Pontocerebellar hypoplasia type 4
Synonyms: Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia · PCH4
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 4 | Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia · PCH4 |
| fr | Hypoplasie pontocérébelleuse type 4 | Encéphalopathie fatale infantile avec hypoplasie olivopontocérébelleuse · HPC4 · Hypoplasie olivopontocérébelleuse |
| de | Pontozerebelläre Hypoplasie Typ 4 | Fatale infantile Enzephalopathie mit olivopontozerebellärer Hypoplasie · Olivopontozerebellärer Hypoplasie · PCH4 |
| es | Hipoplasia pontocerebelosa tipo 4 | Encefalopatía letal del lactante con hipoplasia olivopontocerebelosa · HPC4 · Hipoplasia olivopontocerebelosa |
| it | Ipoplasia pontocerebellare, tipo 4 | Encefalopatia infantile fatale con ipoplasia olivo-ponto-cerebellare · Ipoplasia olivo-ponto-cerebellare · PCH4 |
| nl | Pontocerebellaire hypoplasie type 4 | Fatale infantiele encefalopathie met olivopontocerebellaire hypoplasie · Olivopontocerebellaire hypoplasie · PCH4 |
| pt | Hipoplasia pontocerebelosa tipo 4 | |
| pl | Hipoplazja mostowo-móżdżkowa typu 4 | Hipoplazja oliwkowo-mostowo-móżdżkowa · PCH4 · Śmiertelna niemowlęca encefalopatia z hipoplazją oliwkowo-mostowo-móżdżkową |
| cs | Pontocerebelární hypoplázie, typ 4 | Fatální infantilní encefalopatie s olivopontocerebelární hypoplázií · Olivopontocerebelární hypoplázie · PCH4 |
| uk | Понтоцеребеллярна гіпоплазія тип 4 | Фатальна дитяча енцефалопатія з гіпоплазією оливопонтоцеребеллярного типу · Оливопонтомозочкова гіпоплазія · PCH4 |
| zh | 桥脑小脑发育不全4型 | 致命性婴儿脑病伴橄榄体脑桥小脑发育不良 |
| tr | Pontoserebellar hipoplazi tip 4 | PCH4 · Olivopontoserebellar hipoplazi · Olivopontoserebellar hipoplazili letal infantil ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225753 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | index | validated |
| MONDO | 0009166 | E | validated | |
| MeSH | C536716 | E | validated | |
| UMLS | C1856974 | E | validated | |
| GARD | 343 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:166068Pontocerebellar hypoplasia type 5 moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSEN54 | Disease-causing germline mutation(s) in | Assessed | HGNC:27561 | ENSG00000182173 | 608755 | 17q25.1 | tRNA splicing endonuclease subunit 54 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20952379[PMID] |
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
14 annotations · validated 2019-08-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0002871 | Central apnea | |
| HP:0001276 | Hypertonia | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0001336 | Myoclonus | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0001561 | Polyhydramnios | |
| HP:0011451 | Primary microcephaly | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000340 | Sloping forehead | |
Annotation source: 20952379[PMID]_21824568[PMID]_20301773[PMID]_20956791[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166063
- This record as JSON: /data/d/166063.json