GTP cyclohydrolase I deficiency
Synonyms: GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GTP cyclohydrolase I deficiency | GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency |
| fr | Déficit en GTP cyclohydrolase I | Déficit en GTPCH · Hyperphénylalaninémie par déficit en GTP cyclohydrolase |
| de | GTP-Cyclohydrolase I-Mangel | GTPCH-Mangel · Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, B |
| es | Deficiencia de GTP-ciclohidrolasa I | |
| it | Deficit di GTP cicloidrolasi 1 | Deficit di GTPCH · Iperfenilalaninemia da deficit di GTP cicloidrolasi |
| nl | GTP-cyclohydrolase I-deficiëntie | GTPCH-deficiëntie · Hyperfenylalaninemie door GTP-cyclohydrolasedeficiëntie |
| pt | Deficiência de GTP cicloidrolase I | Deficiência de GTPCH · Hiperfenilalaninemia por deficiência de GTP cicloidrolase |
| pl | Niedobór cyklohydrolazy I GTP | Hiperfenylalaninemia spowodowana niedoborem cyklohydrolazy GTP · Niedobór GTPCH |
| cs | Deficit GTP cyklohydrolázy I | Deficit GTPCH · Hyperfenylalaninemie způsobená deficitem GTP cyklohydrolázy |
| uk | Дефіцит ГТФ-циклогідролази I | Дефіцит GTPCH · Гіперфенілаланінемія внаслідок дефіциту ГТФ-циклогідролази |
| zh | GTP环化水解酶I缺乏症 | GTP环化水解酶缺乏致高苯丙氨酸血症 |
| tr | GTP siklohidrolaz I eksikliği | GTPCH eksikliği · GTP siklohidrolaz eksikliğine bağlı hiperfenilalaninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233910 | E | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0100186 | E | validated | |
| MeSH | C562656 | E | validated | |
| UMLS | C0268467 | E | validated | |
| GARD | 2844 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:238583Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GCH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4193 | ENSG00000131979 | 600225 | 14q22.2 | GTP cyclohydrolase 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2102
- This record as JSON: /data/d/2102.json