MCID: GTP003
MIFTS: 33

Gtp Cyclohydrolase I Deficiency malady

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

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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Sources:
41NIH Rare Diseases, 60UMLS, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Gtp Cyclohydrolase I Deficiency, Aliases & Descriptions:

Name: Gtp Cyclohydrolase I Deficiency 41 20 43 47 22
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 41 47
Hyperphenylalaninemia, Bh4-Deficient, B 41 60
 
Gtpch Deficiency 41 47
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 2102
ICD10 via Orphanet26 E70.1
UMLS via Orphanet61 C0268467

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.

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)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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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:

6
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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GCH1, PTS
2
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.1QDPR, TH
38.5QDPR, GCH1, PTS
4
Show member pathways
8.0TH, PTS, GCH1, QDPR

Compounds for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 12DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards Suite gene sharing:

(show all 34)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin43 2410.8GCH1, TH
2l-amino acid439.7GCH1, TH
3dihydroneopterin triphosphate43 2410.6PTS, GCH1
4carbidopa43 2810.6PTS, TH
5mptp439.6GCH1, TH
6aldose439.6GCH1, PTS
7tetrahydropteridine43 2410.5QDPR, TH
8Sapropterin249.4QDPR, TH
9dihydrofolate439.3QDPR, GCH1
10cgmp43 2810.3GCH1, PTS
11ascorbic acid43 2410.3GCH1, PTS
12leucovorin43 49 1211.3GCH1, QDPR
13amine439.1QDPR, PTS
14epinephrine43 24 1211.1GCH1, TH
15folate439.0QDPR, GCH1
16dihydrobiopterin43 2410.0QDPR, GCH1, TH
17norepinephrine43 24 1210.9QDPR, GCH1, TH
185-hydroxytryptophan438.9TH, PTS, QDPR
19oxygen43 249.9TH, PTS, GCH1
20pterin43 249.9QDPR, PTS, TH
21neopterin438.9PTS, GCH1, QDPR
22nadph43 249.8PTS, GCH1, QDPR
236-pyruvoyltetrahydropterin438.4QDPR, GCH1, PTS, TH
24dihydropteridine43 249.4TH, PTS, GCH1, QDPR
25pteridine438.4QDPR, GCH1, PTS, TH
26sepiapterin43 249.4TH, PTS, GCH1, QDPR
27tetrahydrobiopterin43 24 1210.4QDPR, GCH1, PTS, TH
28levodopa43 129.4TH, PTS, GCH1, QDPR
29catecholamine438.4TH, PTS, GCH1, QDPR
30phenylalanine438.3TH, PTS, GCH1, QDPR
31gtp43 289.3TH, PTS, GCH1, QDPR
32dopamine43 28 24 1211.3QDPR, GCH1, PTS, TH
33h2o2438.3TH, PTS, GCH1, QDPR
34tyrosine438.3TH, 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 Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet