{"orpha":320385,"name":"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spastic paraplegia type 49","HSAN due to TECPR2 mutation","SPG49"],"definition":"A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320385/","orphanet_url":"https://www.orpha.net/en/disease/detail/320385","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique due à une mutation de TECPR2","synonyms":["NHSA due à une mutation de TECPR2","Paraplégie spastique autosomique récessive type 49","SPG49"],"definition":"Neuropathie périphérique génétique rare caractérisée par une hypotonie précoce évoluant vers une paraparésie spastique, une aréflexie, une diminution de la sensibilité à la douleur et aux températures, une neuropathie autonome, un reflux gastro-oesophagien, une pneumonie récurrente et des problèmes respiratoires. Les patients présentent également une déficience intellectuelle et une dysmorphie à type de microcéphalie/brachycéphalie, de cou court et large, d'implantation basse de la ligne antérieure des cheveux et de traits de visage grossiers."},"de":{"name":"Hereditäre sensorische und autonome Neuropathie durch TECPR2-Mutation","synonyms":["HSAN durch TECPR2-Mutation","SPG49","Spastische Paraplegie, autosomal-rezessive, Typ 49"]},"es":{"name":"Neuropatía sensitiva y autonómica hereditaria por una mutación en el gen TECPR2","synonyms":["HSAN por una mutación en el gen TECPR2","Paraplejía espástica autosómica recesiva tipo 49","SPG49"],"definition":"Es una neuropatía periférica genética y poco frecuente caracterizada por hipotonía temprana que, en el curso de la enfermedad, evoluciona a paraplejía espástica, arreflexia, disminución de la sensibilidad al dolor y a la temperatura, neuropatía autonómica, enfermedad por reflujo gastroesofágico, neumonía recurrente y problemas respiratorios. Los pacientes también manifiestan discapacidad intelectual y rasgos dismórficos, incluyendo leve microcefalia braquicefálica, cuello ancho y corto, línea anterior de implantación del cabello baja y cara tosca."},"it":{"name":"Neuropatia sensoriale e autonomica ereditaria da mutazione di TECPR2","synonyms":["SPG49"],"definition":"La neuropatia sensoriale e autonomica ereditaria da mutazione di TECPR2 è una neuropatia periferica rara di origine genetica, caratterizzata da ipotonia precoce che evolve verso la paraparesi spastica, areflessia, diminuzione della sensibilità al dolore e alla temperatura, neuropatia del sistema autonomo, reflusso gastroesofageo, polmonite ricorrente e problemi respiratori. I pazienti presentano inoltre disabilità intellettiva e dismorfismi facciali (lieve microcefalia brachicefalica, collo corto e largo, impianto basso dei capelli sulla fronte e lineamenti del viso grossolani)."},"nl":{"name":"Erfelijke sensorische en autonome neuropathie door TECPR2-mutatie","synonyms":["Autosomaal recessieve spastische paraplegie type 49","HSAN door TECPR2-mutatie","SPG49"],"definition":"Erfelijke sensorische en autonome neuropathie door TECPR2-mutatie is een zeldzame, genetische, perifere neuropathie gekarakteriseerd door vroege hypotonie die evolueert naar spastische paraparese, areflexie, verminderde gevoeligheid voor pijn en temperatuur, autonome neuropathie, gastro-oesofageale refluxziekte, recurrente pneumonie en ademhalingsproblemen. Patiënten vertonen ook intellectuele beperking en dysmorfe kenmerken, waaronder milde brachycefale microcefalie, korte en brede nek/hals, lage voorste haarlijn en ruwe gelaatstrekken."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária por mutação TECPR2","synonyms":["Paraplegia espástica autossómica recessiva tipo 49"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 49","synonyms":["SPG49"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 49","synonyms":["SPG49"]},"uk":{"name":"Спадкова сенсорна та автономна нейропатія, зумовлена мутацією TECPR2","synonyms":["Аутосомно-рецесивна спастична параплегія типу 49","HSAN внаслідок мутації TECPR2","SPG49"],"definition":"A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face."},"zh":{"name":"TECPR2基因突变所致遗传性感觉和自主神经病变","synonyms":["常染色体隐性遗传痉挛性截瘫49型"],"definition":"TECPR2突变所致遗传性感觉和自主神经病变是一种罕见的遗传性周围神经病变，其特征为早期张力减退发展为痉挛性瘫痪、无反射、疼痛和温度敏感性降低、自主神经病变、胃食管反流病、复发性肺炎和呼吸问题。患者也有智力障碍和畸形特征，包括轻度短头小头畸形、脖子短而宽、前发际线低和面部粗糙。"},"tr":{"name":"TECPR2 mutasyonuna bağlı kalıtsal duyusal ve otonom nöropati","synonyms":["SPG49","TECPR2 mutasyonu nedeniyle HSAN","Otozomal çekinik spastik parapleji tip 49"]}},"xrefs":[{"source":"OMIM","code":"615031","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014016","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TECPR2","name":"tectonin beta-propeller repeat containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23176824[PMID]","hgnc":"19957","ensembl":"ENSG00000196663","omim":"615000","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23176824[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23176824[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-17","source":"23176824[PMID]","terms":[{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}