Pontocerebellar hypoplasia type 9
Synonyms: PCH9
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 9 | PCH9 |
| fr | Hypoplasie pontocérébelleuse type 9 | = en |
| de | Pontozerebelläre Hypoplasie Typ 9 | = en |
| es | Hipoplasia pontocerebelosa tipo 9 | HPC9 |
| it | Ipoplasia pontocerebellare, tipo 9 | = en |
| nl | Pontocerebellaire hypoplasie type 9 | = en |
| pt | Hipoplasia pontocerebelosa tipo 9 | |
| pl | Hipoplazja mostowo-móżdżkowa typu 9 | = en |
| cs | Pontocerebelární hypoplázie, typ 9 | = en |
| uk | Понтоцеребеллярна гіпоплазія, тип 9 | = en |
| zh | 桥脑小脑发育不全9型 | = en |
| tr | Pontoserebellar hipoplazi tip 9 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615809 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0014351 | E | validated | |
| UMLS | C4014354 | 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:98523Pontocerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMPD2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:469 | ENSG00000116337 | 102771 | 1p13.3 | adenosine monophosphate deaminase 2 | 23911318[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 28815207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28815207[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/369920
- This record as JSON: /data/d/369920.json