MCID: GTP003
MIFTS: 48

Gtp Cyclohydrolase I Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Gtp Cyclohydrolase I Deficiency

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47OMIM, 33MalaCards
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MalaCards: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia, bh4-deficient, b, is related to phenylketonuria and hyperphenylalaninemia. An important gene associated with Gtp Cyclohydrolase I Deficiency is GCH1 (GTP cyclohydrolase 1), and among its related pathways are Metabolism of nitric oxide and Metabolism of amino acids and derivatives. The compounds 4a-hydroxytetrahydrobiopterin and l-amino acid have been mentioned in the context of this disorder.

Description from OMIM:47 233910,261630,261640,264070

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
gtp cyclohydrolase i deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
hyperphenylalaninemia due to tetrahydrobiopterin deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

gtp cyclohydrolase i deficiency 43 20 22 45 49 62
hyperphenylalaninemia, bh4-deficient, b 43 47
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency 43
hyperphenylalaninemia due to tetrahydrobiopterin deficiency 49
hyperphenylalaninemia due to gtp cyclohydrolase deficiency 49
hyperphenylalaninemia due to bh4 deficiency 49
hyperphenylalaninemia, non-phenylketonuric 62
non-phenylketonuric hyperphenylalaninemia 49
hyperphenylalaninaemia 62
hyperphenylalaninemia 49
gtpch deficiency 49


External Ids:

ICD10 via Orphanet26 E70.1, E79.8
SNOMED-CT via Orphanet59 23447005, 68528007
UMLS via Orphanet63 C0268467, C0751436

Related Diseases for Gtp Cyclohydrolase I Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Gtp Cyclohydrolase I Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.1PTS, QDPR
2hyperphenylalaninemia30.8QDPR, GCH1, PTS, TH
3parkinson's disease30.5GCH1, TH
4mental retardation30.3QDPR, PTS, TH
5mild hyperphenylalaninemia10.7
6maternal hyperphenylalaninemia10.6
7tetrahydrobiopterin deficiency10.5
8hyperphenylalaninemia due to dehydratase deficiency10.5
9dihydropteridine reductase deficiency10.4
10hyperphenylalaninemia, bh4-deficient, a10.4
11cerebritis10.4
12dystonia10.4
13hypotonia10.4
14benign hyperphenylalaninemia10.3
15bh4-deficient hyperphenylalaninemia c10.2
166-pyruvoyl-tetrahydropterin synthase deficiency10.2
17tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
18hypothyroidism10.1
19tyrosinemia10.1
20dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
21dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
22tyrosine hydroxylase deficiency10.1TH
23neuroblastoma10.1TH
24movement disease10.0GCH1, TH
25bipolar disorder10.0GCH1, TH
26pheochromocytoma10.0GCH1, TH
27metabolic syndrome x10.0GCH1, PTS
28vitiligo10.0GCH1, QDPR
29type 2 diabetes mellitus10.0TH, PTS
30congenital heart disease10.0QDPR, TH
31burns9.9
32neuronitis9.9
33homocystinuria9.9
34maple syrup urine disease9.9
35microcephaly9.9
36hemochromatosis9.9
37malignant histiocytosis9.9
38congenital hypothyroidism9.9
39galactosemia9.9
40histiocytosis9.9
41leukemia9.9
42lymphoblastic leukemia9.9
43thyroiditis9.9
44neurologic diseases9.9
45sepiapterin reductase deficiency9.9
46virus associated hemophagocytic syndrome9.9

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

233910

Clinical features from OMIM:

233910,261630,261640,264070

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Gtp Cyclohydrolase I Deficiency

Search NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase 1 Deficiency (gtpch)20 GCH1
2 Gtp Cyclohydrolase I Deficiency22

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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gtp Cyclohydrolase I Deficiency:

64
id Symbol AA change Variation ID SNP ID
1GCH1p.Arg184HisVAR_002643
2GCH1p.Met211IleVAR_002647
3GCH1p.Lys224ArgVAR_002648rs41298442
4GCH1p.Gly108AspVAR_016894
5GCH1p.Met221ThrVAR_016905

Clinvar genetic disease variations for Gtp Cyclohydrolase I Deficiency:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gtp Cyclohydrolase I Deficiency

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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GCH1, PTS
2
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.1QDPR, TH
38.5QDPR, GCH1, PTS
4
Show member pathways
8.0TH, PTS, GCH1, QDPR

Compounds for genes affiliated with Gtp Cyclohydrolase I Deficiency

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45Novoseek, 24HMDB, 29IUPHAR, 51PharmGKB, 11DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin45 2410.8GCH1, TH
2l-amino acid459.7GCH1, TH
3dihydroneopterin triphosphate45 2410.6PTS, GCH1
4carbidopa45 2910.6PTS, TH
5mptp459.6GCH1, TH
6aldose459.6GCH1, PTS
7tetrahydropteridine45 2410.5QDPR, TH
8Sapropterin249.4QDPR, TH
9dihydrofolate459.3QDPR, GCH1
10cgmp45 2910.3GCH1, PTS
11ascorbic acid45 2410.3GCH1, PTS
12leucovorin45 51 1111.3GCH1, QDPR
13amine459.1QDPR, PTS
14epinephrine45 24 1111.1GCH1, TH
15folate459.0QDPR, GCH1
16dihydrobiopterin45 2410.0QDPR, GCH1, TH
17norepinephrine45 24 1110.9QDPR, GCH1, TH
185-hydroxytryptophan458.9TH, PTS, QDPR
19oxygen45 249.9TH, PTS, GCH1
20pterin45 249.9QDPR, PTS, TH
21neopterin458.9PTS, GCH1, QDPR
22nadph45 249.8PTS, GCH1, QDPR
236-pyruvoyltetrahydropterin458.4QDPR, GCH1, PTS, TH
24dihydropteridine45 249.4TH, PTS, GCH1, QDPR
25pteridine458.4QDPR, GCH1, PTS, TH
26sepiapterin45 249.4TH, PTS, GCH1, QDPR
27tetrahydrobiopterin45 24 1110.4QDPR, GCH1, PTS, TH
28levodopa45 119.4TH, PTS, GCH1, QDPR
29catecholamine458.4TH, PTS, GCH1, QDPR
30phenylalanine458.3TH, PTS, GCH1, QDPR
31gtp45 299.3TH, PTS, GCH1, QDPR
32dopamine45 29 24 1111.3QDPR, GCH1, PTS, TH
33h2o2458.3TH, PTS, GCH1, QDPR
34tyrosine458.3TH, PTS, GCH1, QDPR

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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16Gene Ontology
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Cellular components related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:0314109.4GCH1, TH
2neuron projectionGO:0430058.8QDPR, TH
3mitochondrionGO:0057398.4TH, PTS, QDPR
4cytosolGO:0058298.1QDPR, GCH1, PTS, TH
5cytoplasmGO:0057378.0QDPR, GCH1, PTS, TH

Biological processes related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:0424169.6GCH1, TH
2regulation of nitric-oxide synthase activityGO:0509999.4PTS, GCH1
3nitric oxide metabolic processGO:0462099.4PTS, GCH1
4response to lipopolysaccharideGO:0324969.1GCH1, TH
5cellular nitrogen compound metabolic processGO:0346419.1QDPR, TH
6cellular amino acid metabolic processGO:0065209.0QDPR, PTS
7cellular response to drugGO:0356909.0TH, QDPR
8tetrahydrobiopterin biosynthetic processGO:0067298.7QDPR, GCH1, PTS
9small molecule metabolic processGO:0442818.1TH, PTS, GCH1, QDPR

Molecular functions related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428038.5QDPR, GCH1, PTS

Products for genes affiliated with Gtp Cyclohydrolase I Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gtp Cyclohydrolase I Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet