MCID: GTP003
MIFTS: 32

Gtp Cyclohydrolase I Deficiency malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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Sources:
45NIH Rare Diseases, 65UMLS, 47Novoseek, 51Orphanet, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

Name: Gtp Cyclohydrolase I Deficiency 45 47 51
Hyperphenylalaninemia, Bh4-Deficient, B 45 65
Gtp Cyclohydrolase-1 Deficiency 22 24
Gtpch Deficiency 22 51
 
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 45
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 51
Gtp Cyclohydrolase 1 Deficiency 22

Characteristics:

Orphanet epidemiological data:

51
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 2102
ICD10 via Orphanet28 E70.1
UMLS via Orphanet66 C0268467
UMLS65 C0268467

Summaries for Gtp Cyclohydrolase I Deficiency

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Wikipedia:68 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 tremor, tremor and seizures. 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. Affiliated tissues include bone, liver and breast.

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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UMLS symptoms related to Gtp Cyclohydrolase I Deficiency:


tremor, seizures, muscle rigidity, lethargy

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 1 Deficiency (gtpch)22 GCH1

Anatomical Context for Gtp Cyclohydrolase I Deficiency

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MalaCards organs/tissues related to Gtp Cyclohydrolase I Deficiency:

33
Bone, Liver, Breast

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

idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00067299.7GCH1, QDPR
2cellular nitrogen compound metabolic processGO:00346419.3QDPR, TH
3nitric oxide metabolic processGO:00462099.1GCH1, PTS

Sources for Gtp Cyclohydrolase I Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet