IEMbase 0588: DNAJC12-related hyperphenylalaninemia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 588 |
| Nosology | 23.1.08.02 |
| Gene | DNAJC12 |
| External IDs | OMIM:606060 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Disorder_of_Catecholamine_Synthesis.yaml#DNAJC12-related monoamine synthesis disorder |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents DNAJC12-related hyperphenylalaninemia. The record is autosomal recessive, classified under monoamine neurotransmission, has unknown treatability, and lists 5-hydroxytryptophan, BH4, and L-dopa plus carbidopa.
Biochemical rows include increased plasma phenylalanine, decreased CSF 5-HIAA, decreased CSF HVA, normal-to-increased CSF biopterin, normal DBS and urinary biopterin, and normal CSF, DBS, and urinary neopterin. Clinical rows include autism and dystonia.
DisMech phenotype coverage
Disorder_of_Catecholamine_Synthesis.yaml contains the correct local target as
the DNAJC12-related monoamine synthesis disorder subtype. It models DNAJC12
pathogenic variants, monoamine-synthesis co-chaperone dysfunction,
hyperphenylalaninemia, combined monoamine deficiency, infantile dystonia,
developmental delay, cognitive deficits, and young-onset parkinsonism.
Phenylketonuria.yaml and Tetrahydrobiopterin_Deficiency.yaml are useful
context for hyperphenylalaninemia and monoamine metabolism, but the exact local
coverage is the DNAJC12 subtype in the catecholamine-synthesis umbrella.
Concordance and completeness
Judgement: generated false negative; resolve to
Disorder_of_Catecholamine_Synthesis.yaml#DNAJC12-related monoamine synthesis disorder.
IEMbase and DisMech agree on DNAJC12, autosomal recessive disease, hyperphenylalaninemia, monoamine-synthesis dysfunction, and dystonia. IEMbase adds a useful diagnostic pattern: low CSF HVA/5-HIAA with normal or only variably increased pterin markers, plus treatment prompts for BH4, 5-hydroxytryptophan, and L-dopa/carbidopa. IEMbase also adds autism as a clinical review prompt.
Curation actions
- Promote this record to
Disorder_of_Catecholamine_Synthesis.yaml#DNAJC12-related monoamine synthesis disorder. - Preserve the low CSF HVA/5-HIAA, pterin-normality, treatment, autism, and dystonia prompts for source-level review.
- Do not map this record to PAH-related PKU or primary BH4 enzyme deficiency as the exact disease target.