{"orpha":642,"name":"Hereditary sensory and autonomic neuropathy type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIPA","Congenital insensitivity to pain with anhidrosis","HSAN4","Hereditary sensory and autonomic neuropathy type IV"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642/","orphanet_url":"https://www.orpha.net/en/disease/detail/642","names":{"fr":{"name":"Neuropathie héréditaire sensitive et autonomique type 4","synonyms":["HSAN4","ICDA","Insensibilité congénitale à la douleur avec anhidrose","NHSA4","Neuropathie héréditaire sensitive et autonomique type IV"],"definition":"Neuropathie héréditaire sensitive et autonomique rare caractérisée par une anhidrose, une insensibilité à la douleur, l'automutilation et des épisodes de fièvre."},"de":{"name":"Neuropathie, autonome hereditäre sensorische, Typ 4","synonyms":["CIP-Anhidrose-Syndrom","HSAN4","Neuropathie, autonome hereditäre sensorische, Typ IV","Schmerzunempfindlichkeit mit Anhidrose"],"definition":"Eine seltene hereditäre sensorische und autonome Neuropathie, die durch Anhidrose, Unempfindlichkeit gegenüber Schmerzen, Selbstmutilation und Fieberschübe gekennzeichnet ist."},"es":{"name":"Neuropatía sensitiva autonómica hereditaria tipo 4","synonyms":["HSAN4","Neuropatía sensitiva autonómica hereditaria tipo IV","Síndrome CIP-anhidrosis","Síndrome de insensibilidad congénita al dolor-anhidrosis"],"definition":"Es una neuropatía hereditaria sensitiva y autonómica poco frecuente caracterizada por anhidrosis, insensibilidad al dolor, comportamiento autolesivo y episodios de fiebre."},"it":{"name":"Neuropatia sensoriale e autonoma ereditaria tipo 4","definition":"Si tratta di una neuropatia sensoriale autonoma ereditaria rara, caratterizzata da anidrosi, insensibilità congenita al dolore, automutilazione ed episodi febbrili."},"nl":{"name":"Erfelijke sensorische en autonome neuropathie type 4","synonyms":["CIP - anhidrose-syndroom","Congenitale ongevoeligheid voor pijn - anhidrose-syndroom","Erfelijke sensorische en autonome neuropathie type IV","HSAN 4"],"definition":"Een zeldzame, erfelijke, sensorische en autonome neuropathie gekarakteriseerd door anhidrose, ongevoeligheid voor pijn, zelfverminking en episodes met koorts."},"pt":{"name":"Neuropatia sensitiva e autonómica hereditária tipo 4","synonyms":["Insensibilidade à dor com anidrose"],"definition":"Neuropatia sensorial e autonómica hereditária rara, caracterizada por anidrose, insensibilidade à dor, comportamento automutilante e episódios de febre."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna typu 4","synonyms":["HSAN4","NHSA4","Niewrażliwość na ból - anhydroza","HSAN4","Zespół CIP i anhydrozy","Dziedziczna neuropatia czuciowa i autonomiczna typu IV","Zespół wrodzonej niewrażliwości na ból i anhydrozy"]},"cs":{"name":"Hereditární senzorická a autonomní neuropatie IV","synonyms":["HSAN IV","Vrozená necitlivost pro bolest"]},"uk":{"name":"Спадкова сенсорна та вегетативна нейропатія, тип 4","synonyms":["CIPA","Вроджена нечутливість до болю при ангідрозі","Спадкова сенсорна та автономна нейропатія IV типу","HSAN4"],"definition":"A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever."},"zh":{"name":"遗传性感觉和自主神经病4型","synonyms":["遗传性感觉和自主神经性神经病IV型"]},"tr":{"name":"Kalıtsal duyusal ve otonom nöropati tip 4","synonyms":["CIPA","HSAN4","Anhidrozlu ağrıya doğumsal duyarsızlık","Kalıtsal duyusal ve otonom nöropati tip IV"]}},"xrefs":[{"source":"OMIM","code":"256800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C21.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1831234152"},{"source":"MONDO","code":"0009746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020074","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3006","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"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":"NTRK1","name":"neurotrophic receptor tyrosine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301726[PMID]","hgnc":"8031","ensembl":"ENSG00000198400","omim":"191315","loci":["1q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Japan","status":"Validated","source":"23495212[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-24","source":"25359976[PMID]_29419974[PMID]_25744033[PMID]","terms":[{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011136","label":"Aplasia of the sweat glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002726","label":"Recurrent Staphylococcus aureus infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005368","label":"Abnormality of humoral immunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100491","label":"Abnormality of lower limb joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025615","label":"Abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100537","label":"Fasciitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012170","label":"Nail-biting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002821","label":"Neuropathic arthropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002661","label":"Painless fractures due to injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003091","label":"Trophic limb changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009085","label":"Alveolar ridge overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003095","label":"Septic arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030811","label":"Tongue pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001955","label":"Unexplained fevers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very rare (<4-1%)","criteria":null}]}}