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hyperphenylalaninemia due to DNAJC12 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperphenylalaninemia due to DNAJC12 deficiency

MONDO:0044304

Also known as:HPANBH4hyperphenylalaninemia, mild, non-BH4-deficient

Overview

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}).

GeneticsAutosomal recessive · DNAJC12 (chr 10)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Mild intellectual disability, Delayed speech and language development, Dystonia, and Global developmental delay; and sometimes findings: Axial hypotonia, Parkinsonism, Oculogyric crisis, and Nystagmus and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Broad-based gait, Mild intellectual disability, Delayed speech and language development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DNAJC12 encodes DnaJ heat shock protein family (Hsp40) member C12 (198 aa). Probable co-chaperone that participates in the proper folding of biopterin-dependent aromatic amino acid hydroxylases, which include phenylalanine-4-hydroxylase (PAH), tyrosine 3-monooxygenase (TH) an... Highest expression in Brain Cerebellar Hemisphere (94.7 TPM) and Brain Cerebellum (68.8 TPM).

Hyperphenylalaninemia due to DNAJC12 deficiency is caused by mutations in the DNAJC12 gene on chromosome 10.

The DNAJC12 protein participates in CREB3L4 translocates from the cytosol to the nucleus pathway.

DNAJC12 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAJC12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperphenylalaninemia due to DNAJC12 deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperphenylalaninemia due to DNAJC12 deficiency.

34 publications have been identified in PubMed for hyperphenylalaninemia due to DNAJC12 deficiency. Kisho has analyzed 25 by research type. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (20%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Disease patterns and progression	10	40%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617384

Orphanet

European rare disease database

Orphanet:508523

GARD

Genetic and Rare Diseases Info Center

GARD:17950

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperphenylalaninemia due to DNAJC12 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyperphenylalaninemia due to DNAJC12 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications