Dihydropteridine reductase deficiency
Synonyms: Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2 · Phenylketonuria type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dihydropteridine reductase deficiency | Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2 · Phenylketonuria type 2 |
| fr | Déficit en dihydroptéridine réductase | Hyperphénylalaninémie par déficit en dihydroptéridine réductase · Phénylcétonurie type 2 |
| de | Dihydropteridinreduktase-Mangel | DHPR-Mangel · Hyperphenylalaninämie durch Dihydropteridinreduktase-Mangel · PKU Typ 2 · Phenylketonurie Typ 2 |
| es | Deficiencia de dihidropteridina reductasa | |
| it | Deficit di diidropteridina reduttasi | Fenilchetonuria, tipo 2 · Iperfenilalaninemia da deficit di diidropteridina |
| nl | Deficiëntie van dihydrobiopteridinereductase | Fenylketonurie type 2 · Hyperfenylalaninemie door deficiëntie van dihydropteridinereductase · PKU type 2 |
| pt | Deficiência de diidropteridina redutase | Fenilcetonúria tipo 2 · Hiperfenilalaninemia por deficiência de diidropteridina redutase |
| pl | Niedobór reduktazy dihydropterydyny | Fenyloketonuria typu 2 · Hiperfenyloalaninemia spowodowana niedoborem reduktazy dihydropterydyny · PKU typu 2 |
| cs | Deficit dihydropteridin reduktázy | PKU typ 2 · Fenylketonurie, typ 2 · Hyperfenylalaninémie způsobená deficitem dihydropteridin reduktázy |
| uk | Дефіцит дигідроптеридинредуктази | Гіперфенілаланінемія внаслідок дефіциту дигідроптеридинредуктази · Фенілкетонурія типу 2 · PKU тип 2 |
| zh | 二氢蝶啶还原酶缺乏症 | 二氢蝶啶还原酶缺乏所致高苯丙氨酸血症 |
| tr | Dihidropteridin redüktaz eksikliği | PKU tip 2 · Fenilketonüri tip 2 · Dihidropteridin redüktaz eksikliğine bağlı hiperfenilalaninemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261630 | E | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0009862 | E | validated | |
| UMLS | C0268465 | E | validated | |
| GARD | 4319 | 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 (1):
- ORPHA:238583Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| QDPR | Disease-causing germline mutation(s) in | Assessed | HGNC:9752 | ENSG00000151552 | 612676 | 4p15.32 | quinoid dihydropteridine reductase | 9744478[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 14705166[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/226
- This record as JSON: /data/d/226.json