Human Phenotype Ontology 
Grandparent Node:
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Abnormal forebrain morphology (HP:0100547)help
Parent Node:
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Abnormal cerebral morphology (HP:0002060)help
..Starting node
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Porencephalic cyst (HP:0002132)help
Term ID: 2132
Name: Porencephalic cyst
Synonym: Cavity within brain
Definition: A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Comments:
Reference: HP:0002132
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cerebral cortex morphology (HP:0002538) help
..expandAbnormal cerebral subcortex morphology (HP:0010993) help
..expandAbnormal septum pellucidum morphology (HP:0007375) help
..expandAplasia/Hypoplasia of the cerebrum (HP:0007364) help
..expandAtrophy/Degeneration affecting the cerebrum (HP:0007369) help
..expandCerebral calcification (HP:0002514) help
..expandCerebral edema (HP:0002181) help
..expandCerebral granulomatosis (HP:0100313) help
..expandCerebral inclusion bodies (HP:0100314) help
..expandDiffuse cerebral sclerosis (HP:0006918) help
..expandEncephalomalacia (HP:0040197) help
..expandGranulovacuolar degeneration (HP:0002528) help
..expandLeukoencephalopathy (HP:0002352) help
..expandMegalencephaly (HP:0001355) help
..expandSchizencephaly (HP:0010636) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002132HP:0002132Porencephalic cyst0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0002132HP:0002132Porencephalic cyst0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0002132HP:0002132Porencephalic cyst0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0002132HP:0002132Porencephalic cyst0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0002132HP:0002132Porencephalic cyst0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0002132HP:0002132Porencephalic cyst0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0002132HP:0002132Porencephalic cyst0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0002132HP:0002132Porencephalic cyst0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0002132HP:0002132Porencephalic cyst0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0002132HP:0002132Porencephalic cyst0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0002132HP:0002132Porencephalic cyst0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent113
HP:0002132HP:0002132Porencephalic cyst0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0002132HP:0002132Porencephalic cyst0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040282 - Frequent276
HP:0002132HP:0002132Porencephalic cyst0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent196
HP:0002132HP:0002132Porencephalic cyst0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 5.71
HP:0002132HP:0002132Porencephalic cyst0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002132HP:0002132Porencephalic cyst0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0002132HP:0002132Porencephalic cyst0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent102
HP:0002132HP:0002132Porencephalic cyst0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0002132HP:0002132Porencephalic cyst0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0002132HP:0002132Porencephalic cyst0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0002132HP:0002132Porencephalic cyst0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent33
HP:0002132HP:0002132Porencephalic cyst0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent34
HP:0002132HP:0002132Porencephalic cyst0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent60
HP:0002132HP:0002132Porencephalic cyst0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002132HP:0002132Porencephalic cyst0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent55
HP:0002132HP:0002132Porencephalic cyst0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0002132HP:0002132Porencephalic cyst0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0002132HP:0002132Porencephalic cyst0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0002132HP:0002132Porencephalic cyst0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent56
HP:0002132HP:0002132Porencephalic cyst0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040282 - Frequent1


Genes (30) :ADAR ARHGAP31 COL4A1 COL4A2 CPLANE1 DLL4 DOCK6 EOGT FGFR1 GPX4 HRAS IFIH1 KIF1A KRAS LAMB1 LSM11 NOTCH1 NRAS OFD1 PLOD3 RBPJ RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SNRPB TCTN3 TREX1 ZNHIT3

Diseases (15) :ORPHA:51 ORPHA:974 OMIM:175780 OMIM:614483 OMIM:277170 OMIM:613001 OMIM:250220 ORPHA:2612 ORPHA:2836 OMIM:615191 OMIM:311200 OMIM:612394 ORPHA:1393 OMIM:117650 OMIM:258860
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.