ORPHA:2524
Pontocerebellar hypoplasia type 2
Synonyms: PCH2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 2 | PCH2 |
| fr | Hypoplasie pontocérébelleuse type 2 | HPC2 · PCH2 |
| de | Pontozerebelläre Hypoplasie Typ 2 | = en |
| es | Hipoplasia pontocerebelosa tipo 2 | HPC2 |
| it | Ipoplasia pontocerebellare, tipo 2 | = en |
| nl | Pontocerebellaire hypoplasie type 2 | = en |
| pt | Hipoplasia pontocerebelosa tipo 2 | |
| pl | Hipoplazja mostu i móżdżku typu 2 | = en |
| cs | Pontocerebelární hypoplázie, typ 2 | = en |
| uk | Гіпоплазія мозочка, тип 2 | = en |
| zh | 脑桥小脑发育不全2型 | = en |
| tr | Pontoserebellar hipoplazi tip 2 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277470 | BTNT | validated | |
| OMIM | 612389 | BTNT | validated | |
| OMIM | 612390 | BTNT | validated | |
| OMIM | 613811 | BTNT | validated | |
| OMIM | 617026 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.01 | NTBT | index | validated |
| MONDO | 0016759 | E | validated | |
| MeSH | C548070 | E | validated | |
| UMLS | C2932714 | E | validated | |
| GARD | 10705 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:207012Spinal muscular atrophy associated with central nervous system anomaly
rare genetic diseases; rare neurological diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSEN15 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16791 | ENSG00000198860 | 608756 | 1q25.3 | tRNA splicing endonuclease subunit 15 | 27392077[PMID] |
| SEPSECS | Disease-causing germline mutation(s) in | Assessed | HGNC:30605 | ENSG00000109618 | 613009 | 4p15.2 | Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 20920667[PMID] |
| TSEN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28422 | ENSG00000154743 | 608753 | 3p25.2 | tRNA splicing endonuclease subunit 2 | 23562994[PMID] |
| TSEN34 | Disease-causing germline mutation(s) in | Assessed | HGNC:15506 | ENSG00000170892 | 608754 | 19q13.42 | tRNA splicing endonuclease subunit 34 | 18711368[PMID] |
| TSEN54 | Disease-causing germline mutation(s) in | Assessed | HGNC:27561 | ENSG00000182173 | 608755 | 17q25.1 | tRNA splicing endonuclease subunit 54 | 20301773[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 81 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | 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.
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HPO phenotypes
40 annotations · validated 2020-12-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001266 | Choreoathetosis | |
| HP:0011968 | Feeding difficulties | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0006850 | Hypoplasia of the ventral pons | |
| HP:0031162 | Impaired oropharyngeal swallow response | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002360 | Sleep abnormality | |
| Frequent (79-30%) | ||
| HP:0002104 | Apnea | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0012469 | Infantile spasms | |
| HP:0001270 | Motor delay | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0002268 | Paroxysmal dystonia | |
| HP:0002033 | Poor suck | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002719 | Recurrent infections | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000340 | Sloping forehead | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0008936 | Axial hypotonia | |
| HP:0003487 | Babinski sign | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0011171 | Simple febrile seizure | |
| HP:0001257 | Spasticity | |
| HP:0200049 | Upper limb hypertonia | |
| HP:0002119 | Ventriculomegaly | |
| HP:0003558 | Viral infection-induced rhabdomyolysis | |
| HP:0012765 | Widened cerebellar subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0002350 | Cerebellar cyst | |
| Excluded (0%) | ||
| HP:0001999 | Abnormal facial shape | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 23562994[PMID]_20301773[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2524
- This record as JSON: /data/d/2524.json