MCID: GTP003
MIFTS: 49

Gtp Cyclohydrolase I Deficiency malady

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

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MalaCards based summary: Gtp Cyclohydrolase I Deficiency, also known as hyperphenylalaninemia, bh4-deficient, b, is related to phenylketonuria and parkinson's disease, and has symptoms including 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 Folate biosynthesis. The compounds dihydroneopterin triphosphate and l-amino acid have been mentioned in the context of this disorder.

Descriptions from OMIM:46 233910,261630,261640,264070

Aliases & Classifications for Gtp Cyclohydrolase I Deficiency

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Gtp Cyclohydrolase I Deficiency, Aliases & Descriptions:

Name: Gtp Cyclohydrolase I Deficiency 42 20 22 44 48 62
Hyperphenylalaninemia, Bh4-Deficient, B 42 46
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 42
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 48
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 48
Hyperphenylalaninemia Due to Bh4 Deficiency 48
 
Hyperphenylalaninemia, Non-Phenylketonuric 62
Non-Phenylketonuric Hyperphenylalaninemia 48
Hyperphenylalaninaemia 62
Hyperphenylalaninemia 48
Gtpch Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

ICD10 via Orphanet26 E70.1
UMLS via Orphanet63 C0268467, C0751436

Related Diseases for Gtp Cyclohydrolase I Deficiency

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.3PTS, QDPR
2parkinson's disease30.5GCH1, TH
3mental retardation29.9QDPR, PTS, TH
4hyperphenylalaninemia29.9QDPR, GCH1, PCBD1, PTS, TH
5mild hyperphenylalaninemia10.7
6maternal hyperphenylalaninemia10.6
7tetrahydrobiopterin deficiency10.6
8hyperphenylalaninemia due to dehydratase deficiency10.5
9hyperphenylalaninemia, bh4-deficient, a10.5
10dihydropteridine reductase deficiency10.4
11cerebritis10.4
12dystonia10.4
13hypotonia10.4
14benign hyperphenylalaninemia10.3
15bh4-deficient hyperphenylalaninemia c10.3
16tyrosine hydroxylase deficiency10.2TH
176-pyruvoyl-tetrahydropterin synthase deficiency10.2
18tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
19hypothyroidism10.1
20tyrosinemia10.1
21dopa-responsive dystonia due to sepiapterin reductase deficiency10.1
22dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1
23neuroblastoma10.1TH
24movement disease10.0GCH1, TH
25acute lymphoblastic leukemia10.0
26burns10.0
27leukemia10.0
28hemochromatosis10.0
29homocystinuria10.0
30maple syrup urine disease10.0
31congenital hypothyroidism10.0
32neuronitis10.0
33microcephaly10.0
34malignant histiocytosis10.0
35galactosemia10.0
36histiocytosis10.0
37lymphoblastic leukemia10.0
38thyroiditis10.0
39neurologic diseases10.0
40sepiapterin reductase deficiency10.0
41virus associated hemophagocytic syndrome10.0
42bipolar disorder9.9GCH1, TH
43metabolic syndrome x9.9GCH1, PTS
44pheochromocytoma9.9GCH1, TH
45vitiligo9.9QDPR, GCH1, PCBD1
46type 2 diabetes mellitus9.7PCBD1, PTS, TH
47insulin resistance9.7PCBD1, PTS, TH

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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Symptoms by clinical synopsis from OMIM:

233910

Clinical features from OMIM:

233910,261630,261640,264070

HPO human phenotypes related to Gtp Cyclohydrolase I Deficiency:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of eye movement HP:0000496
3 irritability HP:0000737
4 seizures HP:0001250
5 lethargy HP:0001254
6 global developmental delay HP:0001263
7 choreoathetosis HP:0001266
8 dystonia HP:0001332
9 tremor HP:0001337
10 episodic fever HP:0001954
11 dysphagia HP:0002015
12 rigidity HP:0002063
13 progressive neurologic deterioration HP:0002344
14 hyperkinesis HP:0002487
15 limb hypertonia HP:0002509
16 infantile onset HP:0003593
17 variable expressivity HP:0003828
18 hyperphenylalaninemia HP:0004923
19 severe muscular hypotonia HP:0006829
20 intellectual disability, progressive HP:0006887

Drugs & Therapeutics for Gtp Cyclohydrolase I Deficiency

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Drug clinical trials:

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Search 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)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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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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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:

6 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1PCBD1NM_000281.3(PCBD1): c.259G> T (p.Glu87Ter)single nucleotide variantPathogenicrs104894172GRCh37Chr 10, 72643763: 72643763
2PCBD1NM_000281.3(PCBD1): c.244T> C (p.Cys82Arg)single nucleotide variantPathogenicrs104894177GRCh37Chr 10, 72643778: 72643778
3PCBD1NM_000281.3(PCBD1): c.236C> T (p.Thr79Ile)single nucleotide variantPathogenicrs121913014GRCh37Chr 10, 72643786: 72643786
4PCBD1PCBD1, GLU86TERsingle nucleotide variantPathogenic
5PCBD1NM_000281.3(PCBD1): c.292C> T (p.Gln98Ter)single nucleotide variantPathogenicrs121913015GRCh37Chr 10, 72643730: 72643730
6PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
7PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
8PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
9PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
10PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
11PTSPTS, 55-BP DEL, NT694deletionPathogenic
12PTSPTS, IVS1, -322A-Tsingle nucleotide variantPathogenic
13QDPRQDPR, 3-BP INS, 390ACTinsertionPathogenic
14QDPRNM_000320.2(QDPR): c.68G> A (p.Gly23Asp)single nucleotide variantPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
15QDPRNM_000320.2(QDPR): c.322T> G (p.Trp108Gly)single nucleotide variantPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
16QDPRNM_000320.2(QDPR): c.106T> C (p.Trp36Arg)single nucleotide variantPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
17QDPRQDPR, IVS3, A-G, 152-BP INSinsertionPathogenic
18QDPRNM_000320.2(QDPR): c.449A> G (p.Tyr150Cys)single nucleotide variantPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
19QDPRNM_000320.2(QDPR): c.270G> A (p.Trp90Ter)single nucleotide variantPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027
20GCH1NM_000161.2(GCH1): c.633G> A (p.Met211Ile)single nucleotide variantPathogenicrs104894443GRCh37Chr 14, 55310855: 55310855
21GCH1NM_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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Expression patterns in normal tissues for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Pathways for genes affiliated with Gtp Cyclohydrolase I Deficiency

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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
9.5GCH1, PTS
28.9QDPR, GCH1, PTS
3
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.5QDPR, PCBD1, TH
4
Show member pathways
7.5TH, PTS, PCBD1, GCH1, QDPR

Compounds for genes affiliated with Gtp Cyclohydrolase I Deficiency

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Gtp Cyclohydrolase I Deficiency according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate44 2410.8GCH1, PTS
2l-amino acid449.8GCH1, TH
3aldose449.7GCH1, PTS
4carbidopa44 2810.7TH, PTS
5tetrahydropteridine44 2410.7TH, QDPR
6mptp449.6GCH1, TH
7Sapropterin249.6QDPR, TH
8dihydrofolate449.6GCH1, QDPR
9leucovorin44 50 1111.6QDPR, GCH1
10pcbd449.5PTS, PCBD1
11amine449.4QDPR, PTS
12folate449.4QDPR, GCH1
137-biopterin449.4PCBD1, QDPR
14neopterin449.2PTS, GCH1, QDPR
15cgmp44 2810.2GCH1, PTS
165-hydroxytryptophan449.2QDPR, PTS, TH
17norepinephrine44 24 1111.2QDPR, GCH1, TH
18nadph44 2410.1PTS, GCH1, QDPR
194a-hydroxytetrahydrobiopterin44 2410.1GCH1, PCBD1, TH
20oxygen44 2410.0GCH1, PTS, TH
21Water248.8TH, PCBD1, GCH1
22pteridine448.7TH, PTS, GCH1, QDPR
23levodopa44 119.7QDPR, GCH1, PTS, TH
24catecholamine448.7TH, PTS, GCH1, QDPR
25dopamine44 28 24 1111.7TH, PTS, GCH1, QDPR
26estrogen448.6TH, PCBD1, GCH1
27tyrosine448.6QDPR, GCH1, PTS, TH
28dihydrobiopterin44 249.5QDPR, GCH1, PCBD1, TH
29pterin44 249.4QDPR, PCBD1, PTS, TH
30dihydropteridine44 248.9QDPR, TH, PTS, PCBD1, GCH1
31sepiapterin44 248.9TH, PTS, PCBD1, GCH1, QDPR
326-pyruvoyltetrahydropterin447.9TH, PTS, PCBD1, GCH1, QDPR
33tetrahydrobiopterin44 24 119.9TH, PTS, PCBD1, GCH1, QDPR
34phenylalanine447.9TH, PTS, PCBD1, GCH1, QDPR
35gtp44 288.9TH, PTS, PCBD1, GCH1, QDPR
36h2o2447.9TH, PTS, PCBD1, GCH1, QDPR

GO Terms for genes affiliated with Gtp Cyclohydrolase I Deficiency

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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:0430059.0QDPR, TH
3mitochondrionGO:0057398.8QDPR, PTS, TH
4cytosolGO:0058297.6QDPR, GCH1, PCBD1, PTS, TH
5cytoplasmGO:0057377.5TH, PTS, PCBD1, GCH1, QDPR

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:0424169.7GCH1, TH
2nitric oxide metabolic processGO:0462099.6GCH1, PTS
3regulation of nitric-oxide synthase activityGO:0509999.6GCH1, PTS
4response to lipopolysaccharideGO:0324969.5GCH1, TH
5cellular amino acid metabolic processGO:0065209.3PTS, QDPR
6L-phenylalanine catabolic processGO:0065599.2QDPR, PCBD1
7cellular response to drugGO:0356909.2QDPR, TH
8protein heterooligomerizationGO:0512918.9GCH1, PCBD1
9cellular nitrogen compound metabolic processGO:0346418.7TH, PCBD1, QDPR
10tetrahydrobiopterin biosynthetic processGO:0067298.3QDPR, GCH1, PCBD1, PTS
11small molecule metabolic processGO:0442817.8TH, PTS, PCBD1, GCH1, QDPR

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428038.9QDPR, GCH1, PTS

Products for genes affiliated with Gtp Cyclohydrolase I Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gtp Cyclohydrolase I Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet