MCID: GTP003
MIFTS: 29

Gtp Cyclohydrolase I Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

About this section

Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

Name: Gtp Cyclohydrolase I Deficiency 47 49
Hyperphenylalaninemia, Bh4-Deficient, B 47 67
Gtp Cyclohydrolase-1 Deficiency 24 26
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 47
 
Gtp Cyclohydrolase 1 Deficiency 24
Gtp Cyclohydrolase 1 12
Gtpch Deficiency 24

Classifications:



Summaries for Gtp Cyclohydrolase I Deficiency

About this section
Wikipedia:70 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 Folate biosynthesis and Metabolism.

Related Diseases for Gtp Cyclohydrolase I Deficiency

About this section

Graphical network of diseases related to Gtp Cyclohydrolase I Deficiency:



Diseases related to gtp cyclohydrolase i deficiency

Symptoms for Gtp Cyclohydrolase I Deficiency

About this section

UMLS symptoms related to Gtp Cyclohydrolase I Deficiency:


lethargy, muscle rigidity, seizures, tremor

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

About this section

Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase I Deficiency26
2 Gtp Cyclohydrolase 1 Deficiency (gtpch)24 GCH1

Anatomical Context for Gtp Cyclohydrolase I Deficiency

About this section

Animal Models for Gtp Cyclohydrolase I Deficiency or affiliated genes

About this section

Publications for Gtp Cyclohydrolase I Deficiency

About this section

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

About this section

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)SNVPathogenicrs104894443GRCh37Chr 14, 55310855: 55310855
2GCH1NM_000161.2(GCH1): c.551G> A (p.Arg184His)SNVPathogenicrs104894445GRCh37Chr 14, 55312561: 55312561

Expression for genes affiliated with Gtp Cyclohydrolase I Deficiency

About this section
Search GEO for disease gene expression data for Gtp Cyclohydrolase I Deficiency.

Pathways for genes affiliated with Gtp Cyclohydrolase I Deficiency

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
18.5GCH1, PTS, QDPR
2
Show member pathways
8.0GCH1, PTS, QDPR, TH

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

About this section

Cellular components related to Gtp Cyclohydrolase I Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.5QDPR, TH
2cytoplasmic vesicleGO:00314109.4GCH1, TH
3mitochondrionGO:00057398.6PTS, QDPR, TH
4cytosolGO:00058297.9GCH1, PTS, QDPR, TH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:00510669.9GCH1, QDPR
2dopamine biosynthetic processGO:00424169.6GCH1, TH
3response to lipopolysaccharideGO:00324969.5GCH1, TH
4cellular response to drugGO:00356909.3QDPR, TH
5cellular amino acid metabolic processGO:00065209.2PTS, QDPR
6regulation of nitric-oxide synthase activityGO:00509999.1GCH1, PTS
7tetrahydrobiopterin biosynthetic processGO:00067298.2GCH1, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet