MCID: GTP003
MIFTS: 39

Gtp Cyclohydrolase I Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Gtp Cyclohydrolase I Deficiency

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MalaCards based summary: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia due to gtp cyclohydrolase deficiency, is related to hyperphenylalaninemia and hyperphenylalaninemia, bh4-deficient, b. 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.

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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Sources:
43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Gtp Cyclohydrolase I Deficiency, Aliases & Descriptions:

Name: Gtp Cyclohydrolase I Deficiency 43 22 45 49 24 62
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 43 49
Gtpch Deficiency 43 49
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 43
 
Hyperphenylalaninemia, Non-Phenylketonuric 62
Hyperphenylalaninemia, Bh4-Deficient, B 43
Hyperphenylalaninaemia 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 2102
ICD10 via Orphanet28 E70.1
UMLS via Orphanet63 C0268467

Related Diseases for Gtp Cyclohydrolase I Deficiency

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Graphical network of diseases related to Gtp Cyclohydrolase I Deficiency:



Diseases related to gtp cyclohydrolase i deficiency

Symptoms for Gtp Cyclohydrolase I Deficiency

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Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

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Drug clinical trials:

Search ClinicalTrials for Gtp Cyclohydrolase I Deficiency

Search NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

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Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase 1 Deficiency (gtpch)22 GCH1
2 Gtp Cyclohydrolase I Deficiency24

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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Articles related to Gtp Cyclohydrolase I Deficiency:

idTitleAuthorsYear
1
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. (20818608)
2011
2
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (18276179)
2008
3
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? (16267845)
2006
4
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. (7730309)
1995
5
Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. (3159515)
1985
6
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. (6734669)
1984

Variations for Gtp Cyclohydrolase I Deficiency

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Clinvar genetic disease variations for Gtp Cyclohydrolase I Deficiency:

7
id Gene Variation Type Significance SNP ID Assembly Location
1GCH1NM_000161.2(GCH1): c.633G> A (p.Met211Ile)single nucleotide variantPathogenicrs104894443GRCh37Chr 14, 55310855: 55310855
2GCH1NM_000161.2(GCH1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs104894445GRCh37Chr 14, 55312561: 55312561

Expression for genes affiliated with Gtp Cyclohydrolase I Deficiency

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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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Pathways related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GCH1, PTS
2
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.1QDPR, TH
38.5PTS, GCH1, QDPR
4
Show member pathways
8.0TH, PTS, GCH1, QDPR

Compounds for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Sources:
45Novoseek, 26HMDB, 30IUPHAR, 51PharmGKB, 13DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin45 2610.8GCH1, TH
2l-amino acid459.7GCH1, TH
3dihydroneopterin triphosphate45 2610.6PTS, GCH1
4carbidopa45 3010.6PTS, TH
5mptp459.6GCH1, TH
6aldose459.6GCH1, PTS
7tetrahydropteridine45 2610.5QDPR, TH
8Sapropterin269.4QDPR, TH
9dihydrofolate459.3QDPR, GCH1
10cgmp45 3010.3GCH1, PTS
11ascorbic acid45 2610.3GCH1, PTS
12leucovorin45 51 1311.3GCH1, QDPR
13amine459.1QDPR, PTS
14epinephrine45 26 1311.1GCH1, TH
15folate459.0QDPR, GCH1
16dihydrobiopterin45 2610.0QDPR, GCH1, TH
17norepinephrine45 26 1310.9QDPR, GCH1, TH
185-hydroxytryptophan458.9TH, PTS, QDPR
19oxygen45 269.9TH, PTS, GCH1
20pterin45 269.9QDPR, PTS, TH
21neopterin458.9PTS, GCH1, QDPR
22nadph45 269.8PTS, GCH1, QDPR
236-pyruvoyltetrahydropterin458.4QDPR, GCH1, PTS, TH
24dihydropteridine45 269.4TH, PTS, GCH1, QDPR
25pteridine458.4QDPR, GCH1, PTS, TH
26sepiapterin45 269.4TH, PTS, GCH1, QDPR
27tetrahydrobiopterin45 26 1310.4QDPR, GCH1, PTS, TH
28levodopa45 139.4TH, PTS, GCH1, QDPR
29catecholamine458.4TH, PTS, GCH1, QDPR
30phenylalanine458.3TH, PTS, GCH1, QDPR
31gtp45 309.3TH, PTS, GCH1, QDPR
32dopamine45 30 26 1311.3QDPR, GCH1, PTS, TH
33h2o2458.3TH, PTS, GCH1, QDPR
34tyrosine458.3TH, PTS, GCH1, QDPR

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.4GCH1, TH
2neuron projectionGO:00430058.8QDPR, TH
3mitochondrionGO:00057398.4TH, PTS, QDPR
4cytosolGO:00058298.1QDPR, GCH1, PTS, TH
5cytoplasmGO:00057378.0QDPR, GCH1, PTS, TH

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:00424169.6GCH1, TH
2regulation of nitric-oxide synthase activityGO:00509999.4PTS, GCH1
3nitric oxide metabolic processGO:00462099.4PTS, GCH1
4response to lipopolysaccharideGO:00324969.1GCH1, TH
5cellular nitrogen compound metabolic processGO:00346419.1QDPR, TH
6cellular amino acid metabolic processGO:00065209.0QDPR, PTS
7cellular response to drugGO:00356909.0TH, QDPR
8tetrahydrobiopterin biosynthetic processGO:00067298.7QDPR, GCH1, PTS
9small molecule metabolic processGO:00442818.1TH, PTS, GCH1, QDPR

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428038.5QDPR, GCH1, PTS

Products for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Sources for Gtp Cyclohydrolase I Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet