MCID: GTP003
MIFTS: 21

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 46 48
Hyperphenylalaninemia, Bh4-Deficient, B 46 66
Gtp Cyclohydrolase-1 Deficiency 23 25
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 46
 
Gtp Cyclohydrolase 1 Deficiency 23
Gtp Cyclohydrolase 1 12
Gtpch Deficiency 23

Classifications:



Summaries for Gtp Cyclohydrolase I Deficiency

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Wikipedia:69 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).

Related Diseases for Gtp Cyclohydrolase I Deficiency

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Diseases related to Gtp Cyclohydrolase I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia, bh4-deficient, b11.5
2gtp cyclohydrolase 1-deficient dopa-responsive dystonia11.3
3hyperphenylalaninemia10.3
4dystonia10.1
5hypotonia10.1

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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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 Deficiency25
2 Gtp Cyclohydrolase 1 Deficiency (gtpch)23 GCH1

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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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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Sources for Gtp Cyclohydrolase I Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet