MCID: HST006
MIFTS: 43

Histidinemia malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Histidinemia

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9Disease Ontology, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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), and among its related pathways is Metabolism. The compounds histidine and adenylate have been mentioned in the context of this disorder. Affiliated tissues include skin and testes.

Disease Ontology:9 A histidine metabolism disease that involves a deficiency of the enzyme histidase.

Wikipedia:66 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Description from OMIM:48 235800

Aliases & Classifications for Histidinemia

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

50
histidinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

histidinemia 9 44 21 23 22 11 46 50 48 63
histidase deficiency 44 22 50
histidine ammonia-lyase deficiency 44 22
hal deficiency 44 22
his deficiency 44 22
histidinuria 9 50
histidinuria renal tubular defect 63
hyperhistidinemia 22


External Ids:

Disease Ontology9 DOID:0060168
OMIM48 235800
MESH via Orphanet37 C538320
ICD10 via Orphanet27 E70.8
SNOMED-CT via Orphanet60 124628005, 410058007
UMLS via Orphanet64 C0220992

Related Diseases for Histidinemia

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Sources:
18GeneCards, 19GeneDecks
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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 syndrome10.1
3atopic dermatitis10.0
4marfan syndrome10.0
5sjogren-larsson syndrome10.0
6congenital hypoplastic anemia10.0
7dermatitis10.0
8speech disorder10.0

Graphical network of diseases related to Histidinemia:



Diseases related to histidinemia

Symptoms for Histidinemia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

235800

Clinical features from OMIM:

235800

Drugs & Therapeutics for Histidinemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia21 23 HAL

Anatomical Context for Histidinemia

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34MalaCards
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MalaCards organs/tissues related to Histidinemia:

34
Skin, Testes

Animal Models for Histidinemia or affiliated genes

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Publications for Histidinemia

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53PubMed
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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
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

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

65
id Symbol AA change Variation ID SNP ID
1HALp.Arg206ThrVAR_022915
2HALp.Arg208LeuVAR_022916
3HALp.Pro259LeuVAR_022917
4HALp.Arg322ProVAR_022918

Clinvar genetic disease variations for Histidinemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1HALNM_002108.3(HAL): c.617G> C (p.Arg206Thr)single nucleotide variantPathogenicrs121434327GRCh37Chr 12, 96386556: 96386556
2HALNM_002108.3(HAL): c.623G> T (p.Arg208Leu)single nucleotide variantPathogenicrs121434328GRCh37Chr 12, 96386550: 96386550
3HALNM_002108.3(HAL): c.776C> T (p.Pro259Leu)single nucleotide variantPathogenicrs121434329GRCh37Chr 12, 96384250: 96384250
4HALNM_002108.3(HAL): c.965G> C (p.Arg322Pro)single nucleotide variantPathogenicrs121434330GRCh37Chr 12, 96380931: 96380931

Expression for genes affiliated with Histidinemia

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2BioGPS, 16Gene 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

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Histidinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5ADSL, CYP11A1, HAL

Compounds for genes affiliated with Histidinemia

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46Novoseek, 25HMDB
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Compounds related to Histidinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1histidine469.2ADSL, HAL
2adenylate469.0ADSL, CYP11A1
3hydrogen46 259.8CYP11A1, HAL

GO Terms for genes affiliated with Histidinemia

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17Gene Ontology
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Biological processes related to Histidinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.5ADSL, CYP11A1, HAL

Products for genes affiliated with Histidinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Histidinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet