{"Name":"Channelopathy-associated congenital insensitivity to pain, autosomal recessive","DiseaseID__c":"GARD:0012267","id":12267,"encodedName":"channelopathy-associated-congenital-insensitivity-to-pain-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Channelopathy-associated congenital insensitivity to pain, autosomal recessive","Xref_IDs__c":"C125386; C1855739; MEDGEN:344563; MONDO:0009459; OMIM:243000; ORPHA:88642","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009459","Disease_Description__c":"A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)","GARD_Name__c":"Channelopathy-associated congenital insensitivity to pain, autosomal recessive","GARD_Synonym__c":"asymbolia for pain; channelopathy-associated cip; congenital analgesia, autosomal recessive; congenital insensitivity to pain-anosmia-neuropathic arthropathy; insensitivity to pain, channelopathy-associated; insensitivity to pain, congenital; scn9a-related congenital insensitivity to pain","Curated_Disease_Description_Source__c":"GARD:0012267","Curated_Disease_Description__c":"Channelopathy-associated congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but they cannot sense, for example, that a hot beverage is burning their tongue. Pain is a vital signal that helps people avoid danger and injuries. People who cannot feel pain experience more  injuries and may have shorter life expectancies. The first signs of channelopathy-associated congenital insensitivity to pain often occur when an infant shows no response to stimuli such as an injury or medical procedures like vaccines. Young children with this condition may have wounds from biting or burning themselves. A lack of pain awareness often leads individuals to develop wounds, bruises, broken bones, and other health issues that may go undetected. Long lasting joint injuries (often occurring alongside broken bones) can lead to joint deformities and often the loss of normal use of that body part. Eye injuries that go unnoticed can lead to vision loss. Many people with channelopathy-associated congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Channelopathy-associated congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:88642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009459","ORPHANET_ID__c":"ORPHA:88642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Insensibilidad congénita al dolor-anosmia-artropatía neuropática","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"insensibilidad congénita al dolor-anosmia-artropatía neuropática","Spanish_GARD_Synonym__c":"insensibilidad congénita al dolor asociada a scn9a","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":"Channelopathy-associated congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but they cannot sense, for example, that a hot beverage is burning their tongue. Pain is a vital signal that helps people avoid danger and injuries. People who cannot feel pain experience more  injuries and may have shorter life expectancies. The first signs of channelopathy-associated congenital insensitivity to pain often occur when an infant shows no response to stimuli such as an injury or medical procedures like vaccines. Young children with this condition may have wounds from biting or burning themselves. A lack of pain awareness often leads individuals to develop wounds, bruises, broken bones, and other health issues that may go undetected. Long lasting joint injuries (often occurring alongside broken bones) can lead to joint deformities and often the loss of normal use of that body part. Eye injuries that go unnoticed can lead to vision loss. Many people with channelopathy-associated congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Channelopathy-associated congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.","Curated_Disease_Description_Source__c":"GARD:0012267","GARD_Synonym__c":"asymbolia for pain; channelopathy-associated cip; congenital analgesia, autosomal recessive; congenital insensitivity to pain-anosmia-neuropathic arthropathy; insensitivity to pain, channelopathy-associated; insensitivity to pain, congenital; scn9a-related congenital insensitivity to pain","Name":"Channelopathy-associated congenital insensitivity to pain, autosomal recessive","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.org"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88642"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020075"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0027889"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1855739"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012267","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK481553","Source__c":"Gene Review","Xref__c":"NBK481553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK49247","Source__c":"Gene Review","Xref__c":"NBK49247"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855739","Source__c":"C1855739","Xref__c":"C1855739"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344563","Source__c":"C1855739","Xref__c":"MEDGEN:344563"},{"URL__c":"https://www.omim.org/entry/243000","Source__c":"C1855739; MONDO:0009459; ORPHA:88642","Xref__c":"OMIM:243000"},{"URL__c":"https://www.orpha.net/en/disease/detail/88642","Source__c":"C1855739; MONDO:0009459","Xref__c":"ORPHA:88642"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009459","Source__c":"GARD:0012267","Xref__c":"MONDO:0009459"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125386","Source__c":"C1855739","Xref__c":"C125386"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN9A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn9a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"An increased tendency to fractures following trauma, with fractures occurring without pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002661","HPO_Synonym__c":"Painless fractures due to injury","HPO_Name__c":"Painless fractures due to injury","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004409","HPO_Synonym__c":"Decreased smell sensation; Sense of smell impaired","HPO_Name__c":"Hyposmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007021","HPO_Synonym__c":"Absence of pain sensation","HPO_Name__c":"Pain insensitivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243000","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["asymbolia for pain"," channelopathy-associated cip"," congenital analgesia, autosomal recessive"," congenital insensitivity to pain-anosmia-neuropathic arthropathy"," insensitivity to pain, channelopathy-associated"," insensitivity to pain, congenital"," scn9a-related congenital insensitivity to pain"],"spanishId":12147,"spanishName":"insensibilidad-congenita-al-dolor"}