ORPHA:438216

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
fr	Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale associé à PURA dû à une mutation ponctuelle
de	Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Punktmutationen im PURA-Gen
es	Síndrome neonatal de hipotonía-crisis-encefalopatía grave asociado a PURA por una mutación puntual
it	Sindrome correlata mutazioni puntiformi di PURA con encefalopatia- crisi epilettiche-ipotonia neonatale grave
nl	PURA-gerelateerde ernstige neonatale hypotonie - insulten - encefalopathie-syndroom door een puntmutatie
pt	Síndrome de hipotonia neonatal grave-convulsões-encefalopatia PURA-relacionada devida a mutação pontual
pl	Zespół ciężkiej hipotonii noworodkowej, napadów padaczkowych i encefalopatii zależny od PURA spowodowany mutacją punktową
cs	PURA-vázaná těžká neonatální hypotonie, záchvaty a encefalopatie způsobené bodovými mutacemi
uk	Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії, повязаний з PURA, спричинений точковою мутацією
zh	点突变所致PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征
tr	Nokta mutasyonuna bağlı PURA-ilişkili ağır yenidoğan hipotoni-nöbetler-ensefalopati sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616158	E		validated
ICD-10	G40.4	NTBT	attributed	validated
MONDO	0014512	E		validated
UMLS	C4015357	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:438213PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PURA	Disease-causing germline mutation(s) in	Assessed	HGNC:9701	ENSG00000185129	600473	5q31.3	purine rich element binding protein A	25342064[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		24 cases	Worldwide	Case(s)	Validated	25533962[PMID]_DOI: 10.1101/mcs.a000356[OTHER]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25533962[PMID]_DOI: 10.1101/mcs.a000356[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

38 annotations · validated 2020-11-12

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0008872	Feeding difficulties in infancy
HP:0001263	Global developmental delay
HP:0002098	Respiratory distress
HP:0001250	Seizure
Frequent (79-30%)
HP:0002058	Myopathic facies
HP:0011344	Severe global developmental delay
Occasional (29-5%)
HP:0000377	Abnormal pinna morphology
HP:0006481	Abnormality of primary teeth
HP:0000463	Anteverted nares
HP:0000739	Anxiety
HP:0001251	Ataxia
HP:0000455	Broad nasal tip
HP:0002136	Broad-based gait
HP:0100660	Dyskinesia
HP:0001332	Dystonia
HP:0000286	Epicanthus
HP:0002267	Exaggerated startle response
HP:0000324	Facial asymmetry
HP:0000297	Facial hypotonia
HP:0002007	Frontal bossing
HP:0000293	Full cheeks
HP:0012899	Handgrip myotonia
HP:0000348	High forehead
HP:0000218	High palate
HP:0011081	Incisor macrodontia
HP:0000276	Long face
HP:0000637	Long palpebral fissure
HP:0000252	Microcephaly
HP:0000545	Myopia
HP:0011220	Prominent forehead
HP:0006829	Severe muscular hypotonia
HP:0000736	Short attention span
HP:0000506	Telecanthus
HP:0010804	Tented upper lip vermilion
HP:0000219	Thin upper lip vermilion
HP:0000430	Underdeveloped nasal alae
HP:0000582	Upslanted palpebral fissure
HP:0000431	Wide nasal bridge

Annotation source: 27148565[PMID]_28448108[PMID]_25439098[PMID]_25342064[PMID]