Pontocerebellar hypoplasia type 6
Synonyms: Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 6 | Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6 |
| fr | Hypoplasie pontocérébelleuse type 6 | Encéphalopathie fatale infantile avec anomalie de la chaîne respiratoire mitochondriale · HPC6 · PCH6 |
| de | Pontozerebelläre Hypoplasie Typ 6 | Fatale infantile Enzephalopathie mit mitochondrialen Atmungskettendefekten · PCH6 |
| es | Hipoplasia pontocerebelosa tipo 6 | Encefalopatía letal del lactante con defectos en la cadena respiratoria mitocondrial · HPC6 |
| it | Ipoplasia pontocerebellare, tipo 6 | Encefalopatia infantile fatale con difetti della catena respiratoria mitocondriale · PCH6 |
| nl | Pontocerebellaire hypoplasie type 6 | Fatale infantiele encefalopathie met mitochondriale ademhalingsketendefecten · PCH6 |
| pt | Hipoplasia pontocerebelosa tipo 6 | Encefalopatia infantil fatal com defeitos na cadeia respiratória mitocondrial |
| pl | Hipoplazja mostowo-móżdżkowa typu 6 | PCH6 · Śmiertelna niemowlęca encefalopatia z defektami mitochondrialnego łańcucha oddechowego |
| cs | Pontocerebelární hypoplázie, typ 6 | PCH6 · Fatální infantilní encefalopatie s mitochondriálními poruchami dýchacího řetězce |
| uk | Понтоцеребеллярна гіпоплазія тип 6 | Летальна дитяча енцефалопатія з дефектами мітохондріального дихального ланцюга · PCH6 |
| zh | 桥脑小脑发育不全6型 | 致命性婴儿脑病伴线粒体呼吸链缺陷 |
| tr | Pontoserebellar hipoplazi tip 6 | PCH6 · Mitokondriyal solunum zinciri kusurları ile seyreden letal infantil ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611523 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | index | validated |
| MONDO | 0012683 | E | validated | |
| MeSH | C548074 | E | validated | |
| UMLS | C1969084 | E | validated | |
| GARD | 10710 | 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:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological 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 |
|---|---|---|---|---|---|---|---|---|
| RARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21406 | ENSG00000146282 | 611524 | 6q15 | arginyl-tRNA synthetase 2, mitochondrial |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 25809939[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25809939[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166073
- This record as JSON: /data/d/166073.json