Pontocerebellar hypoplasia type 14
Synonyms: PCH14
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 14 | PCH14 |
| fr | Hypoplasie pontocérébelleuse type 14 | HPC14 · PCH14 |
| de | Pontozerebelläre Hypoplasie Typ 14 | = en |
| es | Hipoplasia pontocerebelosa tipo 14 | PCH14 · HPC14 |
| it | Ipoplasia pontocerebellare tipo 14 | = en |
| nl | Pontocerebellaire hypoplasie type 14 | = en |
| pt | Hipoplasia pontocerebelosa tipo 14 | = en |
| pl | Hipoplazja mostowo-móżdżkowa typu 14 | = en |
| cs | Pontocerebelární hypoplázie, typ 14 | = en |
| uk | Гіпоплазія мозочка, тип 14 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619301 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | attributed | validated |
| MONDO | 0030258 | E | validated | |
| UMLS | C5543322 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98523Pontocerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 33220177[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33220177[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/613274
- This record as JSON: /data/d/613274.json