Pontocerebellar hypoplasia type 16
Synonyms: MINPP1-related pontocerebellar hypoplasia · PCH16
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare subtype of pontocerebellar hypoplasia (PCH) characterized by an almost complete absence of motor and cognitive development, microcephaly, epilepsy, spastic tetraplegia, vision impairment, extrapyramidal movements, and stereotypies. Brain imaging is distinct from other PCH subtypes and consists of mild-to-severe PCH, ventriculomegaly, thin corpus callosum and hypoplasia and T2-weighted hyperintensity of the basal ganglia and thalamus.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 16 | MINPP1-related pontocerebellar hypoplasia · PCH16 |
| fr | Hypoplasie pontocérébelleuse type 16 | Hypoplasie pontocérébelleuse associée à MINPP1 · HPC16 |
| de | Pontozerebelläre Hypoplasie Typ 16 | PCH16 · MINPP1-assoziierte pontozerebelläre Hypoplasie |
| es | Hipoplasia pontocerebelosa tipo 16 | HPC16 · Hipoplasia pontocerebelosa asociada al gen MINPP1 · PCH16 |
| it | Ipoplasia pontocerebellare tipo 16 | Ipoplasia pontocerebellare correlata a MINPP1 · PCH16 |
| nl | Pontocerebellaire hypoplasie type 16 | PCH16 · MINPP1-gerelateerde pontocerebellaire hypoplasie |
| pt | Pontocerebellar hypoplasia type 16 | |
| pl | Pontocerebellar hypoplasia type 16 | = en |
| cs | Pontocerebellar hypoplasia type 16 | = en |
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619527 | 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 |
|---|---|---|---|---|---|---|---|---|
| MINPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7102 | ENSG00000107789 | 605391 | 10q23.2 | multiple inositol-polyphosphate phosphatase 1 | 33168985[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/728514
- This record as JSON: /data/d/728514.json