{"Name":"Congenital insensitivity to pain-hypohidrosis syndrome","DiseaseID__c":"GARD:0017866","id":17866,"encodedName":"congenital-insensitivity-to-pain-hypohidrosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital insensitivity to pain-hypohidrosis syndrome","Xref_IDs__c":"C4225308; DOID:0070153; MEDGEN:894363; MONDO:0014662; OMIM:616488; ORPHA:478664","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014662","Disease_Description__c":"A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.","GARD_Name__c":"Congenital insensitivity to pain-hypohidrosis syndrome","GARD_Synonym__c":"cip-hypohidrosis syndrome; hereditary sensory and autonomic neuropathy type 8; hereditary sensory and autonomic neuropathy type viii; hsan viii; hsan8; hsan8 - hereditary sensory and autonomic neuropathy type 8; neuropathy, hereditary sensory and autonomic, type viii","Curated_Disease_Description_Source__c":"ORPHA:478664","Curated_Disease_Description__c":"A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:478664","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014662","ORPHANET_ID__c":"ORPHA:478664","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 8","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 8","Spanish_GARD_Synonym__c":"hsan8; neuropatía sensitiva autonómica hereditaria tipo viii; síndrome de cip-hipohidrosis; síndrome de insensibilidad congénita al dolor-hipohidrosis","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":"A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.","Curated_Disease_Description_Source__c":"ORPHA:478664","GARD_Synonym__c":"cip-hypohidrosis syndrome; hereditary sensory and autonomic neuropathy type 8; hereditary sensory and autonomic neuropathy type viii; hsan viii; hsan8; hsan8 - hereditary sensory and autonomic neuropathy type 8; neuropathy, hereditary sensory and autonomic, type viii","Name":"Congenital insensitivity to pain-hypohidrosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:478664"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK481553","Source__c":"Gene Review","Xref__c":"NBK481553"},{"URL__c":"https://www.orpha.net/en/disease/detail/478664","Source__c":"C4225308; MONDO:0014662; ORPHA:478664","Xref__c":"ORPHA:478664"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=894363","Source__c":"C4225308","Xref__c":"MEDGEN:894363"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070153","Source__c":"MONDO:0014662","Xref__c":"DOID:0070153"},{"URL__c":"https://www.omim.org/entry/616488","Source__c":"C4225308; MONDO:0014662; ORPHA:478664","Xref__c":"OMIM:616488"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225308","Source__c":"C4225308","Xref__c":"C4225308"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172838005","Source__c":"C4225308","Xref__c":"1172838005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014662","Source__c":"GARD:0017866","Xref__c":"MONDO:0014662"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRDM12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616488","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:616488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Frequent (30-79%)","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:616488","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased ability to perceive touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033748","HPO_Synonym__c":"Numbness","HPO_Name__c":"Hypoesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A loss or impairment of the sensation of the relative position of parts of the body and joint position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010831","HPO_Synonym__c":"Abnormality of proprioception","HPO_Name__c":"Impaired proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616488","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally decreased lacrimation, that is, reduced tear production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000633","HPO_Synonym__c":"Decreased tear secretion; Hypolacrimia","HPO_Name__c":"Decreased lacrimation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["cip-hypohidrosis syndrome"," hereditary sensory and autonomic neuropathy type 8"," hereditary sensory and autonomic neuropathy type viii"," hsan viii"," hsan8"," hsan8 - hereditary sensory and autonomic neuropathy type 8"," neuropathy, hereditary sensory and autonomic, type viii"]}