{"Name":"Hereditary sensory and autonomic neuropathy type 7","DiseaseID__c":"GARD:0012732","id":12732,"encodedName":"hereditary-sensory-and-autonomic-neuropathy-type-7","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sensory and autonomic neuropathy type 7","Xref_IDs__c":"783550006; C125388; C3809882; DOID:0070149; MEDGEN:816212; MONDO:0014244; OMIM:615548; ORPHA:391397","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"MONDO:0014244","Disease_Description__c":"Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'","GARD_Name__c":"Hereditary sensory and autonomic neuropathy type 7","GARD_Synonym__c":"autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a; cip with hyperhidrosis and gastrointestinal dysfunction; congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; hereditary sensory and autonomic neuropathy type vii; hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction; hsan vii; hsan with hyperhidrosis and gastrointestinal dysfunction; hsan7; hsan7- hereditary sensory and autonomic neuropathy type 7; neuropathy, hereditary sensory and autonomic, type vii; scn11a autosomal dominant hereditary sensory and autonomic neuropathy","Curated_Disease_Description_Source__c":"GARD:0012732","Curated_Disease_Description__c":"Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. HSAN7 is caused by a genetic change in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called \"autosomal dominant.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:391397","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014244","ORPHANET_ID__c":"ORPHA:391397","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 7","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 7","Spanish_GARD_Synonym__c":"cip con hiperhidrosis y disfunción gastrointestinal; hsan con hiperhidrosis y disfunción gastrointestinal; hsan7; insensibilidad congénita al dolor con hiperhidrosis y disfunción gastrointestinal; neuropatía sensitiva autonómica hereditaria con hiperhidrosis y disfunción gastrointestinal; neuropatía sensitiva autonómica hereditaria tipo vii","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":"Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. HSAN7 is caused by a genetic change in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called \"autosomal dominant.\"","Curated_Disease_Description_Source__c":"GARD:0012732","GARD_Synonym__c":"autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a; cip with hyperhidrosis and gastrointestinal dysfunction; congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; hereditary sensory and autonomic neuropathy type vii; hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction; hsan vii; hsan with hyperhidrosis and gastrointestinal dysfunction; hsan7; hsan7- hereditary sensory and autonomic neuropathy type 7; neuropathy, hereditary sensory and autonomic, type vii; scn11a autosomal dominant hereditary sensory and autonomic neuropathy","Name":"Hereditary sensory and autonomic neuropathy type 7","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:391397"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:391397"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3809882"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012732","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/medgen/?term=816212","Source__c":"C3809882","Xref__c":"MEDGEN:816212"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125388","Source__c":"C3809882; MONDO:0014244","Xref__c":"C125388"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809882","Source__c":"C3809882","Xref__c":"C3809882"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070149","Source__c":"MONDO:0014244","Xref__c":"DOID:0070149"},{"URL__c":"https://www.orpha.net/en/disease/detail/391397","Source__c":"C3809882; MONDO:0014244; ORPHA:391397","Xref__c":"ORPHA:391397"},{"URL__c":"https://www.omim.org/entry/615548","Source__c":"C3809882; MONDO:0014244; ORPHA:391397","Xref__c":"OMIM:615548"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783550006","Source__c":"C3809882","Xref__c":"783550006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014244","Source__c":"GARD:0012732","Xref__c":"MONDO:0014244"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN11A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615548","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","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:615548","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615548","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a"," cip with hyperhidrosis and gastrointestinal dysfunction"," congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction"," hereditary sensory and autonomic neuropathy type vii"," hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"," hsan vii"," hsan with hyperhidrosis and gastrointestinal dysfunction"," hsan7"," hsan7- hereditary sensory and autonomic neuropathy type 7"," neuropathy, hereditary sensory and autonomic, type vii"," scn11a autosomal dominant hereditary sensory and autonomic neuropathy"]}