{"Name":"Congenital sensory neuropathy with selective loss of small myelinated fibers","DiseaseID__c":"GARD:0012328","id":12328,"encodedName":"congenital-sensory-neuropathy-with-selective-loss-of-small-myelinated-fibers","IsDeleted":false,"Disease_Name_Full__c":"Congenital sensory neuropathy with selective loss of small myelinated fibers","Xref_IDs__c":"128206006; C0020075; C156360; DOID:0070145; MEDGEN:6916; MONDO:0012092; OMIM:608654; ORPHA:64752","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012092","Disease_Description__c":"A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.","GARD_Name__c":"Congenital sensory neuropathy with selective loss of small myelinated fibers","GARD_Synonym__c":"autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf; congenital insensitivity to pain and thermal analgesia; hereditary sensory and autonomic neuropathy type 5; hereditary sensory and autonomic neuropathy type v; hereditary sensory and autonomic neuropathy, type v; hsan type v; hsan v; hsan5; insensitivity to pain, congenital; ngf autosomal recessive hereditary sensory and autonomic neuropathy","Curated_Disease_Description_Source__c":"GARD:0012328","Curated_Disease_Description__c":"Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.","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:64752","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012092","ORPHANET_ID__c":"ORPHA:64752","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 5","Spanish_Description_Source__c":"ORPHA:64752","Spanish_Description__c":"Es un trastorno caracterizado por la pérdida de percepción al dolor y la afectación en la sensibilidad a la temperatura, en ausencia de otra anomalía neurológica mayor.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 5","Spanish_GARD_Synonym__c":"cip; hsan5; insensibilidad congénita al dolor y analgesia térmica; neuropatía sensitiva autonómica hereditaria tipo v","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 V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.","Curated_Disease_Description_Source__c":"GARD:0012328","GARD_Synonym__c":"autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf; congenital insensitivity to pain and thermal analgesia; hereditary sensory and autonomic neuropathy type 5; hereditary sensory and autonomic neuropathy type v; hereditary sensory and autonomic neuropathy, type v; hsan type v; hsan v; hsan5; insensitivity to pain, congenital; ngf autosomal recessive hereditary sensory and autonomic neuropathy","Name":"Congenital sensory neuropathy with selective loss of small myelinated fibers","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:64752"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:64752"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012328","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK481553","Source__c":"Gene Review","Xref__c":"NBK481553"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020075","Source__c":"C0020075","Xref__c":"C0020075"},{"URL__c":"https://www.orpha.net/en/disease/detail/64752","Source__c":"C0020075; MONDO:0012092; ORPHA:64752","Xref__c":"ORPHA:64752"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6916","Source__c":"C0020075","Xref__c":"MEDGEN:6916"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070145","Source__c":"MONDO:0012092","Xref__c":"DOID:0070145"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128206006","Source__c":"C0020075; MONDO:0012092","Xref__c":"128206006"},{"URL__c":"https://www.omim.org/entry/608654","Source__c":"C0020075; MONDO:0012092; ORPHA:64752","Xref__c":"OMIM:608654"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C156360","Source__c":"C0020075","Xref__c":"C156360"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-v","Source__c":"GARD:0012328","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-v"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012092","Source__c":"GARD:0012328","Xref__c":"MONDO:0012092"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NGF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ngf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the gingiva (also known as gums).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000168","HPO_Synonym__c":"Abnormality of the gums; Gingival abnormality","HPO_Name__c":"Abnormality of the gingiva","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:64752","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007249","HPO_Name__c":"Decreased number of small peripheral myelinated nerve fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf"," congenital insensitivity to pain and thermal analgesia"," hereditary sensory and autonomic neuropathy type 5"," hereditary sensory and autonomic neuropathy type v"," hereditary sensory and autonomic neuropathy, type v"," hsan type v"," hsan v"," hsan5"," insensitivity to pain, congenital"," ngf autosomal recessive hereditary sensory and autonomic neuropathy"]}