MCID: HST006
MIFTS: 36

Histidinemia malady

Metabolic, Nephrological categories

Summaries for Histidinemia

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Histidinemia, also known as histidase deficiency, is related to histidinuria renal tubular defect and histiocytosis-lymphadenopathy plus syndrome. An important gene associated with Histidinemia is HAL (histidine ammonia-lyase). The compounds hydrogen and histidine have been mentioned in the context of this disorder. Affiliated tissues include skin.

Disease Ontology:8 A histidine metabolism disease that involves a deficiency of the enzyme histidase.

Wikipedia:64 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Description from OMIM:47 235800

Aliases & Classifications for Histidinemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic, Nephrological


Characteristics (Orphanet epidemiological data):

49
histidinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

histidinemia 8 43 20 22 21 10 45 49 47 61
histidase deficiency 43 21 49
histidine ammonia-lyase deficiency 43 21
hal deficiency 43 21
his deficiency 43 21
histidinuria 8 49
histidinuria renal tubular defect 61
hyperhistidinemia 21


External Ids:

Disease Ontology8 DOID:0060168
OMIM47 235800
MESH via Orphanet36 C538320
ICD10 via Orphanet26 E70.8
SNOMED-CT via Orphanet58 124628005, 410058007
UMLS via Orphanet62 C0220992

Related Diseases for Histidinemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Histidinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1histidinuria renal tubular defect10.4
2histiocytosis-lymphadenopathy plus syndrome10.0
3marfan syndrome10.0
4sjogren-larsson syndrome10.0
5sjogren's syndrome10.0
6atopic dermatitis10.0
7joubert syndrome10.0
8speech disorder10.0

Graphical network of diseases related to Histidinemia:



Diseases related to histidinemia

Clinical Features for Histidinemia

Sources:
47OMIM
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Clinical features from OMIM:

235800

Clinical synopsis from OMIM:

235800

Drugs & Therapeutics for Histidinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Histidinemia

Drug clinical trials:

Search ClinicalTrials for Histidinemia

Search NIH Clinical Center for Histidinemia

Search CenterWatch for Histidinemia

Genetic Tests for Histidinemia

Sources:
20GeneTests, 22GTR
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Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia20 22 HAL

Anatomical Context for Histidinemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Histidinemia:

33
Skin

Animal Models for Histidinemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Histidinemia

Sources:
51PubMed
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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
Biochemical investigation of histidinemia in schizophrenic patients. (2297554)
1990
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
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
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
12
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan. (3836313)
1985
13
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants. (7067128)
1982
14
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. (7119955)
1982
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
Serotonin in experimental histidinemia. (7464987)
1980
19
Histidinemia and infantile autism. (438113)
1979
20
The nutritional therapy of histidinemia. (490237)
1979
21
Infantile spasms associated with histidinemia. (1167649)
1975
22
Histidinemia. Classical and atypical form in siblings. (1146783)
1975
23
Histidinemia and "normohistidinemic histidinuria". Report of three cases and the effect of different protein intakes on urinary excretion of histidine. (4820585)
1974
24
Dietary correction of histidinemia in older children possible. (4776480)
1973
25
The use of histidase for the study of amniotic cell origin and histidinemia. (4126443)
1973
26
Application of automation and systems analysis to detection of histidinemia. (4561695)
1972
27
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases. (4995301)
1971
28
Evidence for delayed histidine transamination in neonates with histidinemia. (5547620)
1971
29
High-voltage thin-layer electrophoretic method for detecting histidinemia. (5573402)
1971
30
Histidinemia in a Negro child. (5568581)
1971
31
Histidinemia discovered by urine screening after renal transplantation. (4912555)
1970
32
Metabolic effects of an experimental histidinemia. (5524082)
1970
33
Histidinemia in two successive generations. (5414811)
1970
34
Speech and histidinemia: methodology and evaluation of four cases. (5477943)
1970
35
A simple test for histidinuria and histidinemia. (5533434)
1970
36
A simple indirect method of detecting the enzyme defect in histidinemia. (5360505)
1969
37
Histidinemia and atopic dermatitis. (4299846)
1968
38
A case of histidinemia controlled with a low histidine diet. (5652918)
1968
39
Variations in clinical and laboratory findings in histidinemia. (6015914)
1967
40
Treatment of a patient with histidinemia. (6050352)
1967
41
Histidinemia. Current status. (5333773)
1967
42
Three new cases of Histidinemia. Clinical and biochemical data. (5985338)
1966
43
Histidinemia. (5844105)
1965
44
STUDIES IN HISTIDINEMIA. (14293045)
1965
45
HISTIDINEMIA. (14333872)
1964
46
THE METABOLISM OF HISTIDINE. VI. HISTIDINEMIA AND IMIDAZOLEPYRUVIC ACIDURIA. (14189893)
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
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. (14001384)
1963
50
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. (13863215)
1962

Genetic Variations for Histidinemia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Histidinemia:

63
id Symbol AA change Variation SNP ID
1HALp.Arg206ThrVAR_022915
2HALp.Arg208LeuVAR_022916
3HALp.Pro259LeuVAR_022917
4HALp.Arg322ProVAR_022918

Expression for genes affiliated with Histidinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Histidinemia

Search GEO for disease gene expression data for Histidinemia.

Pathways for genes affiliated with Histidinemia

Compounds for genes affiliated with Histidinemia

Sources:
45Novoseek, 24HMDB
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Compounds related to Histidinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydrogen45 2410.4CYP11A1, HAL
2histidine459.2ADSL, HAL

GO Terms for genes affiliated with Histidinemia

Sources:
16Gene Ontology
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Biological processes related to Histidinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.9ADSL, CYP11A1, HAL

Products for genes affiliated with Histidinemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Histidinemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet