MCID: HST006
MIFTS: 44

Histidinemia malady

Metabolic diseases, Nephrological diseases categories

Summaries for Histidinemia

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 and testes.

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

Wikipedia:63 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Description from OMIM:46 235800

Aliases & Classifications for Histidinemia

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
histidinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

histidinemia 8 42 20 22 21 10 44 48 46 60
histidase deficiency 42 21 48
histidine ammonia-lyase deficiency 42 21
hal deficiency 42 21
his deficiency 42 21
histidinuria 8 48
histidinuria renal tubular defect 60
hyperhistidinemia 21


External Ids:

Disease Ontology8 DOID:0060168
OMIM46 235800
MESH via Orphanet35 C538320
ICD10 via Orphanet26 E70.8
SNOMED-CT via Orphanet57 124628005, 410058007
UMLS via Orphanet61 C0220992

Related Diseases for Histidinemia

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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
5atopic dermatitis10.0
6amino acid metabolic disorder10.0
7congenital hypoplastic anemia10.0
8dermatitis10.0
9speech disorder10.0

Graphical network of diseases related to Histidinemia:



Diseases related to histidinemia

Clinical Features for Histidinemia

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46OMIM
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Clinical features from OMIM:

235800

Clinical synopsis from OMIM:

235800

Drugs & Therapeutics for Histidinemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia20 22 HAL

Anatomical Context for Histidinemia

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32MalaCards
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MalaCards organs/tissues related to Histidinemia:

32
Skin, Testes

Animal Models for Histidinemia or affiliated genes

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Publications for Histidinemia

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50PubMed
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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
Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy. (7971002)
1994
3
Histidinemia: a biochemical variant or a disease? (8463510)
1993
4
Histidase and histidinemia. Clinical and molecular considerations. (1943682)
1991
5
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. (2469414)
1989
6
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
7
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan. (3836313)
1985
8
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s). (6530403)
1984
9
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet. (6823923)
1983
10
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants. (7067128)
1982
11
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. (7119955)
1982
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
Serotonin in experimental histidinemia. (7464987)
1980
16
Histidinemia and infantile autism. (438113)
1979
17
The nutritional therapy of histidinemia. (490237)
1979
18
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia. (476954)
1979
19
Deficits in discrimination and maze learning resulting from maternal histidinemia in rats. (563880)
1977
20
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. (617985)
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
Histidinemia with features of the Marfan syndrome. (1127531)
1975
24
Histidinemia. Classical and atypical form in siblings. (1146783)
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
Dietary correction of histidinemia in older children possible. (4776480)
1973
30
The use of histidase for the study of amniotic cell origin and histidinemia. (4126443)
1973
31
Application of automation and systems analysis to detection of histidinemia. (4561695)
1972
32
Histidinemia in a Negro child. (5568581)
1971
33
Histidinemia discovered by urine screening after renal transplantation. (4912555)
1970
34
Metabolic effects of an experimental histidinemia. (5524082)
1970
35
Histidinemia in two successive generations. (5414811)
1970
36
A simple test for histidinuria and histidinemia. (5533434)
1970
37
Histidinemia. (5463226)
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
Variations in clinical and laboratory findings in histidinemia. (6015914)
1967
41
Treatment of a patient with histidinemia. (6050352)
1967
42
Histidinemia. Current status. (5333773)
1967
43
Salient features of histidinemia. (6015913)
1967
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
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. (14001384)
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

Genetic Variations for Histidinemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Histidinemia:

62
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

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

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Pathways for genes affiliated with Histidinemia

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Compounds for genes affiliated with Histidinemia

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44Novoseek, 24HMDB
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Compounds related to Histidinemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydrogen44 2410.4CYP11A1, HAL
2histidine449.2ADSL, HAL

GO Terms for genes affiliated with Histidinemia

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Histidinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet