{"Name":"Palmoplantar keratoderma, Bothnian type","DiseaseID__c":"GARD:0001862","id":1862,"encodedName":"palmoplantar-keratoderma-bothnian-type","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma, Bothnian type","Xref_IDs__c":"C1838359; DOID:0111707; MEDGEN:325011; MONDO:0010849; OMIM:600231; ORPHA:2337","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2337","Disease_Description__c":"A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.","GARD_Name__c":"Palmoplantar keratoderma, Bothnian type","GARD_Synonym__c":"autosomal dominant diffuse palmoplantar keratoderma, norrbotten type; diffuse palmoplantar keratoderma, bothnian type; neppk; non-epidermolytic palmoplantar keratoderma","Curated_Disease_Description_Source__c":"ORPHA:2337","Curated_Disease_Description__c":"A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2337","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010849","ORPHANET_ID__c":"ORPHA:2337","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar difusa tipo botnia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratodermia palmoplantar difusa tipo botnia","Spanish_GARD_Synonym__c":"neppk tipo botnia","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":"A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.","Curated_Disease_Description_Source__c":"ORPHA:2337","GARD_Synonym__c":"autosomal dominant diffuse palmoplantar keratoderma, norrbotten type; diffuse palmoplantar keratoderma, bothnian type; neppk; non-epidermolytic palmoplantar keratoderma","Name":"Palmoplantar keratoderma, Bothnian type","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2337"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2337"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001862","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325011","Source__c":"C1838359","Xref__c":"MEDGEN:325011"},{"URL__c":"https://www.omim.org/entry/600231","Source__c":"C1838359; MONDO:0010849; ORPHA:2337","Xref__c":"OMIM:600231"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111707","Source__c":"MONDO:0010849","Xref__c":"DOID:0111707"},{"URL__c":"https://www.orpha.net/en/disease/detail/2337","Source__c":"C1838359; MONDO:0010849; ORPHA:2337","Xref__c":"ORPHA:2337"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838359","Source__c":"C1838359","Xref__c":"C1838359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010849","Source__c":"GARD:0001862","Xref__c":"MONDO:0010849"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AQP5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001807","HPO_Synonym__c":"Grooved nails; Longitudinal ridging; Nail ridging","HPO_Name__c":"Ridged nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Frequent (30-79%)","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:2337","HPO_Frequency__c":"Frequent (30-79%)","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse abnormal thickening of the skin on the palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007447","HPO_Synonym__c":"Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar","HPO_Name__c":"Diffuse palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032259","HPO_Name__c":"Chronic tinea infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Very frequent (80-99%)","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:2337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["autosomal dominant diffuse palmoplantar keratoderma, norrbotten type"," diffuse palmoplantar keratoderma, bothnian type"," neppk"," non-epidermolytic palmoplantar keratoderma"]}