Hyperphenylalaninemia, mild, non-bh4-deficient

Preferred Label : Hyperphenylalaninemia, mild, non-bh4-deficient;

Symbol : HPANBH4;

CISMeF acronym : HPANBH4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 12 gene (DNAJC12, 606060.0001);

Laboratory abnormalities : Increased serum phenylalanine; Decreased dopamine and serotonin metabolites in the cerebrospinal fluid;

Prefixed ID : #617384;

Details

Origin ID

617384;

UMLS CUI

C4479270;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia due to DNAJC12 deficiency [ORDO Disease]
- Mild Non-BH4-Deficient Hyperphenylalaninemia [NCIt concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily C, member 12 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Broad-based gait [HPO term]
- Delayed speech and language development [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Intellectual disability, mild [HPO term]
- Limb hypertonia [HPO term]
- Nystagmus [HPO term]
- Oculogyric crisis [HPO term]
- Parkinsonism [HPO term]
ORDO concept(s)
- Hyperphenylalaninemia due to DNAJC12 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mild Non-BH4-Deficient Hyperphenylalaninemia [NCIt concept]

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