ORPHA:314655
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Synonyms: 5q31.3 microdeletion syndrome · Del(5)(q31.3) · Monosomy 5q31.3
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | 5q31.3 microdeletion syndrome · Del(5)(q31.3) · Monosomy 5q31.3 |
| fr | Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale dû à une microdélétion 5q31.3 | Del(5)(q31.3) · Monosomie 5q31.3 · Syndrome de microdélétion 5q31.3 |
| de | Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Mikrodeletion 5q31.3 | Del(5)(q31.3) · Mikrodeletionssyndrom 5q31.3 · Monosomie 5q31.3 |
| es | Síndrome de hipotonía-crisis-encefalopatía neonatal grave por microdeleción 5q31.3 | Del(5)(q31.3) · Monosomía 5q31.3 · Síndrome de microdeleción 5q31.3 |
| it | Sindrome ipotonia neonatale grave-epilessia-encefalopatia, da microdelezione 5q31.3 | Del(5)(q31.3) · Monosomia 5q31.3 · Sindrome da microdelezione 5q31.3 |
| nl | Ernstige neonatale hypotonie - insulten - encefalopathie-syndroom door 5q31.3-microdeletie | 5q31.3-microdeletiesyndroom · Del(5)(q31.3) · Monosomie 5q31.3 |
| pt | Síndrome de hipotonia neonatal grave-convulsões-encefalopatia por microdeleção 5q31.3 | Del(5)(q31.3) · Monossomia 5q31.3 |
| pl | Ciężka hipotonia noworodków-napady padaczkowe-encefalopatia spowodowane mikrodelecją 5q31.3 | Del(5)(q31.3) · Monosomia 5q31.3 · Zespół mikrodelecji 5q31.3 |
| cs | Mikrodeleční syndrom 5q31.3 zahrnující těžkou novorozeneckou hypotonii, záchvaty a encefalopatii | Del(5)(q31.3) · Monozomie 5q31.3 · Mikrodeleční syndrom 5q31.3 |
| uk | Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії. зумовлений мікроделецією 5q31.3 | Синдром мікроделеції 5q31.3 · Del(5)(q31.3) · Моносомія 5q31.3 |
| zh | 5q31.3微缺失所致重型新生儿低张力-惊厥-脑病综合征 | 5q31.3微缺失综合征 |
| tr | 5q31.3 mikrodelesyonuna bağlı ağır Yenidoğan hipotoni-nöbetler-ensefalopati sendromu | Del(5)(q31.3) · Monozomi 5q31.3 · 5q31.3 mikrodelesyon sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616158 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017811 | E | validated | |
| UMLS | C4708510 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:438213PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:262038Partial deletion of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PURA | Role in the phenotype of | Assessed | HGNC:9701 | ENSG00000185129 | 600473 | 5q31.3 | purine rich element binding protein A | 23950017[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23950017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23950017[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.
6
HPO phenotypes
37 annotations · validated 2020-11-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012444 | Brain atrophy | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002002 | Deep philtrum | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002353 | EEG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000218 | High palate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000341 | Narrow forehead | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000508 | Ptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0000506 | Telecanthus | |
| HP:0010804 | Tented upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0002104 | Apnea | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011097 | Epileptic spasm | |
| HP:0011167 | Focal tonic seizure | |
| HP:0002791 | Hypoventilation | |
| HP:0000369 | Low-set ears | |
| HP:0001336 | Myoclonus | |
| HP:0010442 | Polydactyly | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0001250 | Seizure | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003196 | Short nose | |
| HP:0011098 | Speech apraxia | |
Annotation source: 22711443[PMID]_28448108[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314655
- This record as JSON: /data/d/314655.json