{"Name":"Palmoplantar keratoderma-deafness syndrome","DiseaseID__c":"GARD:0003094","id":3094,"encodedName":"palmoplantar-keratoderma-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma-deafness syndrome","Xref_IDs__c":"C1835672; C536152; DOID:0111505; MEDGEN:332030; MONDO:0007852; OMIM:148350; ORPHA:2202","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007852","Disease_Description__c":"Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.","GARD_Name__c":"Palmoplantar keratoderma-deafness syndrome","GARD_Synonym__c":"diffuse palmoplantar keratoderma with deafness (subtype); focal palmoplantar keratoderma with sensorineural deafness (subtype); hereditary palmoplantar keratoderma with deafness (subtype); keratoderma palmoplantar, with deafness; palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma and sensorineural deafness; palmoplantar keratoderma with deafness syndrome; palmoplantar keratoderma-hearing loss syndrome; ppk-deafness syndrome","Curated_Disease_Description_Source__c":"MONDO:0007852","Curated_Disease_Description__c":"Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2202","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007852","ORPHANET_ID__c":"ORPHA:2202","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratodermia palmoplantar-sordera","Spanish_Description_Source__c":"ORPHA:2202","Spanish_Description__c":"Es un trastorno de queratinización caracterizado por queratodermia palmoplantar focal o difusa. Se observa una distribución parcheada, más marcada en las áreas tenar e hipotenar y en los arcos plantares. La enfermedad se manifiesta en la lactancia y se asocia a pérdida auditiva neurosensorial que muestra una edad variable de inicio. Debido a las similitudes genéticas y clínicas, se ha propuesto que tanto el síndrome de queratodermia palmoplantar - sordera, el síndrome de almohadillas de nudillo - leuconiquia - sordera neurosensorial - hiperqueratosis palmoplantar y la queratodermia hereditaria mutilante pueden representar variantes de un trastorno amplio de sordera sindrómica con fenotipo heterogéneo. La enfermedad se transmite siguiendo un patrón autosómico dominante de penetrancia incompleta.","Spanish_Disease_Name__c":"síndrome de queratodermia palmoplantar-sordera","Spanish_GARD_Synonym__c":"síndrome de hiperqueratosis palmoplantar-hipoacusia; síndrome de hiperqueratosis palmoplantar-sordera; síndrome de queratodermia palmoplantar-hipoacusia; síndrome ppk-sordera","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":"Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0007852","GARD_Synonym__c":"diffuse palmoplantar keratoderma with deafness (subtype); focal palmoplantar keratoderma with sensorineural deafness (subtype); hereditary palmoplantar keratoderma with deafness (subtype); keratoderma palmoplantar, with deafness; palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma and sensorineural deafness; palmoplantar keratoderma with deafness syndrome; palmoplantar keratoderma-hearing loss syndrome; ppk-deafness syndrome","Name":"Palmoplantar keratoderma-deafness 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/"}],"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:2202"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835672"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003094","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2202","Source__c":"C1835672; MONDO:0007852; ORPHA:2202","Xref__c":"ORPHA:2202"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332030","Source__c":"C1835672","Xref__c":"MEDGEN:332030"},{"URL__c":"https://www.omim.org/entry/148350","Source__c":"C1835672; MONDO:0007852; ORPHA:2202","Xref__c":"OMIM:148350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835672","Source__c":"C1835672","Xref__c":"C1835672"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111505","Source__c":"MONDO:0007852","Xref__c":"DOID:0111505"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536152","Source__c":"MONDO:0007852","Xref__c":"C536152"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722203001","Source__c":"C1835672","Xref__c":"722203001"},{"URL__c":"https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness","Source__c":"GARD:0003094","Xref__c":"https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007852","Source__c":"GARD:0003094","Xref__c":"MONDO:0007852"}],"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":["Mitochondrial inheritance","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2202","HPO_Frequency__c":"Very frequent (80-99%)","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:2202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Otolaryngology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["diffuse palmoplantar keratoderma with deafness (subtype)"," focal palmoplantar keratoderma with sensorineural deafness (subtype)"," hereditary palmoplantar keratoderma with deafness (subtype)"," keratoderma palmoplantar, with deafness"," palmoplantar hyperkeratosis-deafness syndrome"," palmoplantar hyperkeratosis-hearing loss syndrome"," palmoplantar keratoderma and sensorineural deafness"," palmoplantar keratoderma with deafness syndrome"," palmoplantar keratoderma-hearing loss syndrome"," ppk-deafness syndrome"]}