Pontocerebellar hypoplasia type 17
Synonyms: PCH17 · PRDM13-related pontocerebellar hypoplasia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare subtype of pontocerebellar hypoplasia characterized by global developmental delay, motor impairment, axial hypotonia and distal hypotonia as well as severe brainstem dysfunctions (feeding and respiratory difficulties, central apnea, bradycardia). Other variable clinical features can include ophtalmological, cardiac and gastrointestinal anomalies, facial dysmorphism and epilepsy. This subtype is associated with perinatal lethality. Brain imaging usually shows cerebellar hypoplasia together with brainstem hypoplasia.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 17 | PCH17 · PRDM13-related pontocerebellar hypoplasia |
| fr | Hypoplasie pontocérébelleuse type 17 | HPC17 · Hypoplasie pontocérébelleuse associée à PRDM13 |
| de | Pontozerebelläre Hypoplasie Typ 17 | PCH17 · PRDM13-assoziierte pontozerebelläre Hypoplasie |
| es | Hipoplasia pontocerebelosa tipo 17 | HPC17 · Hipoplasia pontocerebelosa asociada al gen PRDM13 · PCH17 |
| it | Ipoplasia pontocerebellare tipo 17 | PCH17 · Ipoplasia pontocerebellare correlata a PRDM13 |
| nl | Pontocerebellaire hypoplasie type 17 | PCH17 · PRDM13-gerelateerde pontocerebellaire hypoplasie |
| pt | Pontocerebellar hypoplasia type 17 | |
| pl | Pontocerebellar hypoplasia type 17 | = en |
| cs | Pontocerebellar hypoplasia type 17 | = en |
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619909 | 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 |
|---|---|---|---|---|---|---|---|---|
| PRDM13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13998 | ENSG00000112238 | 616741 | 6q16.2 | PR/SET domain 13 | 35390279[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728521
- This record as JSON: /data/d/728521.json