Pontocerebellar hypoplasia type 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET PCH5 Fetal-onset olivopontocerebellar hypoplasia |
| Number of Symptoms | 9 |
| OrphanetNr: | 166068 |
| OMIM Id: |
610204
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| ICD-10: |
Q04.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic pontocerebellar hypoplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(OMIM) | Cerebellar cell paucity, more marked in vermis than hemispheres | 1 / 7739 | ||||
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(OMIM) | Seizure including seizure-like activity in utero starting around 18 weeks gestation | 1 / 7739 | ||||
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(OMIM) | Absent or immature dentate nuclei | 1 / 7739 | ||||
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(OMIM) | Olivopontocerebellar hypoplasia, severe | 1 / 7739 | ||||
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(HPO:0006955) | Olivopontocerebellar hypoplasia | 3 / 7739 | ||||
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(OMIM) | Dysplastic C-shaped inferior olivary nuclei | 1 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Patel et al. (2006) described 3 sibs, born of nonconsanguineous parents, with a precise onset of fetal seizure-like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks' gestation showed diffuse central ... |