ORPHA:438213
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| fr | Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale associé à PURA | |
| de | PURA-abhängige schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom | |
| es | Síndrome neonatal de hipotonía-crisis-encefalopatía grave asociado a PURA | |
| it | Sindrome ipotonia neonatale grave-crisi epilettiche-encefalopatia correlata a PURA | |
| nl | PURA-gerelateerde ernstige neonatale hypotonie - insulten - encefalopathie-syndroom | |
| pt | Síndrome de hipotonia neonatal grave-convulsões-encefalopatia PURA-relacionada | |
| pl | Zespół ciężkiej hipotonii noworodkowej, napadów padaczkowych i encefalopatii zależny od PURA | |
| cs | Syndrom zahrnující PURA-vázanou těžkou neonatální hypotonii, záchvaty a encefalopatii | |
| uk | Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії, повязаний з PURA | |
| zh | PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征 | |
| tr | PURA-ilişkili ağır Yenidoğan hipotoni-nöbetler-ensefalopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616158 | BTNT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0018580 | E | validated | |
| MONDO | 1060108 | E | validated | |
| MONDO | 18580 | E | validated | |
| UMLS | C4708498 | E | validated | |
| MedDRA | 10085882 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PURA | ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:9701 | ENSG00000185129 | 600473 | 5q31.3 | purine rich element binding protein A | 25342064[PMID] |
| PURA | ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | Role in the phenotype of | Assessed | HGNC:9701 | ENSG00000185129 | 600473 | 5q31.3 | purine rich element binding protein A | 23950017[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 27148565[PMID]_25533962[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27148565[PMID]_25533962[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.
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HPO phenotypes
86 annotations · validated 2020-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0002136 | Broad-based gait | |
| HP:0010862 | Delayed fine motor development | |
| HP:0008947 | Floppy infant | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| Frequent (79-30%) | ||
| HP:0000549 | Abnormal conjugate eye movement | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0002104 | Apnea | |
| HP:0005957 | Breathing dysregulation | |
| HP:0010536 | Central sleep apnea | |
| HP:0002019 | Constipation | |
| HP:0002307 | Drooling | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0002267 | Exaggerated startle response | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0011968 | Feeding difficulties | |
| HP:0002045 | Hypothermia | |
| HP:0002791 | Hypoventilation | |
| HP:0002540 | Inability to walk | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0001270 | Motor delay | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0010863 | Receptive language delay | |
| HP:0100247 | Recurrent singultus | |
| HP:0001250 | Seizure | |
| HP:0000977 | Soft skin | |
| HP:0012171 | Stereotypical hand wringing | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0031622 | Brown anomaly | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002002 | Deep philtrum | |
| HP:0012448 | Delayed myelination | |
| HP:0002015 | Dysphagia | |
| HP:0011097 | Epileptic spasm | |
| HP:0000565 | Esotropia | |
| HP:0007655 | Eversion of lateral third of lower eyelids | |
| HP:0025313 | Exophoria | |
| HP:0000293 | Full cheeks | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0007193 | Generalized tonic-clonic seizures on awakening | |
| HP:0009890 | High anterior hairline | |
| HP:0001385 | Hip dysplasia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0004305 | Involuntary movements | |
| HP:0001382 | Joint hypermobility | |
| HP:0001336 | Myoclonus | |
| HP:0002058 | Myopathic facies | |
| HP:0000639 | Nystagmus | |
| HP:0000939 | Osteoporosis | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0012704 | Widened subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0011747 | Abnormality of the anterior pituitary | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001903 | Anemia | |
| HP:0031253 | Anomalous origin of left subclavian artery | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0000028 | Cryptorchidism | |
| HP:0040303 | Decreased serum iron | |
| HP:0000126 | Hydronephrosis | |
| HP:0000821 | Hypothyroidism | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000543 | Optic disc pallor | |
| HP:0000938 | Osteopenia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000826 | Precocious puberty | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0000139 | Uterine prolapse | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29097605[PMID]_28448108[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438213
- This record as JSON: /data/d/438213.json