HISTID
MCID: HST006
MIFTS: 48

Histidinemia (HISTID)

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

Aliases & Classifications for Histidinemia

MalaCards integrated aliases for Histidinemia:

Name: Histidinemia 56 12 74 52 25 58 73 36 29 54 6 43 15 39 71
Histidine Ammonia-Lyase Deficiency 56 52 25 58
Histidase Deficiency 56 52 25 58
Hal Deficiency 56 52 25 58
His Deficiency 56 52 25 58
Hyperhistidinemia 25 58
Histidinuria 12 58
Histidinuria Renal Tubular Defect 71
Histid 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
generally considered to be a benign disorder
high prevalence in japan
one compound heterozygous patient reported (last curated february 2015)
relationship of rare neuropsychiatric signs to histidinemia is unclear



Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060168
OMIM 56 235800
KEGG 36 H00171
MeSH 43 C538320
MESH via Orphanet 44 C538320
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 72 C0220992 C0268642
Orphanet 58 ORPHA2157
MedGen 41 C0220992
UMLS 71 C0220992 C0268642

Summaries for Histidinemia

NIH Rare Diseases : 52 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.

MalaCards based summary : Histidinemia, also known as histidine ammonia-lyase deficiency, is related to alkaptonuria and autosomal recessive disease. An important gene associated with Histidinemia is HAL (Histidine Ammonia-Lyase), and among its related pathways/superpathways are Histidine metabolism and Metabolism. Affiliated tissues include skin, cortex and testes, and related phenotypes are histidinuria and hyperhistidinemia

Disease Ontology : 12 A histidine metabolism disease characterized by a deficiency of the enzyme histidase.

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. The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders.

OMIM : 56 Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987). (235800)

KEGG : 36 Histidinemia is an autosomal recessive disorder resulting from histidase deficiency.

UniProtKB/Swiss-Prot : 73 Histidinemia: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.

Wikipedia : 74 Histidinemia, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme... more...

Related Diseases for Histidinemia

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 30.1 PRODH NIT2
2 autosomal recessive disease 29.3 PRODH HAL GLDC GCSH
3 histidinuria renal tubular defect 12.5
4 phenylketonuria 10.4
5 homocystinuria 10.3
6 cataract 10.2
7 purine-pyrimidine metabolic disorder 10.2 PRODH ADSL
8 cystinuria 10.2
9 dermatitis, atopic 10.2
10 rickets 10.2
11 dermatitis 10.2
12 inherited metabolic disorder 10.2
13 argininosuccinic aciduria 10.1 DMGDH ADSL
14 late-onset retinal degeneration 10.1 PRODH ADSL
15 pyrimidine metabolic disorder 10.0 UPB1 PRODH
16 dihydropyrimidinase deficiency 10.0 UPB1 ADSL
17 fibrosis of extraocular muscles, congenital, 1 10.0
18 marfan syndrome 10.0
19 autism 10.0
20 galactosemia ii 10.0
21 galactosemia i 10.0
22 histidinuria due to a renal tubular defect 10.0
23 maple syrup urine disease 10.0
24 hyperphenylalaninemia, bh4-deficient, c 10.0
25 sjogren-larsson syndrome 10.0
26 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
28 deficiency anemia 10.0
29 west syndrome 10.0
30 ptosis 10.0
31 visual epilepsy 10.0
32 hypothyroidism 10.0
33 hyperglycemia 10.0
34 hypotrichosis 10.0
35 speech disorder 10.0
36 tyrosinemia 10.0
37 hyperphenylalaninemia 10.0
38 aminoacidopathies 10.0
39 ring chromosome 2 10.0
40 hereditary hypophosphatemic rickets 10.0
41 encephalopathy 10.0
42 seizure disorder 10.0
43 atypical glycine encephalopathy 9.9 GLDC GCSH
44 glycine encephalopathy 9.7 PRODH GLDC GCSH
45 cutis laxa, autosomal dominant 1 9.6 GLDC GCSH
46 propionic acidemia 9.5 GLDC GCSH
47 histidine metabolism disease 6.4 UROC1 UPB1 SLC5A10 PRODH OR2T11 NIT2

Graphical network of the top 20 diseases related to Histidinemia:



Diseases related to Histidinemia

Symptoms & Phenotypes for Histidinemia

Human phenotypes related to Histidinemia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 histidinuria 58 31 obligate (100%) Obligate (100%) HP:0002927
2 hyperhistidinemia 58 31 obligate (100%) Obligate (100%) HP:0010906
3 behavioral abnormality 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000708
4 neurological speech impairment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002167
5 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
6 moderate global developmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0011343
7 hyperactivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000752
8 intellectual disability 31 very rare (1%) HP:0001249

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
decreased histidase activity
decreased urocanic acid in stratum corneum

Neurologic Behavioral Psychiatric Manifestations:
behavioral disorders (rare)

Neurologic Central Nervous System:
mental retardation (rare less than 1% of cases)
speech disorders (rare)

Laboratory Abnormalities:
increased histidine in blood, urine, and csf
decreased or absent histidase activity
decreased urocanic acid in blood, urine, and skin cells

Clinical features from OMIM:

235800

Drugs & Therapeutics for Histidinemia

Search Clinical Trials , NIH Clinical Center for Histidinemia

Cochrane evidence based reviews: histidinemia

Genetic Tests for Histidinemia

Genetic tests related to Histidinemia:

# Genetic test Affiliating Genes
1 Histidinemia 29 HAL

Anatomical Context for Histidinemia

MalaCards organs/tissues related to Histidinemia:

40
Skin, Cortex, Testes, Thymus, Brain, Liver

Publications for Histidinemia

Articles related to Histidinemia:

(show top 50) (show all 148)
# Title Authors PMID Year
1
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. 56 54 61 6
15806399 2005
2
Molecular cloning and structural characterization of the human histidase gene (HAL). 54 56 61
8530107 1995
3
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. 56 61
8486363 1993
4
Developmental disorders in histidinemia--follow-up study of language development in histidinemia. 56 61
2472732 1987
5
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. 61 56
7119955 1982
6
Histidinemia. Classical and atypical form in siblings. 61 56
1146783 1975
7
Routine newborn screening for histidinemia. Clinical and biochemical results. 61 56
4421298 1974
8
Histidinemia in a Negro child. 56 61
5568581 1971
9
Speech and histidinemia: methodology and evaluation of four cases. 56 61
5477943 1970
10
Histidinemia discovered by urine screening after renal transplantation. 61 56
4912555 1970
11
Histidinemia in two successive generations. 61 56
5414811 1970
12
A simple indirect method of detecting the enzyme defect in histidinemia. 56 61
5360505 1969
13
Salient features of histidinemia. 56 61
6015913 1967
14
Histidinemia. Current status. 61 56
5333773 1967
15
Three new cases of Histidinemia. Clinical and biochemical data. 56 61
5985338 1966
16
Histidinemia. 61 56
5844105 1965
17
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. 61 56
14044449 1963
18
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. 61 56
14001384 1963
19
The enzymatic defect in histidinemia. 56 61
14461183 1962
20
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. 61 56
13863215 1962
21
Histidinaemia: a benign metabolic disorder. 56
8669938 1996
22
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56
1937486 1991
23
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. 56
3128688 1988
24
Histidinaemia. Part III: Impact; a prospective study. 56
6192285 1983
25
Histidinaemia. Part II: Impact; a retrospective study. 56
6410118 1983
26
Histidinaemia. Part I: Reconciling retrospective and prospective findings. 56
6192284 1983
27
Histidinaemia in Sweden. Report on a neonatal screening programme. 56
7307322 1981
28
Is hereditary histidinaemia harmful? 56
4132436 1974
29
Histidinaemic mutant in the mouse. 56
4583487 1973
30
Histidinaemia. Study of relation between clinical and biological findings in 7 subjects. 56
5023465 1972
31
Maternal histidinaemia. 56
5555485 1971
32
A familial disturbance of histidine metabolism. 56
13704885 1961
33
Effects of histidine and imidazolelactic acid on various parameters of the oxidative stress in cerebral cortex of young rats. 54 61
15036381 2004
34
Metabolic approaches to the treatment of autism spectrum disorders. 54 61
11098885 2000
35
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry. 61 54
10360421 1999
36
Pharmacokinetics of stable isotopically labeled L-histidine in humans and the assessment of in vivo histidine ammonia lyase activities. 61 54
8825190 1996
37
Histidase and histidinemia. Clinical and molecular considerations. 61 54
1943682 1991
38
Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1. 54 61
2055114 1991
39
Characterization of L-histidine ammonia-lyase immobilized by microencapsulation in artificial cells: preparation, kinetics, stability, and in vitro depletion of histidine. 54 61
2347667 1990
40
In-Syringe Electrokinetic Ampholytes Focusing Coupled with Electrospray Ionization Mass Spectrometry. 61
31141347 2019
41
Nano optical probe samarium tetracycline complex for early diagnosis of histidinemia in new born children. 61
28262611 2017
42
Effect of histidine administration to female rats during pregnancy and lactation on enzymes activity of phosphoryltransfer network in cerebral cortex and hippocampus of the offspring. 61
22638695 2012
43
Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening. 61
23330242 2012
44
Administration of histidine to female rats induces changes in oxidative status in cortex and hippocampus of the offspring. 61
22237970 2012
45
The lure of treatment: expanded newborn screening and the curious case of histidinemia. 61
20156889 2010
46
Surface-activated chemical ionization in the analysis of arginine in plasma samples. 61
15838926 2005
47
Lessons from the past--looking to the future. Newborn screening. 61
12942892 2003
48
Newborn screening in Japan. 61
15906702 2003
49
[Histidinemia]. 61
11462700 2001
50
[Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience]. 61
10910678 1999

Variations for Histidinemia

ClinVar genetic disease variations for Histidinemia:

6 (show top 50) (show all 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HAL NM_002108.4(HAL):c.617G>C (p.Arg206Thr)SNV Affects 1689 rs121434327 12:96386556-96386556 12:95992778-95992778
2 HAL NM_002108.4(HAL):c.623G>T (p.Arg208Leu)SNV Affects 1690 rs121434328 12:96386550-96386550 12:95992772-95992772
3 HAL NM_002108.4(HAL):c.776C>T (p.Pro259Leu)SNV Affects 1691 rs121434329 12:96384250-96384250 12:95990472-95990472
4 HAL NM_002108.4(HAL):c.965G>C (p.Arg322Pro)SNV Affects 1692 rs121434330 12:96380931-96380931 12:95987153-95987153
5 HAL NM_002108.4(HAL):c.1287+2T>CSNV Uncertain significance, association 225880 rs141634423 12:96377687-96377687 12:95983909-95983909
6 HAL NM_002108.4(HAL):c.855+9C>TSNV Conflicting interpretations of pathogenicity 310714 rs35144639 12:96384162-96384162 12:95990384-95990384
7 HAL NM_002108.4(HAL):c.1584G>A (p.Thr528=)SNV Conflicting interpretations of pathogenicity 732015 12:96371792-96371792 12:95978014-95978014
8 HAL NM_002108.4(HAL):c.715+9A>GSNV Conflicting interpretations of pathogenicity 779267 12:96386449-96386449 12:95992671-95992671
9 HAL NM_002108.4(HAL):c.1106G>A (p.Arg369Gln)SNV Conflicting interpretations of pathogenicity 310711 rs117991621 12:96379884-96379884 12:95986106-95986106
10 HAL NM_002108.4(HAL):c.686C>T (p.Thr229Ile)SNV Uncertain significance 310717 rs143844261 12:96386487-96386487 12:95992709-95992709
11 HAL NM_002108.4(HAL):c.-231deldeletion Uncertain significance 310734 rs886049904 12:96390005-96390005 12:95996227-95996227
12 HAL NM_002108.4(HAL):c.*1409G>ASNV Uncertain significance 310675 rs141219113 12:96366601-96366601 12:95972823-95972823
13 HAL NM_002108.4(HAL):c.1801G>A (p.Glu601Lys)SNV Uncertain significance 310702 rs377498665 12:96370239-96370239 12:95976461-95976461
14 HAL NM_002108.4(HAL):c.1416G>A (p.Glu472=)SNV Uncertain significance 310707 rs372729432 12:96374437-96374437 12:95980659-95980659
15 HAL NM_002108.4(HAL):c.429G>A (p.Glu143=)SNV Uncertain significance 310720 rs138613169 12:96387759-96387759 12:95993981-95993981
16 HAL NM_002108.4(HAL):c.398G>A (p.Arg133His)SNV Uncertain significance 310722 rs781172842 12:96387881-96387881 12:95994103-95994103
17 HAL NM_002108.4(HAL):c.-120C>TSNV Uncertain significance 310731 rs537728013 12:96389894-96389894 12:95996116-95996116
18 HAL NM_002108.4(HAL):c.*1359C>ASNV Uncertain significance 310676 rs192416544 12:96366651-96366651 12:95972873-95972873
19 HAL NM_002108.4(HAL):c.*1161C>TSNV Uncertain significance 310682 rs368835467 12:96366849-96366849 12:95973071-95973071
20 HAL NM_002108.4(HAL):c.*789G>ASNV Uncertain significance 310686 rs549057913 12:96367221-96367221 12:95973443-95973443
21 HAL NM_002108.4(HAL):c.*756C>TSNV Uncertain significance 310687 rs115037995 12:96367254-96367254 12:95973476-95973476
22 HAL NM_002108.4(HAL):c.*555G>ASNV Uncertain significance 310691 rs137976982 12:96367455-96367455 12:95973677-95973677
23 HAL NM_002108.4(HAL):c.493G>A (p.Gly165Ser)SNV Uncertain significance 310718 rs137949606 12:96387608-96387608 12:95993830-95993830
24 HAL NM_002108.4(HAL):c.1453T>C (p.Phe485Leu)SNV Uncertain significance 310706 rs886049901 12:96374400-96374400 12:95980622-95980622
25 HAL NM_002108.4(HAL):c.*1300T>GSNV Uncertain significance 881356 12:96366710-96366710 12:95972932-95972932
26 HAL NM_002108.4(HAL):c.475G>T (p.Glu159Ter)SNV Uncertain significance 632204 rs1365129216 12:96387713-96387713 12:95993935-95993935
27 HAL NM_002108.4(HAL):c.484+1G>ASNV Uncertain significance 632203 rs746735988 12:96387703-96387703 12:95993925-95993925
28 HAL NM_002108.4(HAL):c.309-2A>GSNV Uncertain significance 632205 rs140799551 12:96388605-96388605 12:95994827-95994827
29 HAL NM_002108.4(HAL):c.287C>T (p.Ser96Phe)SNV Uncertain significance 881913 12:96388732-96388732 12:95994954-95994954
30 HAL NM_002108.4(HAL):c.181C>T (p.Leu61=)SNV Uncertain significance 883083 12:96389508-96389508 12:95995730-95995730
31 HAL NM_002108.4(HAL):c.86G>A (p.Arg29Gln)SNV Uncertain significance 883084 12:96389603-96389603 12:95995825-95995825
32 HAL NM_002108.4(HAL):c.33A>G (p.Glu11=)SNV Uncertain significance 883085 12:96389656-96389656 12:95995878-95995878
33 HAL NM_002108.4(HAL):c.25C>T (p.Arg9Cys)SNV Uncertain significance 883086 12:96389664-96389664 12:95995886-95995886
34 HAL NM_002108.4(HAL):c.-5G>ASNV Uncertain significance 883087 12:96389693-96389693 12:95995915-95995915
35 HAL NM_002108.4(HAL):c.-7C>TSNV Uncertain significance 883088 12:96389695-96389695 12:95995917-95995917
36 HAL NM_002108.4(HAL):c.*4G>ASNV Uncertain significance 883747 12:96368006-96368006 12:95974228-95974228
37 HAL NM_002108.4(HAL):c.1933C>T (p.His645Tyr)SNV Uncertain significance 883748 12:96368051-96368051 12:95974273-95974273
38 HAL NM_002108.4(HAL):c.1823T>C (p.Leu608Pro)SNV Uncertain significance 883749 12:96370217-96370217 12:95976439-95976439
39 HAL NM_002108.4(HAL):c.1794G>A (p.Pro598=)SNV Uncertain significance 883750 12:96370246-96370246 12:95976468-95976468
40 HAL NM_002108.4(HAL):c.1754C>G (p.Ser585Cys)SNV Uncertain significance 881408 12:96370385-96370385 12:95976607-95976607
41 HAL NM_002108.4(HAL):c.1724C>T (p.Pro575Leu)SNV Uncertain significance 881409 12:96370415-96370415 12:95976637-95976637
42 HAL NM_002108.4(HAL):c.1645G>A (p.Val549Met)SNV Uncertain significance 881410 12:96371731-96371731 12:95977953-95977953
43 HAL NM_002108.4(HAL):c.1609T>C (p.Trp537Arg)SNV Uncertain significance 881411 12:96371767-96371767 12:95977989-95977989
44 HAL NM_002108.4(HAL):c.1594G>A (p.Val532Ile)SNV Uncertain significance 881412 12:96371782-96371782 12:95978004-95978004
45 HAL NM_002108.4(HAL):c.1472G>T (p.Gly491Val)SNV Uncertain significance 881413 12:96374381-96374381 12:95980603-95980603
46 HAL NM_002108.4(HAL):c.1428T>G (p.Asn476Lys)SNV Uncertain significance 881847 12:96374425-96374425 12:95980647-95980647
47 HAL NM_002108.4(HAL):c.1329C>G (p.Asn443Lys)SNV Uncertain significance 881848 12:96374600-96374600 12:95980822-95980822
48 HAL NM_002108.4(HAL):c.1277C>G (p.Thr426Arg)SNV Uncertain significance 883014 12:96377699-96377699 12:95983921-95983921
49 HAL NM_002108.4(HAL):c.1169G>A (p.Arg390His)SNV Uncertain significance 883015 12:96379723-96379723 12:95985945-95985945
50 HAL NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr)SNV Uncertain significance 883016 12:96379729-96379729 12:95985951-95985951

UniProtKB/Swiss-Prot genetic disease variations for Histidinemia:

73
# 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 KEGG:

36
# Name Kegg Source Accession
1 Histidine metabolism hsa00340

Pathways related to Histidinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 UROC1 UPB1 SLC5A10 PRODH NIT2 NANS
2
Show member pathways
11.96 HAO2 GLDC GCSH
3
Show member pathways
11.35 UROC1 PRODH HYKK HAL
4
Show member pathways
11.15 GLDC GCSH DMGDH
5 10.99 NIT2 ADSL
6
Show member pathways
10.95 GLDC GCSH
7
Show member pathways
10.9 UROC1 HAL
8 10.81 HAO2 GLDC GCSH
9 10.02 UROC1 HAL

GO Terms for Histidinemia

Cellular components related to Histidinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.02 PRODH HYKK GLDC GCSH DMGDH
2 glycine cleavage complex GO:0005960 8.96 GLDC GCSH

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 PRODH HAO2 GLDC DMGDH
2 nitrogen compound metabolic process GO:0006807 9.4 UPB1 NIT2
3 histidine catabolic process GO:0006548 9.37 UROC1 HAL
4 glycine decarboxylation via glycine cleavage system GO:0019464 9.32 GLDC GCSH
5 histidine metabolic process GO:0006547 9.26 UROC1 HAL
6 histidine catabolic process to glutamate and formate GO:0019557 9.16 UROC1 HAL
7 histidine catabolic process to glutamate and formamide GO:0019556 8.96 UROC1 HAL
8 glycine catabolic process GO:0006546 8.62 GLDC GCSH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 PRODH HAO2 GLDC DMGDH
2 catalytic activity GO:0003824 9.35 NANS HAO2 HAL GLDC ADSL
3 lyase activity GO:0016829 8.92 UROC1 HAL GLDC ADSL

Sources for Histidinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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