MCID: GTP003
MIFTS: 28

Gtp Cyclohydrolase I Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

Name: Gtp Cyclohydrolase I Deficiency 48 50
Hyperphenylalaninemia, Bh4-Deficient, B 48 68
Gtp Cyclohydrolase-1 Deficiency 24 27
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 48
 
Gtp Cyclohydrolase 1 Deficiency 24
Gtp Cyclohydrolase 1 12
Gtpch Deficiency 24

Classifications:



Summaries for Gtp Cyclohydrolase I Deficiency

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Wikipedia:71 GTP cyclohydrolase I (GTPCH) (EC 3.5.4.16) is a member of the GTP cyclohydrolase family of enzymes.... more...

MalaCards based summary: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia, bh4-deficient, b, is related to hyperphenylalaninemia, bh4-deficient, b and gtp cyclohydrolase 1-deficient dopa-responsive dystonia, and has symptoms including lethargy, lethargy and muscle rigidity. An important gene associated with Gtp Cyclohydrolase I Deficiency is GCH1 (GTP Cyclohydrolase 1), and among its related pathways are eNOS activation and regulation and Folate biosynthesis.

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 & Phenotypes for Gtp Cyclohydrolase I Deficiency

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UMLS symptoms related to Gtp Cyclohydrolase I Deficiency:


lethargy, muscle rigidity, seizures, tremor

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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 I Deficiency27
2 Gtp Cyclohydrolase 1 Deficiency (gtpch)24 GCH1

Anatomical Context for Gtp Cyclohydrolase I Deficiency

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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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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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GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Biological processes related to Gtp Cyclohydrolase I Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:004241610.0GCH1, TH
2dihydrobiopterin metabolic processGO:00510669.9GCH1, QDPR
3cellular response to drugGO:00356909.9QDPR, TH
4regulation of nitric-oxide synthase activityGO:00509999.7GCH1, PTS
5cellular amino acid metabolic processGO:00065209.7PTS, QDPR
6response to lipopolysaccharideGO:00324969.6GCH1, TH
7tetrahydrobiopterin biosynthetic processGO:00067298.5GCH1, PTS, QDPR

Molecular functions related to Gtp Cyclohydrolase I Deficiency according to GeneCards Suite gene sharing:

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

Sources for Gtp Cyclohydrolase I Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet