Hyperphenylalaninemia, bh4-deficient, b

Preferred Label : Hyperphenylalaninemia, bh4-deficient, b;

Symbol : HPABH4B;

CISMeF acronym : HPABH4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase I deficiency; Gtp cyclohydrolase I deficiency;

Included titles and symbols : Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GTP cyclohydrolase 1 gene (GCH1, 600225.0017);

Laboratory abnormalities : Hyperphenylalaninemia; Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF; Decreased neopterin and biopterin in urine; Decreased neopterin and biopterin in CSF; Decreased or absent GCH1 activity;

Prefixed ID : #233910;

Details

Origin ID

233910;

UMLS CUI

C0268467;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- GTP Cyclohydrolase I Deficiency [NCIt concept]
- GTP cyclohydrolase 1 deficiency [ICD-11 More detail]
- GTP cyclohydrolase I deficiency [ORDO Disease]
- Guanosine triphosphate cyclohydrolase I deficiency (disorder) [SNOMED CT concept]
- gtp cyclohydrolase i deficiency [SNOMED Notion]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH concept]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH Supplementary Concept]
Genes related to phenotype
- Gtp cyclohydrolase I [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Excessive salivation [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperkinetic movements [HPO term]
- Hyperphenylalaninemia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Limb hypertonia [HPO term]
- Progressive neurologic deterioration [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent fever [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- GTP cyclohydrolase I deficiency [ORDO Disease]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GTP Cyclohydrolase I Deficiency [NCIt concept]
- GTP cyclohydrolase 1 deficiency [ICD-11 More detail]
- GTP cyclohydrolase I deficiency [ORDO Disease]
- Guanosine triphosphate cyclohydrolase I deficiency (disorder) [SNOMED CT concept]
- gtp cyclohydrolase i deficiency [SNOMED Notion]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH Supplementary Concept]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH concept]

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