Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Synonyms: KPNA7-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | KPNA7-related neurodevelopmental disorder |
| fr | Syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure | Trouble du neurodéveloppement associé à KPNA7 |
| de | Syndrom der partiellen Corpus callosum-Agenesie mit zerebellärer Vermishypoplasie und Zysten der hinteren Schädelgrube | KPNA7-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de agenesia parcial del cuerpo calloso-hipoplasia del vermis cerebeloso con quistes de la fosa posterior | Trastorno del neurodesarrollo asociado al gen KPNA7 |
| it | Sindrome agenesia parziale del corpo calloso-ipoplasia del verme cerebellare con cisti della fossa posteriore | Malattia del neurosviluppo correlata a KPNA7 |
| nl | Partiële agenesie van corpus callosum - hypoplasie van vermis cerebelli met cysten in fossa cranialis posterior-syndroom | KPNA7-gerelateerde neurologische ontwikkelingsstoornis · Partiële agenesie van corpus callosum - hypoplasie van vermis cerebelli met cysten in achterste schedelgroeve-syndroom |
| pt | Síndrome de agenesia do corpo caloso parcial-hipoplasia do vermis cerebeloso com quistos da fossa posterior | |
| pl | Zespół częściowej agenezji ciała modzelowatego, hipoplazji robaka móżdżku z torbielami tylnego dołu czaszki | = en |
| cs | Syndrom zahrnující parciální agenezi corpus callosum a hypoplázii vermis mozečku s cystami ve fossa posterior | = en |
| uk | Синдром часткової агенезії мозолистого тіла-гіпоплазії червяка мозочка з кістами задньої черепної ямки | |
| zh | 部分胼胝体发育不全-小脑蚓部发育不全伴后颅窝囊肿综合征 | |
| tr | Posterior fossa kist sendromu ile seyden kısmi korpus kallozum agenezi-serebellar vermis hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0018430 | E | validated | |
| UMLS | C4750913 | 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 (5):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:730406Genetic syndrome with a posterior fossa cystic malformation as a major feature
rare genetic diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:729566Syndrome with a posterior fossa cystic malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KPNA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:21839 | ENSG00000185467 | 614107 | 7q22.1 | karyopherin subunit alpha 7 | 24045845[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24045845[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24045845[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401959
- This record as JSON: /data/d/401959.json