ORPHA:2209
Maternal phenylketonuria syndrome
Synonyms: Hyperphenylalaninemic embryopathy · Maternal PKU syndrome · Maternal hyperphenylalaninemia · Phenylketonuric embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal phenylketonuria syndrome | Hyperphenylalaninemic embryopathy · Maternal PKU syndrome · Maternal hyperphenylalaninemia · Phenylketonuric embryopathy |
| fr | Syndrome de phénylcétonurie maternelle | Embryopathie hyperphénylalaninémique · Embryopathie phénylcétonurique · Hyperphénylalaninémie maternelle · Syndrome de PCU maternelle |
| de | Phenylketonurie, maternale | Embryopathie, phenylketonurische · Hyperphenylalanin-Embryopathie · Hyperphenylalaninämie, maternale · PKU, maternale · Phenylalanin-Embryopathie |
| es | Síndrome de fenilcetonuria materna | Embriopatía fenilcetonúrica · Embriopatía hiperfenilalaninémica · Hiperfenilalaninemia materna |
| it | Sindrome fenilchetonuria materna | Sindrome PKU materna · Embriopatia da iperfenilalaninemia · Embriopatia fenilchetonurica · Iperfenilalaninemia materna · PKU materna |
| nl | Maternale fenylketonurie-syndroom | Fenylketonurische embryopathie · Hyperfenylalaninemische embryopathie · Maternale PKU-syndroom · Maternale hyperfenylalaninemie |
| pt | Fenilcetonúria materna | Embriopatia fenilcetonúrica · Embriopatia hiperfenilalaninémica · Hiperfenilalaninemia materna |
| pl | Fenyloketonuria matczyna | Embriopatia fenyloketonowa · Embriopatia hiperfenyloalaninowa · Hiperfenyloalaninemia matczyna · PKU matczyna |
| cs | Maternální fenylketonurie | Hyperfenylalaninemická embryopatie · Maternální PKU · Maternální hyperfenylalaninemie · Fenylketonurická embryopatie |
| uk | Материнська фенілкетонурія | Гіперфенілаланінемічна ембріопатія · Материнська гіперфенілаланінемія · Материнська ПКУ · Фенілкетонурична ембріопатія |
| zh | 母体苯丙酮尿症 | 高苯丙酮尿酸血症型胚胎病 |
| tr | Maternal fenilketonüri | Maternal PKU · Fenilketonürik embriyopati · Maternal hiperfenilalaninemi · Hiperfenilalaninemik embriyopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | NTBT | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.02 | E | specific | validated |
| MONDO | 0016366 | E | validated | |
| MeSH | D017042 | E | validated | |
| UMLS | C0085547 | E | validated | |
| GARD | 3413 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:251535Maternal disease-related embryofetopathy
rare developmental anomalies during embryogenesis; rare teratologic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:708881Phenylalanine hydroxylase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAH | Disease-causing germline mutation(s) in | Assessed | HGNC:8582 | ENSG00000171759 | 612349 | 12q23.2 | phenylalanine hydroxylase | 1915502[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Annual incidence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2019-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001263 | Global developmental delay | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0000218 | High palate | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
| Very rare (<4-1%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0009611 | Bifid distal phalanx of the thumb | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002836 | Bladder exstrophy | |
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0004411 | Deviated nasal septum | |
| HP:0000286 | Epicanthus | |
| HP:0002032 | Esophageal atresia | |
| HP:0008589 | Hypoplastic helices | |
| HP:0000601 | Hypotelorism | |
| HP:0000340 | Sloping forehead | |
| HP:0000486 | Strabismus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22205310[PMID]_14654657[PMID]_30244725[PMID]_11328945[PMID]_10636975[PMID]_9066890[PMID]_8648535[PMID]_1481837[PMID]_1915502[PMID]_5391176[PMID]_4968669[PMID]_23784316[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2209
- This record as JSON: /data/d/2209.json