MCID: HST006
MIFTS: 45

Histidinemia malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories

Aliases & Classifications for Histidinemia

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

Aliases & Descriptions for Histidinemia:

Name: Histidinemia 10 45 22 23 47 12 51 49 24 65 67
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


Classifications:



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


External Ids:

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

Summaries for Histidinemia

About this section
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 argininosuccinic aciduria, 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 Alanine, aspartate and glutamate metabolism. Affiliated tissues include skin and testes, and related mouse phenotype renal/urinary system.

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

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.

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

Wikipedia:68 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:

(show all 6)
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 autosomal recessive inheritance HP:0000007
5 histidinuria HP:0002927
6 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 Histidinemia22 24 HAL

Anatomical Context for Histidinemia

About this section

MalaCards organs/tissues related to Histidinemia:

33
Skin, Testes

Animal Models for Histidinemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Histidinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2CEBPB, CTH, CUX1, HAL, PLG, SLC6A18

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
Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy. (7971002)
1994
4
Histidinemia: a biochemical variant or a disease? (8463510)
1993
5
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. (8486363)
1993
6
Histidase and histidinemia. Clinical and molecular considerations. (1943682)
1991
7
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. (2469414)
1989
8
Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine. (2482142)
1989
9
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism. (3710332)
1986
10
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
11
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s). (6530403)
1984
12
Histidinemia: biochemical parameters for diagnosis. (7211776)
1981
13
Histidinemia: biochemistry and behavior. (7211773)
1981
14
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia. (7400897)
1980
15
Histidinemia and infantile autism. (438113)
1979
16
The nutritional therapy of histidinemia. (490237)
1979
17
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia. (476954)
1979
18
Deficits in discrimination and maze learning resulting from maternal histidinemia in rats. (563880)
1977
19
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. (617985)
1977
20
Studies on the production and assessment of experimental histidinemia in the rat. (8133)
1976
21
Histidinemia produced in the rat by treatment with nitromethane1. (1178145)
1975
22
Infantile spasms associated with histidinemia. (1167649)
1975
23
Histidinemia with features of the Marfan syndrome. (1127531)
1975
24
Histidinemia. Report of a case. (4443038)
1974
25
Histidinemia. (4453360)
1974
26
Dietary correction of histidinemia in older children possible. (4776480)
1973
27
The use of histidase for the study of amniotic cell origin and histidinemia. (4126443)
1973
28
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases. (4995301)
1971
29
Evidence for delayed histidine transamination in neonates with histidinemia. (5547620)
1971
30
High-voltage thin-layer electrophoretic method for detecting histidinemia. (5573402)
1971
31
Histidinemia in a Negro child. (5568581)
1971
32
Histidinemia discovered by urine screening after renal transplantation. (4912555)
1970
33
Metabolic effects of an experimental histidinemia. (5524082)
1970
34
Histidinemia in two successive generations. (5414811)
1970
35
Speech and histidinemia: methodology and evaluation of four cases. (5477943)
1970
36
A simple test for histidinuria and histidinemia. (5533434)
1970
37
A simple indirect method of detecting the enzyme defect in histidinemia. (5360505)
1969
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
Histidinemia and atopic dermatitis. (4299846)
1968
41
Variations in clinical and laboratory findings in histidinemia. (6015914)
1967
42
Treatment of a patient with histidinemia. (6050352)
1967
43
Three new cases of Histidinemia. Clinical and biochemical data. (5985338)
1966
44
Histidinemia. (5844105)
1965
45
STUDIES IN HISTIDINEMIA. (14293045)
1965
46
HISTIDINEMIA. (14333872)
1964
47
Metabolism of 2-C14 labeled L-histidine in histidinemia. (13989745)
1963
48
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. (14044449)
1963
49
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. (13863215)
1962
50
The enzymatic defect in histidinemia. (14461183)
1962

Variations for Histidinemia

About this section

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

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ADSL, GOT1
29.8ADSL, GOT1
3
Show member pathways
9.8ADSL, GOT1
49.8CTH, GOT1
5
Show member pathways
9.3CTH, GGT1, PLG

GO Terms for genes affiliated with Histidinemia

About this section

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1histone H2A-K119 monoubiquitinationGO:003635310.4RNF2, TRIM37
2sulfur amino acid metabolic processGO:000009610.2CTH, GOT1
3glutamate metabolic processGO:000653610.1GGT1, GOT1
4cysteine biosynthetic processGO:001934410.1CTH, GGT1
5histone H2A monoubiquitinationGO:003551810.0RNF2, TRIM37
6cellular amino acid metabolic processGO:00065209.9GGT1, QDPR
7cellular nitrogen compound metabolic processGO:00346419.0CTH, GOT1, HAL, QDPR
8small molecule metabolic processGO:00442817.9ADSL, CTH, CYP2B6, GGT1, GOT1, HAL

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036828.6CEBPB, CUX1, RNF2, TRIM37

Sources for Histidinemia

About this section
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