{"Name":"Pseudo-TORCH syndrome","DiseaseID__c":"GARD:0012426","id":12426,"encodedName":"pseudo-torch-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pseudo-TORCH syndrome","Xref_IDs__c":"722390006; C3489725; DOID:0050656; MEDGEN:483678; MONDO:0009626; OMIMPS:251290; ORPHA:1229","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009626","Disease_Description__c":"Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.","GARD_Name__c":"Pseudo-TORCH syndrome","GARD_Synonym__c":"band-like calcification with simplified gyration and polymicrogyria; baraitser-brett-piesowicz syndrome; baraitser-reardon syndrome; bilateral band-like calcification with polymicrogyria; blc-pmg; congenital intrauterine infection-like syndrome; microcephaly-intracranial calcification-intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0009626","Curated_Disease_Description__c":"Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1229","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009626","ORPHANET_ID__c":"ORPHA:1229","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome similar a la infección intrauterina congénita","Spanish_Description_Source__c":"ORPHA:1229","Spanish_Description__c":"Es un síndrome caracterizado por la presencia de microcefalia y calcificaciones intracraneales al nacimiento acompañadas de retraso neurológico, crisis epilépticas y un curso clínico similar al observado en pacientes después de una infección intrauterina por <i>Toxoplasma gondii</i>, rubéola, citomegalovirus, herpes simple (conocido como síndrome TORCH), u otros agentes, a pesar de que repetidas pruebas revelan la ausencia de cualquier agente infeccioso conocido.","Spanish_Disease_Name__c":"síndrome similar a la infección intrauterina congénita","Spanish_GARD_Synonym__c":"calcificación bilateral en bandas con polimicrogiria; síndrome de baraitser-brett-piesowicz; síndrome de baraitser-reardon; síndrome de microcefalia-calcificación intracraneal-discapacidad intelectual; síndrome pseudo-torch","Category_Linearization__c":"ORPHA:98006","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":"Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.","Curated_Disease_Description_Source__c":"MONDO:0009626","GARD_Synonym__c":"band-like calcification with simplified gyration and polymicrogyria; baraitser-brett-piesowicz syndrome; baraitser-reardon syndrome; bilateral band-like calcification with polymicrogyria; blc-pmg; congenital intrauterine infection-like syndrome; microcephaly-intracranial calcification-intellectual disability syndrome","Name":"Pseudo-TORCH syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1229"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1229"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3489725"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012426","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1229","Source__c":"C3489725; MONDO:0009626","Xref__c":"ORPHA:1229"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050656","Source__c":"MONDO:0009626","Xref__c":"DOID:0050656"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722390006","Source__c":"MONDO:0009626","Xref__c":"722390006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483678","Source__c":"C3489725","Xref__c":"MEDGEN:483678"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS251290","Source__c":"MONDO:0009626","Xref__c":"OMIMPS:251290"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3489725","Source__c":"C3489725","Xref__c":"C3489725"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009626","Source__c":"GARD:0012426","Xref__c":"MONDO:0009626"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OCLN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1229","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1229","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1229","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1229","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1229","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["band-like calcification with simplified gyration and polymicrogyria"," baraitser-brett-piesowicz syndrome"," baraitser-reardon syndrome"," bilateral band-like calcification with polymicrogyria"," blc-pmg"," congenital intrauterine infection-like syndrome"," microcephaly-intracranial calcification-intellectual disability syndrome"]}