MCID: GTP003
MIFTS: 23

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. 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 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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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
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
Serum levels of hepatocyte growth factor/scatter factor in patients with liver metastases from breast cancer. (17143015)
2007
2
Mohs micrographic surgery for squamous cell carcinoma arising within lichen sclerosus. (17661947)
2007
3
Liver X receptor and farnesoid X receptor as therapeutic targets. (18047847)
2007
4
Treated cytomegalovirus pneumonia is not associated with bronchiolitis obliterans syndrome. (15297275)
2004
5
The role of provocative visual stimuli in agoraphobia. (2594884)
1989
6
Traumatic lumbar nerve root meningocele. Case report. (4730342)
1973

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