Pontocerebellar hypoplasia type 10
Synonyms: CLP1-related pontocerebellar hypoplasia · PCH10
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 10 | CLP1-related pontocerebellar hypoplasia · PCH10 |
| fr | Hypoplasie pontocérébelleuse type 10 | HPC10 · Hypoplasie pontocérébelleuse due à une mutation du gène CLP1 · PCH10 |
| de | Pontozerebelläre Hypoplasie Typ 10 | Pontozerebelläre Hypoplasie, CLP1-abhängige |
| es | Hipoplasia pontocerebelosa tipo 10 | HPC10 · Hipoplasia pontocerebelosa asociada a CLP1 |
| it | Ipoplasia pontocerebellare tipo 10 | Ipoplasia pontocerebellare da mutazione del gene CLP1 · PCH10 |
| nl | Pontocerebellaire hypoplasie type 10 | PCH10 · Pontocerebellaire hypoplasie als gevolg van CLP1-mutatie |
| pt | Hipoplasia pontocerebelosa tipo 10 | |
| pl | Hipoplazja mostowo-móżdzkowa typu 10 | Hipoplazja mostowo-móżdzkowa z powodu mutacji CLP1 · PCH10 |
| cs | Pontocerebelární hypoplázie, typ 10 | CLP1-vázaná pontocerebelární hypoplázie · PCH10 |
| uk | Гіпоплазія мозочка, тип 10 | Гіпоплазія мозочка, повязана з CLP1 · PCH10 |
| zh | 脑桥小脑发育不全10型 | CLP1相关的脑桥小脑发育不良 |
| tr | Pontoserebellar hipoplazi tip 10 | PCH10 · CLP1-ilişkili pontoserebellar hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615803 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0014349 | E | validated | |
| UMLS | C5190575 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16999 | ENSG00000172409 | 608757 | 11q12.1 | cleavage factor polyribonucleotide kinase subunit 1 | 24766809[PMID]_24766810[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 24766809[PMID]_24766810[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24766809[PMID]_24766810[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
27 annotations · validated 2018-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001347 | Hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0000637 | Long palpebral fissure | |
| HP:0002421 | Poor head control | |
| HP:0000520 | Proptosis | |
| HP:0001250 | Seizure | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0000737 | Irritability | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0025405 | Visual fixation instability | |
| Very rare (<4-1%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24766809[PMID]_24766810[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411493
- This record as JSON: /data/d/411493.json