Details of Disease | DrugMAP

General Information of Disease (ID: DIS7CYDN)

Disease Name	Hyperphenylalaninemia due to DNAJC12 deficiency
Synonyms	hyperphenylalaninemia, mild, non-BH4-deficient; HPANBH4; hyperphenylalaninemia due to DNAJC12 deficiency
Definition	Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).
Disease Hierarchy	DISFWXCM: Inborn disorder of amino acid metabolism DISCPWH9: Autosomal recessive disease DIS7CYDN: Hyperphenylalaninemia due to DNAJC12 deficiency
Disease Identifiers	MONDO ID MONDO_0044304 UMLS CUI C4479270 OMIM ID 617384 MedGen ID 1391882 Orphanet ID 508523

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJC12	OTNU59PT	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.