{"orpha":221061,"name":"Familial cerebral cavernous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial brain cavernous angioma","Familial cerebral cavernoma","Hereditary brain cavernous angioma","Hereditary cerebral cavernoma","Hereditary cerebral cavernous malformation"],"definition":"A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221061/","orphanet_url":"https://www.orpha.net/en/disease/detail/221061","names":{"fr":{"name":"Cavernomatose cérébrale héréditaire","synonyms":["Angiome caverneux cérébral familial","Angiome caverneux cérébral héréditaire","Cavernome cérébral héréditaire","Malformation caverneuse cérébrale familiale","Malformation caverneuse cérébrale héréditaire","Cavernomatose cérébrale familial"],"definition":"Malformation capillaro-veineuse rare caractérisée par des capillaires dilatés irréguliers et regroupés qui peuvent être asymptomatiques ou provoquer des troubles neurologiques variables, tels que, des crises d'épilepsie, des céphalées non spécifiques, des déficits neurologiques focaux progressifs ou transitoires et/ou des hémorragies cérébrales."},"de":{"name":"Familiäre zerebrale kavernöse Fehlbildung","synonyms":["Familiäre zerebrale kavernöse Malformation","Familiäres zerebrales Kavernom","Familiäres kavernöses Angiom des Gehirns","FCCM","Zerebrales Kavernom, hereditäres","Hereditäre zerebrale kavernöse Malformation"],"definition":"Eine seltene, kapillarvenöse Fehlbildung, die durch eng gebündelte, unregelmäßig erweiterte Kapillaren gekennzeichnet ist, die asymptomatisch sein können oder variable neurologische Manifestationen wie Krampfanfälle, unspezifische Kopfschmerzen, progressive oder transiente fokale neurologische Defizite und/oder Hirnblutungen verursachen können."},"es":{"name":"Malformación cavernosa cerebral familiar","synonyms":["Cavernoma cerebral familiar","Cavernoma cerebral hereditario","Malformación cavernosa cerebral hereditaria","Angioma cavernoso cerebral familiar","Angioma cavernoso cerebral hereditario"],"definition":"Son malformaciones venosas capilares poco frecuentes caracterizadas por densos racimos de capilares dilatados de forma irregular, que pueden ser asintomáticas o pueden causar manifestaciones neurológicas variables tales como crisis epilépticas, cefaleas inespecíficas, déficits neurológicos focales transitorios o progresivos y hemorragias cerebrales."},"it":{"name":"Malformazione cavernosa cerebrale famigliare","synonyms":["Angioma cavernoso cerebrale ereditario","Angioma cavernoso cerebrale familiare","Cavernoma cerebrale ereditario","Cavernoma cerebrale familiare","Malformazione cavernosa cerebrale ereditaria"],"definition":"Si tratta di una malformazione rara dei capillari e delle vene, caratterizzata dalla dilatazione irregolare di gruppi di capillari vicini. I pazienti possono essere asintomatici oppure presentare sintomi neurologici variabili come le crisi epilettiche, la cefalea aspecifica, i deficit neurologici focali progressivi o transitori, e/o le emorragie cerebrali."},"nl":{"name":"Familiale cerebrale caverneuze malformatie","synonyms":["Familiaal caverneus angioom van hersenen","Familiaal cerebraal cavernoom","Hereditair cerebraal cavernoom","Hereditaire cerebrale caverneuze malformatie","Familiale caverneuze malformatie van hersenen","Hereditaire caverneuze malformatie van hersenen","Hereditair caverneus angioom van hersenen"],"definition":"Zeldzame capillaire-veneuze malformaties gekarakteriseerd door dicht op elkaar gepakte, onregelmatige, verwijde capillairen die asymptomatisch kunnen zijn of die variabele neurologische manifestaties kunnen veroorzaken, waaronder insulten, niet-specifieke hoofdpijn, progressieve of transiënte focale neurologische stoornissen, en/of hersenbloedingen."},"pt":{"name":"Malformação cavernosa cerebral familiar","synonyms":["Angioma cavernoso cerebral familiar","Angioma cavernoso cerebral hereditário","Cavernoma cerebral familiar","Cavernoma cerebral hereditário"]},"pl":{"name":"Dziedziczna malformacja jamista mózgu","synonyms":["Dziedziczny naczyniak jamisty mózgu","Rodzinna malformacja jamista mózgu","Rodzinny naczyniak jamisty mózgu"]},"cs":{"name":"Familiární cerebrální kavernózní malformace","synonyms":["Familiární kavernózní angiom mozku","Familiární kavernózní hemangiom mozku","Familiární cerebrální kavernom","Hereditární kavernózní hemangiom mozku","Hereditární cerebrální kavernom","Hereditární cerebrální kavernózní malformace","Dědičný kavernózní angiom mozku"]},"uk":{"name":"Сімейна кавернозна мальформація головного мозку","synonyms":["Сімейна кавернозна ангіома головного мозку","Сімейна кавернома головного мозку","Спадкова кавернозна ангіома головного мозку","Спадкова кавернома головного мозку","Спадкова кавернозна мальформація головного мозку"],"definition":"A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages."},"zh":{"name":"家族性大脑海绵状畸形","synonyms":["家族性大脑海绵状畸形"],"definition":"一种罕见的毛细血管静脉畸形，其特征是紧密聚集的不规则扩张的毛细血管，可无症状表现或可引起各种神经症状，如癫痫发作、非特异性头痛、进行性或暂时性局灶性神经功能缺失和/或脑出血。"},"tr":{"name":"Ailesel serebral kavernöz malformasyon","synonyms":["Ailesel serebral kavernom","Kalıtsal serebral kavernom","Ailesel beyin kavernöz anjiyom","Kalıtsal beyin kavernöz anjiyom","Kalıtsal serebral kavernöz malformasyon"]}},"xrefs":[{"source":"OMIM","code":"116860","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"603284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619538","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q28.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2068071376"},{"source":"MONDO","code":"0031037","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536610","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2486,"name":"Transverse limb deficiency-hemangioma syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":723432,"name":"Central nervous system venous vascular malformation","classifications":[147,181,198]},{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":459548,"name":"Rare genetic venous malformation","classifications":[156]}],"children":[],"genes":[{"symbol":"CCM2","name":"CCM2 scaffold protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301470[PMID]","hgnc":"21708","ensembl":"ENSG00000136280","omim":"607929","loci":["7p13"]},{"symbol":"KRIT1","name":"KRIT1 ankyrin repeat containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301470[PMID]","hgnc":"1573","ensembl":"ENSG00000001631","omim":"604214","loci":["7q21.2"]},{"symbol":"PDCD10","name":"programmed cell death 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301470[PMID]","hgnc":"8761","ensembl":"ENSG00000114209","omim":"609118","loci":["3q26.1"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"34496175[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-15","source":"27792856[PMID]_30909834[PMID]_20301470[PMID]_24265337[PMID]","terms":[{"hpo":"HP:0033522","label":"Cerebral cavernous malformation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012748","label":"Focal T2 hyperintense brainstem lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012749","label":"Focal T2 hypointense brainstem lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030430","label":"Neuroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007872","label":"Choroidal hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011513","label":"Retinal cavernous angioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009588","label":"Vestibular schwannoma","frequency":"Very rare (<4-1%)","criteria":null}]}}