MCID: HST006
MIFTS: 43

Histidinemia malady

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

Aliases & Classifications for Histidinemia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Histidinemia:

Name: Histidinemia 52 11 48 24 25 54 70 27 50 13 68
Histidase Deficiency 48 24 25 54
Hal Deficiency 48 24 25 54
Histidine Ammonia-Lyase Deficiency 48 25 54
His Deficiency 48 25 54
 
Hyperhistidinemia 25 54
Histidinuria 11 54
Histidinuria Renal Tubular Defect 68
Histidine Ammonia-Lyase 12
Histid 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
histidinemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 235800
Disease Ontology11 DOID:0060168
Orphanet54 ORPHA2157
ICD10 via Orphanet31 E70.8
MESH via Orphanet40 C538320
UMLS via Orphanet69 C0220992
MedGen37 C0220992

Summaries for Histidinemia

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NIH Rare Diseases:48 Histidinemia is an inherited metabolic condition characterized by elevated levels of the amino acid histidine in blood, urine, and cerebrospinal fluid. In most cases, people with this condition have no health problems and may not even know that they are affected. Individuals with histidinemia who also experience a medical complication during or shortly after birth (such as a temporary lack of oxygen), may be at an increased risk of developing intellectual disability, behavioral problems, or learning disabilities. Histidinemia is caused by changes (mutations) in the HAL gene. This gene provides instructions for making an enzyme called histidase, which breaks down histidine into a molecule called urocanic acid. If histidase doesn't do its job properly, histidine levels become elevated. Histidinemia is inherited in an autosomal recessive pattern. Because there are no symptoms associated with this condition, treatment is not necessary. Last updated: 11/14/2016

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 Valproic Acid Pathway, Pharmacodynamics and Arginine biosynthesis. 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:70 Histidinemia: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.

Genetics Home Reference:25 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.

OMIM:52 Histidinemia is an autosomal recessive metabolic disorder characterized by increased levels of histidine in blood,... (235800) more...

Wikipedia:71 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 diseases related to Histidinemia:



Diseases related to histidinemia

Symptoms & Phenotypes for Histidinemia

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Symptoms by clinical synopsis from OMIM:

235800

Clinical features from OMIM:

235800

Human phenotypes related to Histidinemia:

 64
id Description HPO Frequency HPO Source Accession
1 behavioral abnormality64 rare (5%) HP:0000708
2 neurological speech impairment64 rare (5%) HP:0002167
3 intellectual disability64 very rare (1%) HP:0001249
4 histidinuria64 HP:0002927
5 hyperhistidinemia64 HP:0010906

MGI Mouse Phenotypes related to Histidinemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0CEBPB, CTH, GGT1, HAL, PLG, PPOX

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 Histidinemia27 24 HAL

Anatomical Context for Histidinemia

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MalaCards organs/tissues related to Histidinemia:

36
Skin, Testes

Publications for Histidinemia

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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
Histidase and histidinemia. Clinical and molecular considerations. (1943682)
1991
8
Biochemical investigation of histidinemia in schizophrenic patients. (2297554)
1990
9
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. (2469414)
1989
10
Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine. (2482142)
1989
11
Developmental disorders in histidinemia--follow-up study of language development in histidinemia. (2472732)
1987
12
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism. (3710332)
1986
13
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan. (3836313)
1985
14
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
15
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s). (6530403)
1984
16
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet. (6823923)
1983
17
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants. (7067128)
1982
18
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. (7119955)
1982
19
Histidinemia: biochemical parameters for diagnosis. (7211776)
1981
20
Histidinemia: biochemistry and behavior. (7211773)
1981
21
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia. (7400897)
1980
22
Serotonin in experimental histidinemia. (7464987)
1980
23
Histidinemia and infantile autism. (438113)
1979
24
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia. (476954)
1979
25
The nutritional therapy of histidinemia. (490237)
1979
26
Deficits in discrimination and maze learning resulting from maternal histidinemia in rats. (563880)
1977
27
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. (617985)
1977
28
Studies on the production and assessment of experimental histidinemia in the rat. (8133)
1976
29
Histidinemia produced in the rat by treatment with nitromethane1. (1178145)
1975
30
Infantile spasms associated with histidinemia. (1167649)
1975
31
Histidinemia with features of the Marfan syndrome. (1127531)
1975
32
Histidinemia. Classical and atypical form in siblings. (1146783)
1975
33
Histidinemia. Report of a case. (4443038)
1974
34
Histidinemia. (4453360)
1974
35
Routine newborn screening for histidinemia. Clinical and biochemical results. (4421298)
1974
36
Histidinemia and "normohistidinemic histidinuria". Report of three cases and the effect of different protein intakes on urinary excretion of histidine. (4820585)
1974
37
Dietary correction of histidinemia in older children possible. (4776480)
1973
38
The use of histidase for the study of amniotic cell origin and histidinemia. (4126443)
1973
39
Application of automation and systems analysis to detection of histidinemia. (4561695)
1972
40
High-voltage thin-layer electrophoretic method for detecting histidinemia. (5573402)
1971
41
Histidinemia in a Negro child. (5568581)
1971
42
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases. (4995301)
1971
43
Evidence for delayed histidine transamination in neonates with histidinemia. (5547620)
1971
44
Speech and histidinemia: methodology and evaluation of four cases. (5477943)
1970
45
A simple test for histidinuria and histidinemia. (5533434)
1970
46
Histidinemia. (5463226)
1970
47
Histidinemia discovered by urine screening after renal transplantation. (4912555)
1970
48
Metabolic effects of an experimental histidinemia. (5524082)
1970
49
Histidinemia in two successive generations. (5414811)
1970
50
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. (5388366)
1969

Variations for Histidinemia

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UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

70
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

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Search GEO for disease gene expression data for Histidinemia.

Pathways for genes affiliated with Histidinemia

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GO Terms for genes affiliated with Histidinemia

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
12-oxoglutarate metabolic processGO:000610310.2GOT1, GOT2
2aspartate biosynthetic processGO:000653210.2GOT1, GOT2
3aspartate catabolic processGO:000653310.2GOT1, GOT2
4aspartate metabolic processGO:000653110.2GOT1, GOT2
5cellular amino acid biosynthetic processGO:000865210.1GOT1, GOT2
6cysteine biosynthetic processGO:001934410.1CTH, GGT1
7dicarboxylic acid metabolic processGO:004364810.0GOT1, GOT2
8glutamate catabolic process to 2-oxoglutarateGO:001955110.0GOT1, GOT2
9glutamate catabolic process to aspartateGO:001955010.0GOT1, GOT2
10oxaloacetate metabolic processGO:00061079.6GOT1, GOT2
11cellular amino acid metabolic processGO:00065209.5GGT1, GOT2, QDPR
12glutamate metabolic processGO:00065369.4GGT1, GOT1, GOT2

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

idNameGO IDScoreTop Affiliating Genes
1carboxylic acid bindingGO:003140610.1GOT1, GOT2
2L-aspartate:2-oxoglutarate aminotransferase activityGO:000406910.1GOT1, GOT2
3L-phenylalanine:2-oxoglutarate aminotransferase activityGO:008013010.1GOT1, GOT2
4pyridoxal phosphate bindingGO:00301709.3CTH, GOT1, GOT2

Sources for Histidinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet