IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | |
| fr | Syndrome de régression neurodéveloppementale-dystonie-épilepsie lié à IRF2BPL | |
| de | IRF2BPL-assoziierte regressive neurologische Entwicklungsstörung-Dystonie-Krampfanfälle-Syndrom | NEDAMSS |
| es | Síndrome de trastorno del neurodesarrollo regresivo-distonía-crisis asociado a IRF2BPL | |
| it | Sindrome da regressione del neurosviluppo, distonia e crisi epilettiche correlata a IRF2BPL | |
| nl | IRF2BPL-gerelateerd syndroom van regressieve neurologische ontwikkelingsstoornis - dystonie - insulten | |
| pt | Síndrome de regressão do neurodesenvolvimento-distonia-convulsões IRF2BPL-relacionada | |
| pl | Zespół regresywnego zaburzenia neurorozwojowego, dystonii, napadów drgawkowych związany z IRF2BPL | |
| cs | Syndrom zahrnující regresivní neurovývojovou poruchu související s IRF2BPL, dystonii a záchvaty | |
| uk | IRF2BPL-повязаний синдром регресу нейророзвитку-дистонії-судом | |
| zh | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | |
| tr | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618088 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0060759 | E | validated | |
| UMLS | C5681583 | 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:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF2BPL | Disease-causing germline mutation(s) in | Assessed | HGNC:14282 | ENSG00000119669 | 611720 | 14q24.3 | interferon regulatory factor 2 binding protein like | 30057031[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 31432588[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31432588[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597623
- This record as JSON: /data/d/597623.json