MCID: GTP003
MIFTS: 28

Gtp Cyclohydrolase I Deficiency malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

Aliases & Descriptions for Gtp Cyclohydrolase I Deficiency:

Name: Gtp Cyclohydrolase I Deficiency 50 52
Hyperphenylalaninemia, Bh4-Deficient, B 50 69
Gtp Cyclohydrolase-1 Deficiency 24 29
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 50
Gtp Cyclohydrolase 1 Deficiency 24
Gtp Cyclohydrolase 1 13
Gtpch Deficiency 24

Classifications:



Summaries for Gtp Cyclohydrolase I Deficiency

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, muscle rigidity and seizures. An important gene associated with Gtp Cyclohydrolase I Deficiency is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are eNOS activation and regulation and Folate biosynthesis.

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

Related Diseases for Gtp Cyclohydrolase I Deficiency

Graphical network of the top 20 diseases related to Gtp Cyclohydrolase I Deficiency:



Diseases related to Gtp Cyclohydrolase I Deficiency

Symptoms & Phenotypes for Gtp Cyclohydrolase I Deficiency

UMLS symptoms related to Gtp Cyclohydrolase I Deficiency:


lethargy, muscle rigidity, seizures, tremor

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

Search Clinical Trials , NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase I Deficiency 29
2 Gtp Cyclohydrolase 1 Deficiency (gtpch) 24 GCH1

Anatomical Context for Gtp Cyclohydrolase I Deficiency

Publications for Gtp Cyclohydrolase I Deficiency

Articles related to Gtp Cyclohydrolase I Deficiency:

id Title Authors Year
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

ClinVar genetic disease variations for Gtp Cyclohydrolase I Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GCH1 NM_000161.2(GCH1): c.633G> A (p.Met211Ile) single nucleotide variant Pathogenic rs104894443 GRCh37 Chromosome 14, 55310855: 55310855
2 GCH1 NM_000161.2(GCH1): c.551G> A (p.Arg184His) single nucleotide variant Pathogenic rs104894445 GRCh37 Chromosome 14, 55312561: 55312561

Expression for Gtp Cyclohydrolase I Deficiency

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

Pathways for Gtp Cyclohydrolase I Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.85 GCH1 PTS
2 10 GCH1 PTS QDPR

GO Terms for Gtp Cyclohydrolase I Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.4 GCH1 TH
2 cellular response to drug GO:0035690 9.37 QDPR TH
3 cellular amino acid metabolic process GO:0006520 9.32 PTS QDPR
4 regulation of nitric-oxide synthase activity GO:0050999 9.26 GCH1 PTS
5 dopamine biosynthetic process GO:0042416 9.16 GCH1 TH
6 dihydrobiopterin metabolic process GO:0051066 8.96 GCH1 QDPR
7 tetrahydrobiopterin biosynthetic process GO:0006729 8.8 GCH1 PTS QDPR

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 GCH1 PTS QDPR

Sources for Gtp Cyclohydrolase I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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