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GTP cyclohydrolase I deficiency

Disease Export to PDF
Name:
GTP cyclohydrolase I deficiency
Description:
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
ORPHAcode:
2102
Synonyms:
GTPCH deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
GCH1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Parkinson (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRKN 100.00 0 Core gene / NM_004562.2
    LRRK2 100.00 0 Core gene / NM_198578.3
    PARK7 100.00 0 Core gene / NM_007262.4
    SNCA 100.00 0 Core gene / NM_000345.3
    PINK1 100.00 0 Core gene / NM_032409.2
    VPS35 100.00 0 Core gene / NM_018206.5
    ATP13A2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3
    ATP1A3 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5
    ATP6AP2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2
    CHCHD2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3
    DNAJC13 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3
    DNAJC6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1
    FBXO7 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3
    PLA2G6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3
    RAB39B 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3
    SYNJ1 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3
    GBA1 100.00 0 risk factor genes / NM_001005741.2
    GCH1 100.00 0 risk factor genes / NM_000161.2