Hyperphenylalaninemia, bh4-deficient, C

Preferred Label : Hyperphenylalaninemia, bh4-deficient, C;

Symbol : HPABH4C;

CISMeF acronym : HPABH4C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dihydropteridine reductase deficiency; Dhpr deficiency; Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency; Qdpr deficiency; Quinoid dihydropteridine reductase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the quinoid dihydropteridine reductase gene (QDPR, 612676.0001);

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

Prefixed ID : #261630;

Details

Origin ID

261630;

UMLS CUI

C0268465;

Currated CISMeF NLP mapping
- Dihydropteridine reductase deficiency [ICD-11 More detail]
- Dihydropteridine reductase deficiency [ORDO Disease]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- Hyperphenylalaninemia, BH4-deficient C [NCIt concept]
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- phenylketonurias [MeSH Descriptor]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
Genes related to phenotype
- Quinoid dihydropteridine reductase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral calcification [HPO term]
- Choreoathetosis [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Excessive salivation [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperphenylalaninemia [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Progressive neurologic deterioration [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent fever [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Dihydropteridine reductase deficiency [ORDO Disease]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
See also inter- (CISMeF)
- Mild hyperphenylalaninaemia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropteridine reductase deficiency [ICD-11 More detail]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, BH4-deficient C [NCIt concept]
- Mild phenylketonuria [ORDO Disease]
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- dihydropteridine reductase deficiency [SNOMED Notion]
- phenylketonuria II [MeSH concept]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- hyperphenylalaninemia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients