ORPHA:717884
Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome
Synonyms: PAK1-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome | PAK1-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-macrocéphalie acquise-ataxia-convulsions fébriles | Trouble du neurodéveloppement associé à PAK1 |
| de | Globale Entwicklungsverzögerung-erworbene Makrozephalie-Ataxie-Fieberkrämpfe-Syndrom | PAK1-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-macrocefalia adquirida-ataxia-convulsiones febriles | Trastorno del neurodesarrollo asociado a PAK1 |
| it | Sindrome ritardo dello sviluppo globale-macrocefalia acquisita-atassia-convulsioni febbrili | Malattia del neurosviluppo correlata a PAK1 |
| nl | Algehele ontwikkelingsachterstand - verworven macrocefalie - ataxie - febriele insulten-syndroom | PAK1-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome | |
| pl | Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome | = en |
| cs | Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618158 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8590 | ENSG00000149269 | 602590 | 11q13.5-q14.1 | p21 (RAC1) activated kinase 1 | 37820543[PMID]_36905087[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/717884
- This record as JSON: /data/d/717884.json