Progressive cerebello-cerebral atrophy
Synonyms: PCCA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive cerebello-cerebral atrophy | PCCA |
| fr | Atrophie cérébello-cérébrale progressive | = en |
| de | Progressive zerebelläre-zerebrale Atrophie | = en |
| es | Atrofia cerebral y cerebelosa progresiva | = en |
| it | Atrofia cerebello-cerebrale progressiva | = en |
| nl | Progressieve cerebello-cerebrale atrofie | = en |
| pt | Atrofia cerebelo-cerebral progressiva | = en |
| pl | Postępujący zanik móżdżkowo-mózgowy | = en |
| cs | Progresivní cerebelo-cerebrální atrofie | = en |
| uk | Прогресуюча мозочково-мозкова атрофія | = en |
| zh | 进行性小脑萎缩 | = en |
| tr | İlerleyici serebello-serebral atrofi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615851 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0016589 | E | validated | |
| UMLS | C3151140 | 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 (2):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEPSECS | Disease-causing germline mutation(s) in | Assessed | HGNC:30605 | ENSG00000109618 | 613009 | 4p15.2 | Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 20920667[PMID] |
| VPS53 | Disease-causing germline mutation(s) in | Assessed | HGNC:25608 | ENSG00000141252 | 615850 | 17p13.3 | VPS53 subunit of GARP complex | 24577744[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 12920088[PMID]_25044680[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12920088[PMID]_25044680[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/247198
- This record as JSON: /data/d/247198.json