Pontocerebellar hypoplasia type 12
Synonyms: COASY-related pontocerebellar hypoplasia · PCH12
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 12 | COASY-related pontocerebellar hypoplasia · PCH12 |
| fr | Hypoplasie pontocérébelleuse type 12 | HPC12 · Hypoplasie pontocérébelleuse due à une mutation du gène COASY · PCH12 |
| de | Pontozerebelläre Hypoplasie Typ 12 | COASY-assoziierte pontozerebelläre Hypoplasie · PCH12 |
| es | Hipoplasia pontocerebelosa tipo 12 | HPC12 · Hipoplasia pontocerebelosa por una mutación en el gen COASY |
| it | Ipoplasia pontocerebellare tipo 12 | Ipoplasia pontocerebellare correlata a COASY · PCH12 |
| nl | Pontocerebellaire hypoplasie type 12 | COASY-gerelateerde pontocerebellaire hypoplasie · PCH12 |
| pt | Hipoplasia pontocerebelosa tipo 12 | Hipoplasia pontocerebelosa COASY-relacionada · PCH12 |
| pl | Hipoplazja mostowo-móżdżkowa typu 12 | = en |
| cs | Pontocerebelární hypoplázie, typ 12 | = en |
| uk | Гіпоплазія мозочка, тип 12 | Гіпоплазія мозочка, повязана з COASY · PCH12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618266 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | attributed | validated |
| MONDO | 0032643 | E | validated | |
| UMLS | C4748873 | 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 (2):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| COASY | Disease-causing germline mutation(s) in | Assessed | HGNC:29932 | ENSG00000068120 | 609855 | 17q21.2 | Coenzyme A synthase | 30089828[PMID]_36495139[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30089828[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30089828[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/611256
- This record as JSON: /data/d/611256.json