Pontocerebellar hypoplasia type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PCH1 Norman disease |
| Number of Symptoms | 28 |
| OrphanetNr: | 2254 |
| OMIM Id: |
607596
614678 |
| ICD-10: |
Q04.3 |
| UMLs: |
C1843504 |
| MeSH: |
C548069 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 40 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 Spinal muscular atrophy associated with central nervous system anomaly -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
|
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(HPO:0002380) | Fasciculations | 42 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002398) | Degeneration of anterior horn cells | 14 / 7739 | ||||
|
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
|
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | Frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0002803) | Congenital contracture | 45 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0003445) | EMG: neuropathic changes | 21 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
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(HPO:0007269) | Spinal muscular atrophy | 24 / 7739 | ||||
|
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0012110) | Hypoplasia of the pons | 16 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0200147) | Neuronal loss in basal ganglia | 3 / 7739 | ||||
|
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0006999) | Basal ganglia gliosis | 4 / 7739 | ||||
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(HPO:0006850) | Hypoplasia of the ventral pons | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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