HISTID
MCID: HST006
MIFTS: 43

Histidinemia (HISTID) malady

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

Aliases & Classifications for Histidinemia

Aliases & Descriptions for Histidinemia:

Name: Histidinemia 54 12 50 24 25 56 66 29 52 14 69
Histidase Deficiency 50 24 25 56
Hal Deficiency 50 24 25 56
Histidine Ammonia-Lyase Deficiency 50 25 56
His Deficiency 50 25 56
Hyperhistidinemia 25 56
Histidinuria 12 56
Histidinuria Renal Tubular Defect 69
Histidine Ammonia-Lyase 13
Histid 66

Characteristics:

Orphanet epidemiological data:

56
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;


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 235800
Disease Ontology 12 DOID:0060168
Orphanet 56 ORPHA2157
ICD10 via Orphanet 34 E70.8
MESH via Orphanet 43 C538320
UMLS via Orphanet 70 C0220992
MedGen 40 C0220992

Summaries for Histidinemia

NIH Rare Diseases : 50 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 intellectual disability, neurological speech impairment and behavioral abnormality. An important gene associated with Histidinemia is HAL (Histidine Ammonia-Lyase), and among its related pathways/superpathways are NRF2 pathway and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include skin and testes, and related phenotype is renal/urinary system.

UniProtKB/Swiss-Prot : 66 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 : 54 Histidinemia is an autosomal recessive metabolic disorder characterized by increased levels of histidine in blood,... (235800) more...

Disease Ontology : 12 A histidine metabolism disease that involves a deficiency of the enzyme histidase.

Wikipedia : 71 Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused... more...

Related Diseases for Histidinemia

Diseases related to Histidinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 histidinuria renal tubular defect 11.9
2 histidinuria due to a renal tubular defect 11.8
3 aneurysm, intracranial berry, 1 10.1 ADSL SLC6A18
4 brain stem cancer 10.0 CYP2B6 PLG
5 bile duct cystadenocarcinoma 10.0 GGT1 SERPINA1
6 marfan syndrome 9.7
7 sjogren-larsson syndrome 9.7
8 congenital hypoplastic anemia 9.7
9 dermatitis 9.7
10 atopic dermatitis 9.7
11 speech disorder 9.7
12 encephalopathy 9.7
13 pentosuria 7.9 ADSL CEBPB CTH CUX1 CYP2B6 FOXK1
14 lip disease 7.9 ADSL CEBPB CTH CUX1 CYP2B6 FOXK1

Graphical network of the top 20 diseases related to Histidinemia:



Diseases related to Histidinemia

Symptoms & Phenotypes for Histidinemia

Symptoms by clinical synopsis from OMIM:

235800

Clinical features from OMIM:

235800

Human phenotypes related to Histidinemia:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 neurological speech impairment 32 HP:0002167
3 behavioral abnormality 32 HP:0000708
4 histidinuria 32 HP:0002927
5 hyperhistidinemia 32 HP:0010906

MGI Mouse Phenotypes related to Histidinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 PLG PPOX SLC6A18 CEBPB CTH GGT1

Drugs & Therapeutics for Histidinemia

Search Clinical Trials , NIH Clinical Center for Histidinemia

Genetic Tests for Histidinemia

Genetic tests related to Histidinemia:

id Genetic test Affiliating Genes
1 Histidinemia 29 24 HAL

Anatomical Context for Histidinemia

MalaCards organs/tissues related to Histidinemia:

39
Skin, Testes

Publications for Histidinemia

Articles related to Histidinemia:

(show top 50) (show all 69)
id Title Authors Year
1
Nano optical probe samarium tetracycline complex for early diagnosis of histidinemia in new born children. ( 28262611 )
2017
2
The lure of treatment: expanded newborn screening and the curious case of histidinemia. ( 20156889 )
2010
3
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. ( 15806399 )
2005
4
Histidinemia in mice: a metabolic defect treated using a novel approach to hepatocellular transplantation. ( 7537713 )
1995
5
Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy. ( 7971002 )
1994
6
Histidinemia: a biochemical variant or a disease? ( 8463510 )
1993
7
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. ( 8486363 )
1993
8
Histidase and histidinemia. Clinical and molecular considerations. ( 1943682 )
1991
9
Biochemical investigation of histidinemia in schizophrenic patients. ( 2297554 )
1990
10
Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine. ( 2482142 )
1989
11
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. ( 2469414 )
1989
12
Developmental disorders in histidinemia--follow-up study of language development in histidinemia. ( 2472732 )
1987
13
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism. ( 3710332 )
1986
14
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan. ( 3836313 )
1985
15
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
16
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s). ( 6530403 )
1984
17
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet. ( 6823923 )
1983
18
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants. ( 7067128 )
1982
19
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. ( 7119955 )
1982
20
Histidinemia: biochemical parameters for diagnosis. ( 7211776 )
1981
21
Histidinemia: biochemistry and behavior. ( 7211773 )
1981
22
Serotonin in experimental histidinemia. ( 7464987 )
1980
23
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia. ( 7400897 )
1980
24
Histidinemia and infantile autism. ( 438113 )
1979
25
The nutritional therapy of histidinemia. ( 490237 )
1979
26
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia. ( 476954 )
1979
27
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. ( 617985 )
1977
28
Deficits in discrimination and maze learning resulting from maternal histidinemia in rats. ( 563880 )
1977
29
Studies on the production and assessment of experimental histidinemia in the rat. ( 8133 )
1976
30
Histidinemia with features of the Marfan syndrome. ( 1127531 )
1975
31
Infantile spasms associated with histidinemia. ( 1167649 )
1975
32
Histidinemia. Classical and atypical form in siblings. ( 1146783 )
1975
33
Histidinemia produced in the rat by treatment with nitromethane1. ( 1178145 )
1975
34
Routine newborn screening for histidinemia. Clinical and biochemical results. ( 4421298 )
1974
35
Histidinemia and "normohistidinemic histidinuria". Report of three cases and the effect of different protein intakes on urinary excretion of histidine. ( 4820585 )
1974
36
Histidinemia. ( 4453360 )
1974
37
Histidinemia. Report of a case. ( 4443038 )
1974
38
The use of histidase for the study of amniotic cell origin and histidinemia. ( 4126443 )
1973
39
Dietary correction of histidinemia in older children possible. ( 4776480 )
1973
40
Application of automation and systems analysis to detection of histidinemia. ( 4561695 )
1972
41
Histidinemia in a Negro child. ( 5568581 )
1971
42
High-voltage thin-layer electrophoretic method for detecting histidinemia. ( 5573402 )
1971
43
Evidence for delayed histidine transamination in neonates with histidinemia. ( 5547620 )
1971
44
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases. ( 4995301 )
1971
45
A simple test for histidinuria and histidinemia. ( 5533434 )
1970
46
Metabolic effects of an experimental histidinemia. ( 5524082 )
1970
47
Histidinemia in two successive generations. ( 5414811 )
1970
48
Histidinemia. ( 5463226 )
1970
49
Speech and histidinemia: methodology and evaluation of four cases. ( 5477943 )
1970
50
Histidinemia discovered by urine screening after renal transplantation. ( 4912555 )
1970

Variations for Histidinemia

UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

66
id Symbol AA change Variation ID SNP ID
1 HAL p.Arg206Thr VAR_022915 rs121434327
2 HAL p.Arg208Leu VAR_022916 rs121434328
3 HAL p.Pro259Leu VAR_022917 rs121434329
4 HAL p.Arg322Pro VAR_022918 rs121434330

Expression for Histidinemia

Search GEO for disease gene expression data for Histidinemia.

Pathways for Histidinemia

Pathways related to Histidinemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.74 GGT1 SERPINA1 SLC6A18
2
Show member pathways
11.59 GOT2 HAL QDPR
3
Show member pathways
11.52 CTH GOT1 GOT2
4
Show member pathways
10.94 GOT1 GOT2
5 10.88 CTH GOT1 GOT2 HAL
6
Show member pathways
10.69 GOT1 GOT2
7 10.68 ADSL GOT1 GOT2
8
Show member pathways
10.27 GOT1 GOT2

GO Terms for Histidinemia

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.63 CTH GOT1 GOT2
2 2-oxoglutarate metabolic process GO:0006103 9.51 GOT1 GOT2
3 oxaloacetate metabolic process GO:0006107 9.49 GOT1 GOT2
4 aspartate metabolic process GO:0006531 9.48 GOT1 GOT2
5 dicarboxylic acid metabolic process GO:0043648 9.43 GOT1 GOT2
6 cysteine biosynthetic process GO:0019344 9.4 CTH GGT1
7 aspartate catabolic process GO:0006533 9.37 GOT1 GOT2
8 aspartate biosynthetic process GO:0006532 9.32 GOT1 GOT2
9 glutamate catabolic process to 2-oxoglutarate GO:0019551 9.26 GOT1 GOT2
10 glutamate catabolic process to aspartate GO:0019550 9.16 GOT1 GOT2
11 glutamate metabolic process GO:0006536 9.13 GGT1 GOT1 GOT2
12 cellular amino acid metabolic process GO:0006520 8.92 GGT1 GOT1 GOT2 QDPR

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.54 ADSL CTH HAL
2 pyridoxal phosphate binding GO:0030170 9.33 CTH GOT1 GOT2
3 transaminase activity GO:0008483 9.32 GOT1 GOT2
4 carboxylic acid binding GO:0031406 9.26 GOT1 GOT2
5 L-aspartate:2-oxoglutarate aminotransferase activity GO:0004069 8.96 GOT1 GOT2
6 L-phenylalanine:2-oxoglutarate aminotransferase activity GO:0080130 8.62 GOT1 GOT2

Sources for Histidinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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