{"Name":"Pontoneocerebellar hypoplasia","DiseaseID__c":"GARD:0010977","id":10977,"encodedName":"pontoneocerebellar-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Pontoneocerebellar hypoplasia","Xref_IDs__c":"423022482; 45163000; C1261175; C580383; DOID:0060264; MEDGEN:224703; MONDO:0020135; OMIMPS:607596; ORPHA:98523","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0020135","Disease_Description__c":"A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.","GARD_Name__c":"Pontoneocerebellar hypoplasia","GARD_Synonym__c":"non-syndromic pontocerebellar hypoplasia; pch; pontocerebellar hypoplasia; pontoneocerebellar atrophy; pontoneocerebllar hypoplasia","Curated_Disease_Description_Source__c":"GARD:0010977","Curated_Disease_Description__c":"Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term 'pontocerebellar' refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term 'hypoplasia' refers to the underdevelopment of these brain regions.  Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.  Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.  The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.  Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.  The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:98523","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020135","ORPHANET_ID__c":"ORPHA:98523","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia pontocerebelosa no sindrómica","Spanish_Description_Source__c":"ORPHA:98523","Spanish_Description__c":"Es un grupo poco frecuente de trastornos neurodegenerativos de aparición prenatal caracterizados por hipoplasia y/o atrofia del cerebelo y la protuberancia. La afectación de las estructuras supratentoriales es variable. Se ha descrito múltiples formas en función de la gravedad, la edad de inicio y la presentación clínica.","Spanish_Disease_Name__c":"hipoplasia pontocerebelosa no sindrómica","Spanish_GARD_Synonym__c":"atrofia pontoneocerebelosa; hipoplasia pontoneocerebelosa; hpc","Category_Linearization__c":"ORPHA:93890","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 is a group of related conditions that affect the development of the brain. The term 'pontocerebellar' refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term 'hypoplasia' refers to the underdevelopment of these brain regions.  Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.  Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.  The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.  Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.  The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.","Curated_Disease_Description_Source__c":"GARD:0010977","GARD_Synonym__c":"non-syndromic pontocerebellar hypoplasia; pch; pontocerebellar hypoplasia; pontoneocerebellar atrophy; pontoneocerebllar hypoplasia","Name":"Pontoneocerebellar hypoplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Brain Foundation","Website__c":"http://www.brainfoundation.org.au/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98523"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98523"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:98523"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=45163000","Source__c":"MONDO:0020135","Xref__c":"45163000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060264","Source__c":"MONDO:0020135","Xref__c":"DOID:0060264"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=224703","Source__c":"C1261175","Xref__c":"MEDGEN:224703"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580383","Source__c":"MONDO:0020135","Xref__c":"C580383"},{"URL__c":"https://www.orpha.net/en/disease/detail/98523","Source__c":"C1261175; MONDO:0020135; ORPHA:98523","Xref__c":"ORPHA:98523"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607596","Source__c":"MONDO:0020135","Xref__c":"OMIMPS:607596"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1261175","Source__c":"C1261175","Xref__c":"C1261175"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020135","Source__c":"GARD:0010977","Xref__c":"MONDO:0020135"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022482","Xref__c":"423022482"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["non-syndromic pontocerebellar hypoplasia"," pch"," pontocerebellar hypoplasia"," pontoneocerebellar atrophy"," pontoneocerebllar hypoplasia"]}