MCID: GTP003
MIFTS: 29

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

Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Gtp Cyclohydrolase I Deficiency

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MalaCards based summary: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia, bh4-deficient, b, 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 eNOS activation and regulation and Folate biosynthesis.

Related Diseases for Gtp Cyclohydrolase I Deficiency

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Graphical network of the top 20 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Kuvan Treatment in Adults With GTPCH DeficiencyCompletedNCT01425528Phase 1, Phase 2

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)22 GCH1
2 Gtp Cyclohydrolase I Deficiency24

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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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:00314109.9GCH1, TH
2mitochondrionGO:00057398.5PTS, QDPR, TH
3cytosolGO:00058297.7GCH1, PTS, QDPR, TH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.0GCH1, QDPR
2response to lipopolysaccharideGO:00324969.9GCH1, TH
3dopamine biosynthetic processGO:00424169.6GCH1, TH
4cellular response to drugGO:00356909.5QDPR, TH
5nitric oxide metabolic processGO:00462099.4GCH1, PTS
6regulation of nitric-oxide synthase activityGO:00509999.4GCH1, PTS
7cellular amino acid metabolic processGO:00065209.3PTS, QDPR
8cellular nitrogen compound metabolic processGO:00346419.0QDPR, TH
9tetrahydrobiopterin biosynthetic processGO:00067298.8GCH1, PTS, QDPR
10small molecule metabolic processGO:00442818.0GCH1, PTS, QDPR, TH

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
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