{"Name":"Pontocerebellar hypoplasia type 5","DiseaseID__c":"GARD:0010709","id":10709,"encodedName":"pontocerebellar-hypoplasia-type-5","IsDeleted":false,"Disease_Name_Full__c":"Pontocerebellar hypoplasia type 5","Xref_IDs__c":"718607001; C1857762; C537745; DOID:0060274; MEDGEN:341845; MONDO:0012438; OMIM:610204","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012438","Disease_Description__c":"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.","GARD_Name__c":"Pontocerebellar hypoplasia type 5","GARD_Synonym__c":"congenital pontocerebellar hypoplasia type 5; fetal onset olivopontocerebellar hypoplasia; fetal-onset olivopontocerebellar hypoplasia; pch5; pch5 - pontocerebellar hypoplasia type 5","Curated_Disease_Description_Source__c":"MONDO:0012438","Curated_Disease_Description__c":"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012438","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.","Curated_Disease_Description_Source__c":"MONDO:0012438","GARD_Synonym__c":"congenital pontocerebellar hypoplasia type 5; fetal onset olivopontocerebellar hypoplasia; fetal-onset olivopontocerebellar hypoplasia; pch5; pch5 - pontocerebellar hypoplasia type 5","Name":"Pontocerebellar hypoplasia type 5","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857762"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060274","Source__c":"MONDO:0012438","Xref__c":"DOID:0060274"},{"URL__c":"https://www.omim.org/entry/610204","Source__c":"C1857762; MONDO:0012438","Xref__c":"OMIM:610204"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341845","Source__c":"C1857762","Xref__c":"MEDGEN:341845"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537745","Source__c":"MONDO:0012438","Xref__c":"C537745"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857762","Source__c":"C1857762","Xref__c":"C1857762"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718607001","Source__c":"C1857762; MONDO:0012438","Xref__c":"718607001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012438","Source__c":"GARD:0010709","Xref__c":"MONDO:0012438"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK9673","Source__c":"Gene Review","Xref__c":"NBK9673"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TSEN54","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tsen54","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610204","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610204","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610204","Feature__r":{"HPO_Description__c":"Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006955","HPO_Name__c":"Olivopontocerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["congenital pontocerebellar hypoplasia type 5"," fetal onset olivopontocerebellar hypoplasia"," fetal-onset olivopontocerebellar hypoplasia"," pch5"," pch5 - pontocerebellar hypoplasia type 5"]}