Pontocerebellar hypoplasia type 3
Synonyms: Cerebellar atrophy with progressive microcephaly · PCH3
- 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 pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 3 | Cerebellar atrophy with progressive microcephaly · PCH3 |
| fr | Hypoplasie pontocérébelleuse type 3 | Atrophie du cervelet avec microcéphalie progressive · HPC3 · PCH3 |
| de | Pontozerebelläre Hypoplasie Typ 3 | Kleinhirnatrophie mit progressiver Mikrozephalie · PCH3 |
| es | Hipoplasia pontocerebelosa tipo 3 | Atrofia cerebelosa con microcefalia progresiva · HPC3 |
| it | Ipoplasia pontocerebellare, tipo 3 | Atrofia cerebellare con microcefalia progressiva · PCH3 |
| nl | Pontocerebellaire hypoplasie type 3 | Cerebellaire atrofie met progressieve microcefalie · PCH3 |
| pt | Hipoplasia pontocerebelosa tipo 3 | Microcefalia progressiva com atrofia cerebelosa |
| pl | Hipoplazja mostowo-móżdżkowa typu 3 | Hipoplazja mostowo-móżdżkowa bez dyskinezji · Zanik móżdżku z postępującym małogłowiem · Hipoplazja mostowo-móżdżkowa z zanikiem nerwu wzrokowego |
| cs | Pontocerebelární hypoplázie, typ 3 | CLAM · PCH s atrofií optiku · PCH bez dyskineze · PCH3 · Mozečková atrofie s progresivní mikrocefalií |
| uk | Гіпоплазія мозочка, тип 3 | Атрофія мозочка з прогресуючою мікроцефалією · PCH3 |
| zh | 脑桥小脑发育不全症3型 | 小脑萎缩伴进行性小头畸形 |
| tr | Pontoserebellar hipoplazi tip 3 | CLAM · PCH3 · Optik atrofi ile seyreden PCH · Diskinezi ile seyretmeyen PCH · İlerleyici mikrosefali ile seyreden serebellar atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608027 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | index | validated |
| MONDO | 0011948 | E | validated | |
| MeSH | C548072 | E | validated | |
| UMLS | C1842687 | E | validated | |
| GARD | 10708 | 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:98523Pontocerebellar hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCLO | Disease-causing germline mutation(s) in | Assessed | HGNC:13406 | ENSG00000186472 | 604918 | 7q21.11 | piccolo presynaptic cytomatrix protein | 25832664[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/97249
- This record as JSON: /data/d/97249.json