Hyperphenylalaninemia due to DNAJC12 deficiency
Synonyms: Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperphenylalaninemia due to DNAJC12 deficiency | Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia |
| fr | Hyperphénylalaninémie par déficit en DNAJC12 | Hyperphénylalaninémie non-phénylcétonurique-non-déficit en BH4 |
| de | Hyperphenylalaninämie durch DNAJC12-Mangel | Nicht-phenylketonurische Hyperphenylalaninämie ohne BH4-Mangel |
| es | Hiperfenilalaninemia por deficiencia de DNAJC12 | Hiperfenilalaninemia no fenilcetonúrica sin deficiencia de BH4 |
| it | Iperfenilalaninemia da deficit di DNAJC12 | Iperfenilalaninemia non-fenilchetonurica non correlata a deficit di BH4 |
| nl | Hyperfenylalaninemie door DNAJC12-deficiëntie | Niet-fenylketonurische hyperfenylalaninemie zonder BH4-deficiëntie |
| pt | Hiperfenilalaninemia por deficiência de DNAJC12 | Hiperfenilalaninemia não-fenilcetonúrica sem deficiência de BH4 |
| pl | Hiperfenylalaninemia spowodowana niedoborem DNAJC12 | Hiperfenylalaninemia inna niż fenyloketonuria i niedobór BH4 |
| cs | Hyperfenylalaninemie způsobená deficitem DNAJC12 | Hyperfenylalaninemie - nonfenylketonurická a non-BH4-deficitní |
| uk | Гіперфенілаланінемія, зумовлена дефіцитом DNAJC12 | Нефенілкетонурична не-BH4-дефіцитна гіперфенілаланінемія |
| zh | DNAJC12基因缺陷导致高苯丙氨酸血症 | 非苯丙酮尿症性非BH4缺乏性高苯丙氨酸血症 |
| tr | DNAJC12 eksikliğine bağlı hiperfenilalaninemi | Fenilketonürik olmayan BH4 eksikliği olmayan hiperfenilalaninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617384 | E | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | attributed | validated |
| MONDO | 0044304 | E | validated | |
| UMLS | C5567900 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309819Disorder of pterin metabolism
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC12 | Disease-causing germline mutation(s) in | Assessed | HGNC:28908 | ENSG00000108176 | 606060 | 10q21.3 | DnaJ heat shock protein family (Hsp40) member C12 | 28132689[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28132689[PMID] |
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 28132689[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508523
- This record as JSON: /data/d/508523.json