Pontocerebellar hypoplasia type 8
Synonyms: PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 8 | PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation |
| fr | Hypoplasie pontocérébelleuse type 8 | HPC8 · Hypoplasie pontocérébelleuse due à une mutation du gène CHMP1A |
| de | Pontozerebelläre Hypoplasie Typ 8 | PCH8 · Pontozerebelläre Hypoplasie durch CHMP1A-Genmutation |
| es | Hipoplasia pontocerebelosa tipo 8 | HPC8 · Hipoplasia pontocerebelosa por una mutación en el gen CHMP1A |
| it | Ipoplasia pontocerebellare, tipo 8 | Ipoplasia pontocerebellare da mutazione del gene CHMP1A · PCH8 |
| nl | Pontocerebellaire hypoplasie type 8 | PCH8 · Pontocerebellaire hypoplasie als gevolg van CHMP1A-mutatie |
| pt | Hipoplasia pontocerebelosa tipo 8 | |
| pl | Hipoplazja mostowo-móżdżkowa typu 8 | Hipoplazja mostowo-móżdżkowa z powodu mutacji CHMP1A · PCH8 |
| cs | Pontocerebelární hypoplázie, typ 8 | PCH8 · Pontocerebelární hypoplázie způsobená CHMP1A mutací |
| uk | Гіпоплазія мозочка, тип 8 | PCH8 · Гіпоплазія мозочка внаслідок мутації CHMP1A |
| zh | 脑桥小脑发育不全8型 | CHMP1基因突变所致脑桥小脑发育不全 |
| tr | Pontoserebellar hipoplazi tip 8 | PCH8 · CHMP1A mutasyonuna bağlı pontoserebellar hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614961 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0013990 | E | validated | |
| UMLS | C3554209 | 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 |
|---|---|---|---|---|---|---|---|---|
| CHMP1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8740 | ENSG00000131165 | 164010 | 16q24.3 | charged multivesicular body protein 1A | 23023333[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23023333[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/324569
- This record as JSON: /data/d/324569.json