{"Name":"Hereditary insensitivity to pain with anhidrosis","DiseaseID__c":"GARD:0003006","id":3006,"encodedName":"hereditary-insensitivity-to-pain-with-anhidrosis","IsDeleted":false,"Disease_Name_Full__c":"Hereditary insensitivity to pain with anhidrosis","Xref_IDs__c":"62985007; C0020074; C118633; DOID:0070146; MEDGEN:6915; MONDO:0009746; OMIM:256800; ORPHA:642","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","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":3,"Description_Source__c":"MONDO:0009746","Disease_Description__c":"A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.","GARD_Name__c":"Hereditary insensitivity to pain with anhidrosis","GARD_Synonym__c":"autosomal recessive hereditary sensory neuropathy; cip-anhidrosis syndrome; cipa; congenital insensitivity to pain with anhidrosis; congenital insensitivity to pain-anhidrosis syndrome; congenital insensitivity to pain, anhidrosis and mental retardation; congenital sensory neuropathy with anhidrosis; familial dysautonomia, type ii; hereditary sensory and autonomic neuropathy caused by mutation in ntrk1; hereditary sensory and autonomic neuropathy type 4; hereditary sensory and autonomic neuropathy type iv; hereditary sensory and autonomic neuropathy, type iv; hereditary sensory neuropathy type iv; hsan iv; hsan type iv; hsan4; insensitivity to pain, congenital, with anhidrosis; neuropathy, congenital sensory, with anhidrosis; ntrk1 hereditary sensory and autonomic neuropathy; swanson-buchanan-alvord neuropathy syndrome","Curated_Disease_Description_Source__c":"GARD:0003006","Curated_Disease_Description__c":"Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009746","ORPHANET_ID__c":"ORPHA:642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 4","Spanish_Description_Source__c":"ORPHA:642","Spanish_Description__c":"Es una neuropatía hereditaria sensitiva y autonómica poco frecuente caracterizada por anhidrosis, insensibilidad al dolor, comportamiento autolesivo y episodios de fiebre.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 4","Spanish_GARD_Synonym__c":"hsan4; neuropatía sensitiva autonómica hereditaria tipo iv; síndrome cip-anhidrosis; síndrome de insensibilidad congénita al dolor-anhidrosis","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":"Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.","Curated_Disease_Description_Source__c":"GARD:0003006","GARD_Synonym__c":"autosomal recessive hereditary sensory neuropathy; cip-anhidrosis syndrome; cipa; congenital insensitivity to pain with anhidrosis; congenital insensitivity to pain-anhidrosis syndrome; congenital insensitivity to pain, anhidrosis and mental retardation; congenital sensory neuropathy with anhidrosis; familial dysautonomia, type ii; hereditary sensory and autonomic neuropathy caused by mutation in ntrk1; hereditary sensory and autonomic neuropathy type 4; hereditary sensory and autonomic neuropathy type iv; hereditary sensory and autonomic neuropathy, type iv; hereditary sensory neuropathy type iv; hsan iv; hsan type iv; hsan4; insensitivity to pain, congenital, with anhidrosis; neuropathy, congenital sensory, with anhidrosis; ntrk1 hereditary sensory and autonomic neuropathy; swanson-buchanan-alvord neuropathy syndrome","Name":"Hereditary insensitivity to pain with anhidrosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Infancy","Provided_By__c":"ORPHA:642"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:642"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:642"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020074"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003006","Source__c":"RareSource"},{"URL__c":"https://ui.transltr.io/demo/disease/MONDO:0009746","Source__c":"Biomedical Data Translator","Xref__c":"9746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK481553","Xref__c":"NBK481553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1769","Source__c":"Gene Review","Xref__c":"NBK1769"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020074","Source__c":"C0020074","Xref__c":"C0020074"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118633","Source__c":"C0020074; MONDO:0009746","Xref__c":"C118633"},{"URL__c":"https://www.omim.org/entry/256800","Source__c":"C0020074; MONDO:0009746; ORPHA:642","Xref__c":"OMIM:256800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62985007","Source__c":"C0020074; MONDO:0009746","Xref__c":"62985007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6915","Source__c":"C0020074","Xref__c":"MEDGEN:6915"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070146","Source__c":"MONDO:0009746","Xref__c":"DOID:0070146"},{"URL__c":"https://www.orpha.net/en/disease/detail/642","Source__c":"C0020074; MONDO:0009746; ORPHA:642","Xref__c":"ORPHA:642"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis","Source__c":"GARD:0003006","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009746","Source__c":"GARD:0003006","Xref__c":"MONDO:0009746"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NTRK1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ntrk1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced attention span characterized by distractibility and impulsivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000736","HPO_Synonym__c":"Easily distracted; Easy distractibility; High distractibility; Poor attention span; Problem paying attention; Short attention span","HPO_Name__c":"Short attention span","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced body temperature due to failed thermoregulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002045","HPO_Synonym__c":"Abnormally low body temperature; Hypothermia","HPO_Name__c":"Hypothermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100491","HPO_Synonym__c":"Abnormality of lower limb joint; Abnormality of the joints of the lower limbs","HPO_Name__c":"Abnormality of lower limb joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003134","HPO_Synonym__c":"Sensory and motor nerve conduction abnormalities","HPO_Name__c":"Abnormality of peripheral nerve conduction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Trophic changes occurring in a limb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003091","HPO_Name__c":"Trophic limb changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000742","HPO_Synonym__c":"Deliberate self-harm; Self mutilation; Self-mutilation","HPO_Name__c":"Self-mutilation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Habitual biting of one's own fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012170","HPO_Synonym__c":"Nail-biting; Onychophagia; Onychophagy","HPO_Name__c":"Nail-biting","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","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":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100851","HPO_Name__c":"Abnormal emotional state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","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:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","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:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the lumbar vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100712","HPO_Synonym__c":"Abnormality of the lumbar spine","HPO_Name__c":"Abnormal lumbar spine morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002821","HPO_Synonym__c":"Charcot arthropathy; Charcot joint","HPO_Name__c":"Neuropathic arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of fascia, the tissue under the skin and over the muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100537","HPO_Synonym__c":"Inflammation of the fascia","HPO_Name__c":"Fasciitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011136","HPO_Synonym__c":"Absent sweat glands; Lack of sweat glands","HPO_Name__c":"Aplasia of the sweat glands","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100725","HPO_Name__c":"Lichenification","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002100","HPO_Synonym__c":"Recurrent pneumonia due to aspiration,","HPO_Name__c":"Recurrent aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006480","HPO_Synonym__c":"Early tooth loss; Loss of teeth; Premature teeth loss; Premature tooth loss","HPO_Name__c":"Premature loss of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008000","HPO_Synonym__c":"Decreased blink reflex; Reduced corneal reflex","HPO_Name__c":"Decreased corneal reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002726","HPO_Synonym__c":"Staphylococcus aureus infections, recurrent","HPO_Name__c":"Recurrent Staphylococcus aureus infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100710","HPO_Synonym__c":"Impulsive; Impulsivity","HPO_Name__c":"Impulsivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004926","HPO_Name__c":"Orthostatic hypotension due to autonomic dysfunction","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003095","HPO_Name__c":"Septic arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abscess is a localized collection of purulent material surrounded by inflammation and granulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025615","HPO_Name__c":"Abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased width of the alveolar ridges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009085","HPO_Synonym__c":"Alveolar ridge excess; Enlarged alveolar ridge; Hyperplasia of alveolar process of jaw; Hyperplasia of alveolar ridge; Increased size of alveolar ridge; Overgrowth of alveolar ridge; Overgrowth of gum ridge; Thick alveolar ridges; Thickened alveolar ridges","HPO_Name__c":"Alveolar ridge overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003272","HPO_Synonym__c":"Abnormality of the hip bone; Abnormality of the hips","HPO_Name__c":"Abnormal hip bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030811","HPO_Synonym__c":"Painful tongue","HPO_Name__c":"Tongue pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","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":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pocket of pus located within a region of a tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030757","HPO_Synonym__c":"Dental abscess; Dentoalveolar abscess","HPO_Name__c":"Tooth abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Episodes of fever for which no infectious cause can be identified.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001955","HPO_Synonym__c":"Unexplained fevers","HPO_Name__c":"Unexplained fevers","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005368","HPO_Synonym__c":"Defective humoral immunity","HPO_Name__c":"Abnormality of humoral immunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:642","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100963","HPO_Synonym__c":"Hyperaesthesia","HPO_Name__c":"Hyperesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive hereditary sensory neuropathy"," cip-anhidrosis syndrome"," cipa"," congenital insensitivity to pain with anhidrosis"," congenital insensitivity to pain-anhidrosis syndrome"," congenital insensitivity to pain, anhidrosis and mental retardation"," congenital sensory neuropathy with anhidrosis"," familial dysautonomia, type ii"," hereditary sensory and autonomic neuropathy caused by mutation in ntrk1"," hereditary sensory and autonomic neuropathy type 4"," hereditary sensory and autonomic neuropathy type iv"," hereditary sensory and autonomic neuropathy, type iv"," hereditary sensory neuropathy type iv"," hsan iv"," hsan type iv"," hsan4"," insensitivity to pain, congenital, with anhidrosis"," neuropathy, congenital sensory, with anhidrosis"," ntrk1 hereditary sensory and autonomic neuropathy"," swanson-buchanan-alvord neuropathy syndrome"],"spanishId":12898,"spanishName":"insensibilidad-congenita-al-dolor-con-anhidrosis"}