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:
42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

Name: Gtp Cyclohydrolase I Deficiency 42 20 44 48 22
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 42 48
Hyperphenylalaninemia, Bh4-Deficient, B 42 61
 
Gtpch Deficiency 42 48
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 2102
ICD10 via Orphanet26 E70.1
UMLS via Orphanet62 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:

5
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:
44Novoseek, 24HMDB, 28IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards Suite gene sharing:

(show all 34)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin44 2410.8GCH1, TH
2l-amino acid449.7GCH1, TH
3dihydroneopterin triphosphate44 2410.6GCH1, PTS
4carbidopa44 2810.6TH, PTS
5mptp449.6TH, GCH1
6aldose449.6PTS, GCH1
7tetrahydropteridine44 2410.5TH, QDPR
8Sapropterin249.4QDPR, TH
9dihydrofolate449.3GCH1, QDPR
10cgmp44 2810.3PTS, GCH1
11ascorbic acid44 2410.3PTS, GCH1
12leucovorin44 50 1111.3GCH1, QDPR
13amine449.1QDPR, PTS
14epinephrine44 24 1111.1GCH1, TH
15folate449.0GCH1, QDPR
16dihydrobiopterin44 2410.0TH, QDPR, GCH1
17norepinephrine44 24 1110.9QDPR, GCH1, TH
185-hydroxytryptophan448.9PTS, QDPR, TH
19oxygen44 249.9TH, GCH1, PTS
20pterin44 249.9QDPR, PTS, TH
21neopterin448.9QDPR, GCH1, PTS
22nadph44 249.8GCH1, QDPR, PTS
236-pyruvoyltetrahydropterin448.4TH, GCH1, QDPR, PTS
24dihydropteridine44 249.4GCH1, TH, QDPR, PTS
25pteridine448.4PTS, TH, GCH1, QDPR
26sepiapterin44 249.4TH, QDPR, PTS, GCH1
27tetrahydrobiopterin44 24 1110.4TH, PTS, QDPR, GCH1
28levodopa44 119.4PTS, TH, GCH1, QDPR
29catecholamine448.4PTS, GCH1, TH, QDPR
30phenylalanine448.3QDPR, GCH1, PTS, TH
31gtp44 289.3QDPR, PTS, TH, GCH1
32dopamine44 28 24 1111.3TH, PTS, GCH1, QDPR
33h2o2448.3PTS, QDPR, GCH1, TH
34tyrosine448.3QDPR, TH, PTS, GCH1

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

Sources for Gtp Cyclohydrolase I Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet