MCID: GTP003
MIFTS: 46

Gtp Cyclohydrolase I Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Gtp Cyclohydrolase I Deficiency

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46OMIM, 32MalaCards
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MalaCards: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia, bh4-deficient, b, is related to phenylketonuria and hyperphenylalaninemia. An important gene associated with Gtp Cyclohydrolase I Deficiency is GCH1 (GTP cyclohydrolase 1), and among its related pathways are Metabolism of nitric oxide and Metabolism of amino acids and derivatives. The compounds 4a-hydroxytetrahydrobiopterin and l-amino acid have been mentioned in the context of this disorder.

Description from OMIM:46 233910,261630,261640,264070

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 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: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
hyperphenylalaninemia due to tetrahydrobiopterin deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

gtp cyclohydrolase i deficiency 42 20 22 44 48 60
hyperphenylalaninemia, bh4-deficient, b 42 46
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency 42
hyperphenylalaninemia due to tetrahydrobiopterin deficiency 48
hyperphenylalaninemia due to gtp cyclohydrolase deficiency 48
hyperphenylalaninemia due to bh4 deficiency 48
hyperphenylalaninemia, non-phenylketonuric 60
non-phenylketonuric hyperphenylalaninemia 48
hyperphenylalaninaemia 60
hyperphenylalaninemia 48
gtpch deficiency 48


External Ids:

ICD10 via Orphanet26 E70.1, E79.8
SNOMED-CT via Orphanet57 23447005, 68528007
UMLS via Orphanet61 C0268467, C0751436

Related Diseases for Gtp Cyclohydrolase I Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Gtp Cyclohydrolase I Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.1PTS, QDPR
2hyperphenylalaninemia30.8QDPR, TH, PTS, GCH1
3parkinson's disease30.5TH, GCH1
4tetrahydrobiopterin deficiency10.6
5hyperphenylalaninemia due to dehydratase deficiency10.4
6hyperphenylalaninemia, bh4-deficient, a10.4
7cerebritis10.4
8maternal hyperphenylalaninemia10.3
9benign hyperphenylalaninemia10.2
10bh4-deficient hyperphenylalaninemia c10.2
11tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.1
12mild hyperphenylalaninemia10.1
13hypothyroidism10.1
14tyrosinemia10.1
15dihydropteridine reductase deficiency10.1
166-pyruvoyl-tetrahydropterin synthase deficiency10.1
17dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
18dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
19tyrosine hydroxylase deficiency10.0TH
20insulin resistance10.0TH, PTS
21pheochromocytoma10.0GCH1, TH
22metabolic syndrome x10.0GCH1, PTS
23movement disease10.0TH, GCH1
24vitiligo10.0QDPR, GCH1
25bipolar disorder10.0TH, GCH1
26mild phenylketonuria10.0
27mental retardation10.0QDPR, TH, PTS
28burns9.9
29congenital hypothyroidism9.9
30hemochromatosis9.9
31microcephaly9.9
32maple syrup urine disease9.9
33homocystinuria9.9
34neuronitis9.9
35malignant histiocytosis9.9
36acute leukemia9.9
37galactosemia9.9
38histiocytosis9.9
39leukemia9.9
40lymphoblastic leukemia9.9
41thyroiditis9.9
42neonatal hemochromatosis9.9
43neurologic diseases9.9

Graphical network of the top 20 diseases related to Gtp Cyclohydrolase I Deficiency:



Diseases related to gtp cyclohydrolase i deficiency

Clinical Features for Gtp Cyclohydrolase I Deficiency

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46OMIM
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Clinical features from OMIM:

233910,261630,261640,264070

Clinical synopsis from OMIM:

233910

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Gtp Cyclohydrolase I Deficiency

Drug clinical trials:

Search ClinicalTrials for Gtp Cyclohydrolase I Deficiency

Search NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Search CenterWatch for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase 1 Deficiency (gtpch)20 GCH1
2 Gtp Cyclohydrolase I Deficiency22

Anatomical Context for Gtp Cyclohydrolase I Deficiency

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Animal Models for Gtp Cyclohydrolase I Deficiency or affiliated genes

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Publications for Gtp Cyclohydrolase I Deficiency

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Genetic Variations for Gtp Cyclohydrolase I Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gtp Cyclohydrolase I Deficiency:

62
id Symbol AA change Variation ID SNP ID
1GCH1p.Arg184HisVAR_002643
2GCH1p.Met211IleVAR_002647
3GCH1p.Lys224ArgVAR_002648rs41298442
4GCH1p.Gly108AspVAR_016894
5GCH1p.Met221ThrVAR_016905

Expression for genes affiliated with Gtp Cyclohydrolase I Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gtp Cyclohydrolase I Deficiency

Search GEO for disease gene expression data for Gtp Cyclohydrolase I Deficiency.

Pathways for genes affiliated with Gtp Cyclohydrolase I Deficiency

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3PTS, GCH1
29.1TH, QDPR
38.5PTS, QDPR, GCH1

Compounds for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 11DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin44 2410.7GCH1, TH
2l-amino acid449.7TH, GCH1
3dihydroneopterin triphosphate44 2410.6PTS, GCH1
4carbidopa44 2810.6PTS, TH
5aldose449.5PTS, GCH1
6mptp449.5GCH1, TH
7tetrahydropteridine44 2410.4QDPR, TH
8leucovorin44 49 1111.3QDPR, GCH1
9dihydrofolate449.2QDPR, GCH1
10folate449.1QDPR, GCH1
11cgmp44 2810.0PTS, GCH1
12amine449.0PTS, QDPR
13tetrahydrobiopterin44 11 2411.0TH, QDPR, GCH1
14dihydrobiopterin44 2410.0TH, QDPR, GCH1
15norepinephrine44 11 2410.9GCH1, QDPR, TH
165-hydroxytryptophan448.9PTS, TH, QDPR
17pterin44 249.9QDPR, TH, PTS
18neopterin448.8PTS, QDPR, GCH1
19nadph44 249.7GCH1, QDPR, PTS
20oxygen44 249.7GCH1, TH, PTS
216-pyruvoyltetrahydropterin448.4PTS, TH, QDPR, GCH1
22dihydropteridine44 249.4GCH1, QDPR, TH, PTS
23pteridine448.4PTS, TH, QDPR, GCH1
24sepiapterin44 249.4GCH1, QDPR, TH, PTS
25levodopa44 119.4GCH1, QDPR, TH, PTS
26catecholamine448.4GCH1, QDPR, TH, PTS
27phenylalanine448.3PTS, TH, QDPR, GCH1
28gtp44 289.3GCH1, QDPR, TH, PTS
29dopamine44 28 11 2411.3GCH1, QDPR, TH, PTS
30h2o2448.3PTS, TH, QDPR, GCH1
31tyrosine448.2GCH1, QDPR, TH, PTS

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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16Gene Ontology
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Cellular components related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:0314109.3GCH1, TH
2neuron projectionGO:0430058.8TH, QDPR
3mitochondrionGO:0057398.5PTS, TH, QDPR
4cytosolGO:0058298.0PTS, TH, QDPR, GCH1

Biological processes related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:0424169.6TH, GCH1
2nitric oxide metabolic processGO:0462099.5GCH1, PTS
3regulation of nitric-oxide synthase activityGO:0509999.4PTS, GCH1
4response to lipopolysaccharideGO:0324969.1TH, GCH1
5cellular nitrogen compound metabolic processGO:0346419.1TH, QDPR
6cellular amino acid metabolic processGO:0065209.0PTS, QDPR
7cellular response to drugGO:0356909.0QDPR, TH
8tetrahydrobiopterin biosynthetic processGO:0067298.7PTS, QDPR, GCH1
9small molecule metabolic processGO:0442818.1GCH1, QDPR, TH, PTS

Molecular functions related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428038.5PTS, QDPR, GCH1

Products for genes affiliated with Gtp Cyclohydrolase I Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gtp Cyclohydrolase I Deficiency

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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