{"Name":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","DiseaseID__c":"GARD:0017977","id":17977,"encodedName":"palmoplantar-keratoderma-hereditary-motor-and-sensory-neuropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","Xref_IDs__c":"C1835671; C536153; MEDGEN:322722; MONDO:0007853; OMIM:148360; ORPHA:538574","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:538574","Disease_Description__c":"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.","GARD_Name__c":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","GARD_Synonym__c":"axonal neuropathy with palmoplantar keratoderma; charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy; keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy; palmoplantar keratoderma-charcot-marie-tooth syndrome; palmoplantar keratoderma, charcot-marie-tooth syndrome; palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome","Curated_Disease_Description_Source__c":"ORPHA:538574","Curated_Disease_Description__c":"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near-normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:538574","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007853","ORPHANET_ID__c":"ORPHA:538574","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratodermia palmoplantar-neuropatía sensitivo-motora hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de queratodermia palmoplantar-neuropatía sensitivo-motora hereditaria","Spanish_GARD_Synonym__c":"síndrome de queratodermia palmoplantar-charcot-marie-tooth","Category_Linearization__c":"ORPHA:93890","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, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near-normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.","Curated_Disease_Description_Source__c":"ORPHA:538574","GARD_Synonym__c":"axonal neuropathy with palmoplantar keratoderma; charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy; keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy; palmoplantar keratoderma-charcot-marie-tooth syndrome; palmoplantar keratoderma, charcot-marie-tooth syndrome; palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome","Name":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy 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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Infancy","Provided_By__c":"ORPHA:538574"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:538574"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:538574"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/148360","Source__c":"C1835671; MONDO:0007853; ORPHA:538574","Xref__c":"OMIM:148360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322722","Source__c":"C1835671","Xref__c":"MEDGEN:322722"},{"URL__c":"https://www.orpha.net/en/disease/detail/538574","Source__c":"C1835671; MONDO:0007853; ORPHA:538574","Xref__c":"ORPHA:538574"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835671","Source__c":"C1835671","Xref__c":"C1835671"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536153","Source__c":"MONDO:0007853","Xref__c":"C536153"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007853","Source__c":"GARD:0017977","Xref__c":"MONDO:0007853"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222646006","Source__c":"C1835671","Xref__c":"1222646006"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Dermatology","Pediatrics"],"Account":["Dermatology","Peripheral Neuropathy"]},"synonyms":["axonal neuropathy with palmoplantar keratoderma"," charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy"," keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy"," palmoplantar keratoderma-charcot-marie-tooth syndrome"," palmoplantar keratoderma, charcot-marie-tooth syndrome"," palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome"]}