidine. (4820585)
1974
29
High-voltage thin-layer electrophoretic method for detecting histidinemia. (5573402)
1971
30
Histidinemia in a Negro child. (5568581)
1971
31
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases. (4995301)
1971
32
Evidence for delayed histidine transamination in neonates with histidinemia. (5547620)
1971
33
Speech and histidinemia: methodology and evaluation of four cases. (5477943)
1970
34
A simple test for histidinuria and histidinemia. (5533434)
1970
35
Histidinemia. (5463226)
1970
36
Histidinemia discovered by urine screening after renal transplantation. (4912555)
1970
37
Metabolic effects of an experimental histidinemia. (5524082)
1970
38
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. (5388366)
1969
39
Histidinemia: report of four new cases in one family and the effect of low-Histidine diets. (5348485)
1969
40
A simple indirect method of detecting the enzyme defect in histidinemia. (5360505)
1969
41
A case of histidinemia controlled with a low histidine diet. (5652918)
1968
42
Variations in clinical and laboratory findings in histidinemia. (6015914)
1967
43
Salient features of histidinemia. (6015913)
1967
44
Three new cases of Histidinemia. Clinical and biochemical data. (5985338)
1966
45
Histidinemia. (5844105)
1965
46
STUDIES IN HISTIDINEMIA. (14293045)
1965
47
HISTIDINEMIA. (14333872)
1964
48
Metabolism of 2-C14 labeled L-histidine in histidinemia. (13989745)
1963
49
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. (14044449)
1963
50
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. (13863215)
1962

Variations for Histidinemia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

68
id Symbol AA change Variation ID SNP ID
1HALp.Arg206ThrVAR_022915rs121434327
2HALp.Arg208LeuVAR_022916rs121434328
3HALp.Pro259LeuVAR_022917rs121434329
4HALp.Arg322ProVAR_022918rs121434330

Expression for genes affiliated with Histidinemia

About this section
Search GEO for disease gene expression data for Histidinemia.

Pathways for genes affiliated with Histidinemia

About this section

Pathways related to Histidinemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6GOT1, GOT2
2
Show member pathways
9.6GOT1, GOT2
3
Show member pathways
9.6GOT1, GOT2
4
Show member pathways
9.6GOT1, GOT2
59.4ADSL, GOT1, GOT2
6
Show member pathways
9.3CTH, GOT1, GOT2
7
Show member pathways
9.3CTH, GOT1, GOT2
8
Show member pathways
9.2CTH, GGT1, PLG
9
Show member pathways
7.4ADSL, CTH, CYP2B6, GGT1, GOT1, GOT2

GO Terms for genes affiliated with Histidinemia

About this section

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glutamate catabolic process to 2-oxoglutarateGO:001955110.1GOT1, GOT2
2glutamate catabolic process to aspartateGO:001955010.1GOT1, GOT2
3dicarboxylic acid metabolic processGO:004364810.1GOT1, GOT2
4oxaloacetate metabolic processGO:000610710.0GOT1, GOT2
5aspartate catabolic processGO:00065339.9GOT1, GOT2
6aspartate biosynthetic processGO:00065329.9GOT1, GOT2
7cellular amino acid biosynthetic processGO:00086529.8GOT1, GOT2
8cysteine biosynthetic processGO:00193449.8CTH, GGT1
9aspartate metabolic processGO:00065319.6GOT1, GOT2
102-oxoglutarate metabolic processGO:00061039.6GOT1, GOT2
11glutamate metabolic processGO:00065369.4GGT1, GOT1, GOT2
12cellular amino acid metabolic processGO:00065209.0GGT1, GOT2, QDPR

Molecular functions related to Histidinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1L-aspartate:2-oxoglutarate aminotransferase activityGO:000406910.2GOT1, GOT2
2carboxylic acid bindingGO:003140610.1GOT1, GOT2
3L-phenylalanine:2-oxoglutarate aminotransferase activityGO:008013010.1GOT1, GOT2
4pyridoxal phosphate bindingGO:00301709.4CTH, GOT1, GOT2
5RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.2CEBPB, CUX1, FOXK1

Sources for Histidinemia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet