Hyperphenylalaninemia, bh4-deficient, D

Preferred Label : Hyperphenylalaninemia, bh4-deficient, D;

Symbol : HPABH4D;

CISMeF acronym : HPABH4D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pcbd deficiency; Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia with primapterinuria; Cadh deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pterin-4-alpha-carbinolamine dehydratase 1 gene (PCBD1, 126090.0001);

Laboratory abnormalities : Hyperphenylalaninemia; Increased urinary 7-biopterin (primapterin); Increased urinary neopterin; Normal CSF neurotransmitters; Increased urinary magnesium; Low serum magnesium;

Prefixed ID : #264070;

Details

Origin ID

264070;

UMLS CUI

C1849700;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- Hyperphenylalaninemia with primapterinuria [MeSH concept]
- hyperphenylalaninemia with primapterinuria [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Pterin-4 alpha-carbinolamine dehydratase deficiency [ORDO Disease]
- Pterin-4-carbinolamine dehydratase deficiency [ICD-11 More detail]
- Pterin-4-carbinolamine dehydratase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Pterin-4-alpha-carbinolamine dehydratase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated urinary 7-biopterin level [HPO term]
- Generalized hypotonia [HPO term]
- Hyperphenylalaninemia [HPO term]
- Hypertonia [HPO term]
- Motor delay [HPO term]
- Transient hyperphenylalaninemia [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- Pterin-4 alpha-carbinolamine dehydratase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphenylalaninemia with primapterinuria [MeSH concept]
- Pterin-4 alpha-carbinolamine dehydratase deficiency [ORDO Disease]
- hyperphenylalaninemia with primapterinuria [MeSH Supplementary Concept]

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