Porencephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 24 |
| OrphanetNr: | 2940 |
| OMIM Id: |
175780
614483 |
| ICD-10: |
G93.0 Q04.6 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10036172 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral malformation with epilepsy
-Rare genetic disease -Rare neurologic disease Encephaloclastic disorder -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000577) | Exotropia | 43 / 7739 | ||||
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(HPO:0001123) | Visual field defect | 30 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002273) | Tetraparesis | 15 / 7739 | ||||
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(HPO:0002451) | Limb dystonia | 16 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002301) | Hemiplegia | 42 / 7739 | ||||
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(HPO:0002140) | Ischemic stroke | 70 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0010636) | Schizencephaly | 5 / 7739 | ||||
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(HPO:0002352) | Leukoencephalopathy | 32 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0002132) | Porencephaly | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Very frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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