{"orpha":1314,"name":"Symmetrical thalamic calcifications","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bilateral symmetrical thalamic gliosis"],"definition":"Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1314/","orphanet_url":"https://www.orpha.net/en/disease/detail/1314","names":{"fr":{"name":"Calcifications thalamiques symétriques","synonyms":["Gliose thalamique symétrique bilatérale"],"definition":"Les calcifications thalamiques symétriques se caractérisent cliniquement par un faible score d'Apgar, une spasticité ou une hypotonie marquée, un cri faible ou absent, des difficultés d'alimentation, et une diplégie ou une faiblesse faciale."},"de":{"name":"Thalamus-Kalzifikationen, symmetrische","synonyms":["Bilaterale symmetrische Gliose des Thalamus"],"definition":"Die Symmetrischen Thalamus-Kalzifikationen zeichnen sich klinisch durch einen niedrigen Apgar-Score, spastische Parese oder ausgeprägte Muskelhypotonie, schwaches oder fehlendes Schreien, schlechte Nahrungsaufnahme und beidseitige Lähmung oder Schwäche der Gesichtsmuskeln aus."},"es":{"name":"Calcificaciones talámicas simétricas","synonyms":["Gliosis talámica bilateral simétrica"],"definition":"Las calcificaciones talámicas simétricas se distinguen clínicamente por una puntuación baja en el test de Apgar, espasticidad o hipotonía marcada, lloro débil o ausente, problemas de alimentación y diplejía o debilidad facial."},"it":{"name":"Calcificazioni talamiche simmetriche"},"nl":{"name":"Symmetrische thalamische calcificaties","synonyms":["Bilaterale symmetrische thalamische gliose"],"definition":"Een aandoening, klinisch gekenmerkt door lage Apgar-score, spasticiteit of opmerkelijke hypotonie, zwak of afwezig gehuil, ondermaatse voeding, en faciale diplegie of zwakte."},"pt":{"name":"Calcificações talâmicas simétricas"},"pl":{"name":"Symetryczne zwapnienia wzgórza","synonyms":["Obstronna symetryczna glejoza wzgórza"]},"cs":{"name":"Symetrické kalcifikace v oblasti thalamu","synonyms":["Bilateral symmetrical thalamic gliosis"]},"uk":{"name":"Симетричні кальцифікати таламуса","synonyms":["Двосторонній симетричний гліоз таламуса"],"definition":"Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness."},"zh":{"name":"对称性丘脑钙化","synonyms":["双侧对称性丘脑胶质增生"]},"tr":{"name":"Simetrik talamik kalsifikasyonlar","synonyms":["Bilateral simetrik talamik gliosis"]}},"xrefs":[{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015269","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304914","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5070","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1577,"name":"OBSOLETE: Infantile thalamic degeneration","status":"inactive"},{"type":"Referred to","orpha":3311,"name":"OBSOLETE: Infantile symmetrical thalamic degeneration","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"28063749[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28063749[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}