{"Name":"Knuckle pads, deafness AND leukonychia syndrome","DiseaseID__c":"GARD:0003125","id":3125,"encodedName":"knuckle-pads-deafness-and-leukonychia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Knuckle pads, deafness AND leukonychia syndrome","Xref_IDs__c":"1271009; C0266004; C537210; DOID:0050658; MEDGEN:82727; MONDO:0007866; OMIM:149200; ORPHA:2698","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2698","Disease_Description__c":"A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.","GARD_Name__c":"Knuckle pads, deafness AND leukonychia syndrome","GARD_Synonym__c":"bart-pumphrey syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; knuckle pads, leukonychia, and sensorineural deafness; knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome","Curated_Disease_Description_Source__c":"ORPHA:2698","Curated_Disease_Description__c":"Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood. The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2698","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007866","ORPHANET_ID__c":"ORPHA:2698","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de almohadillas de nudillo-leuconiquia-sordera neurosensorial-hiperqueratosis palmoplantar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de almohadillas de nudillo-leuconiquia-sordera neurosensorial-hiperqueratosis palmoplantar","Spanish_GARD_Synonym__c":"síndrome de bart-pumphrey; síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-hiperqueratosis palmoplantar; síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-queratodermia palmoplantar; síndrome de nódulos callosos-leuconiquia-sordera neurosensorial-queratodermia palmoplantar","Category_Linearization__c":"ORPHA:89826","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":"Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood. The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.","Curated_Disease_Description_Source__c":"ORPHA:2698","GARD_Synonym__c":"bart-pumphrey syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; knuckle pads, leukonychia, and sensorineural deafness; knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome","Name":"Knuckle pads, deafness AND leukonychia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2698"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0266004"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003125","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82727","Source__c":"C0266004","Xref__c":"MEDGEN:82727"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1271009","Source__c":"C0266004; MONDO:0007866","Xref__c":"1271009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266004","Source__c":"C0266004","Xref__c":"C0266004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050658","Source__c":"MONDO:0007866","Xref__c":"DOID:0050658"},{"URL__c":"https://www.orpha.net/en/disease/detail/2698","Source__c":"C0266004; MONDO:0007866; ORPHA:2698","Xref__c":"ORPHA:2698"},{"URL__c":"https://www.omim.org/entry/149200","Source__c":"C0266004; MONDO:0007866; ORPHA:2698","Xref__c":"OMIM:149200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537210","Source__c":"MONDO:0007866","Xref__c":"C537210"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007866","Source__c":"GARD:0003125","Xref__c":"MONDO:0007866"},{"URL__c":"https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome","Source__c":"GARD:0003125","Xref__c":"https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Hearing loss, congenital sensorineural","HPO_Name__c":"Congenital sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032541","HPO_Synonym__c":"DDN; Dorsal dupuytren nodules; Knuckle pads on dorsal aspect of finger joints","HPO_Name__c":"Knuckle pad","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2698","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"White discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001820","HPO_Synonym__c":"White discoloration of nails","HPO_Name__c":"Leukonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["bart-pumphrey syndrome"," knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"," knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome"," knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome"," knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"," knuckle pads, leukonychia, and sensorineural deafness"," knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome"]}