MCID: GTP003
MIFTS: 48

Gtp Cyclohydrolase I Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Gtp Cyclohydrolase I Deficiency

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48OMIM, 34MalaCards
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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:48 233910,261630,261640,264070

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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):

50
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 44 21 23 46 50 63
hyperphenylalaninemia, bh4-deficient, b 44 48
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency 44
hyperphenylalaninemia due to tetrahydrobiopterin deficiency 50
hyperphenylalaninemia due to gtp cyclohydrolase deficiency 50
hyperphenylalaninemia due to bh4 deficiency 50
hyperphenylalaninemia, non-phenylketonuric 63
non-phenylketonuric hyperphenylalaninemia 50
hyperphenylalaninaemia 63
hyperphenylalaninemia 50
gtpch deficiency 50


External Ids:

ICD10 via Orphanet27 E70.1, E79.8
SNOMED-CT via Orphanet60 23447005, 68528007
UMLS via Orphanet64 C0268467, C0751436

Related Diseases for Gtp Cyclohydrolase I Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Gtp Cyclohydrolase I Deficiency

Drug clinical trials:

Search ClinicalTrials for Gtp Cyclohydrolase I Deficiency

Search NIH Clinical Center for Gtp Cyclohydrolase I Deficiency

Search CenterWatch for Gtp Cyclohydrolase I Deficiency

Genetic Tests for Gtp Cyclohydrolase I Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Gtp Cyclohydrolase I Deficiency:

id Genetic test Affiliating Genes
1 Gtp Cyclohydrolase 1 Deficiency (gtpch)21 GCH1
2 Gtp Cyclohydrolase I Deficiency23

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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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gtp Cyclohydrolase I Deficiency:

65
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, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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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 biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
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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46Novoseek, 25HMDB, 30IUPHAR, 52PharmGKB, 12DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
14a-hydroxytetrahydrobiopterin46 2510.8GCH1, TH
2l-amino acid469.7GCH1, TH
3dihydroneopterin triphosphate46 2510.6PTS, GCH1
4carbidopa46 3010.6PTS, TH
5mptp469.6GCH1, TH
6aldose469.6GCH1, PTS
7tetrahydropteridine46 2510.5QDPR, TH
8Sapropterin259.4QDPR, TH
9dihydrofolate469.3QDPR, GCH1
10cgmp46 3010.3GCH1, PTS
11ascorbic acid46 2510.3GCH1, PTS
12leucovorin46 52 1211.3GCH1, QDPR
13amine469.1QDPR, PTS
14epinephrine46 25 1211.1GCH1, TH
15folate469.0QDPR, GCH1
16dihydrobiopterin46 2510.0QDPR, GCH1, TH
17norepinephrine46 25 1210.9QDPR, GCH1, TH
185-hydroxytryptophan468.9TH, PTS, QDPR
19oxygen46 259.9TH, PTS, GCH1
20pterin46 259.9QDPR, PTS, TH
21neopterin468.9PTS, GCH1, QDPR
22nadph46 259.8PTS, GCH1, QDPR
236-pyruvoyltetrahydropterin468.4QDPR, GCH1, PTS, TH
24dihydropteridine46 259.4TH, PTS, GCH1, QDPR
25pteridine468.4QDPR, GCH1, PTS, TH
26sepiapterin46 259.4TH, PTS, GCH1, QDPR
27tetrahydrobiopterin46 25 1210.4QDPR, GCH1, PTS, TH
28levodopa46 129.4TH, PTS, GCH1, QDPR
29catecholamine468.4TH, PTS, GCH1, QDPR
30phenylalanine468.3TH, PTS, GCH1, QDPR
31gtp46 309.3TH, PTS, GCH1, QDPR
32dopamine46 30 25 1211.3QDPR, GCH1, PTS, TH
33h2o2468.3TH, PTS, GCH1, QDPR
34tyrosine468.3TH, PTS, GCH1, QDPR

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet