{"Name":"Diffuse nonepidermolytic palmoplantar keratoderma","DiseaseID__c":"GARD:0005186","id":5186,"encodedName":"diffuse-nonepidermolytic-palmoplantar-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Diffuse nonepidermolytic palmoplantar keratoderma","Xref_IDs__c":"716105001; C1833030; DOID:0050428; DOID:0070550; MEDGEN:371463; MONDO:0010962; OMIM:600962; ORPHA:530838","USA_Estimate__c":null,"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":null,"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":"MONDO:0010962","Disease_Description__c":"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.","GARD_Name__c":"Diffuse nonepidermolytic palmoplantar keratoderma","GARD_Synonym__c":"diffuse palmoplantar keratoderma, bothnian type; krt1-related diffuse nonepidermolytic keratoderma; neppk; non-epidermolytic palmoplantar keratoderma; nonepidermolytic palmoplantar hyperkeratosis; nonepidermolytic palmoplantar keratoderma; palmoplantar keratoderma, nonepidermolytic","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"KRT1-related diffuse nonepidermolytic keratoderma (Unna-Thost palmoplantar keratoderma) is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. KRT1-related diffuse nonepidermolytic keratoderma is inherited in an autosomal dominant fashion and caused by genetic changes in the KRT1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:530838","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010962","ORPHANET_ID__c":"ORPHA:530838","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia difusa no epidermolítica asociada a krt1","Spanish_Description_Source__c":"ORPHA:530838","Spanish_Description__c":"Es una queratodermia palmoplantar difusa, aislada, de origen genético y poco frecuente localizada en palmas y plantas, caracterizada por una hiperqueratosis difusa moderada a gruesa, bien delimitada. Otros hallazgos clínicos adicionales incluyen, una queratosis en el dorso de los dedos de las manos, hiperqueratosis umbilical y en las areolas, piel seca difusa, hiperhidrosis, padrastros y frecuentes infecciones fúngicas. El examen histológico de las lesiones revela hiperqueratosis ortoqueratósica, acantosis, hipergranulosis y un leve infiltrado linfocitario en la dermis superior sin evidencia de epidermólisis.","Spanish_Disease_Name__c":"queratodermia difusa no epidermolítica asociada a krt1","Spanish_GARD_Synonym__c":"neppk difusa asociada a krt1","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":"KRT1-related diffuse nonepidermolytic keratoderma (Unna-Thost palmoplantar keratoderma) is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. KRT1-related diffuse nonepidermolytic keratoderma is inherited in an autosomal dominant fashion and caused by genetic changes in the KRT1 gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"diffuse palmoplantar keratoderma, bothnian type; krt1-related diffuse nonepidermolytic keratoderma; neppk; non-epidermolytic palmoplantar keratoderma; nonepidermolytic palmoplantar hyperkeratosis; nonepidermolytic palmoplantar keratoderma; palmoplantar keratoderma, nonepidermolytic","Name":"Diffuse nonepidermolytic palmoplantar keratoderma","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:530838"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:530838"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005186","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/600962","Source__c":"C1833030; MONDO:0010962; ORPHA:530838","Xref__c":"OMIM:600962"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716105001","Source__c":"MONDO:0010962","Xref__c":"716105001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833030","Source__c":"C1833030","Xref__c":"C1833030"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050428","Source__c":"MONDO:0010962","Xref__c":"DOID:0050428"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070550","Source__c":"MONDO:0010962","Xref__c":"DOID:0070550"},{"URL__c":"https://www.orpha.net/en/disease/detail/530838","Source__c":"MONDO:0010962","Xref__c":"ORPHA:530838"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371463","Source__c":"C1833030","Xref__c":"MEDGEN:371463"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010962","Source__c":"GARD:0005186","Xref__c":"MONDO:0010962"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007404","Source__c":"C1833030","Xref__c":"HP:0007404"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012203","HPO_Name__c":"Onychomycosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","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:530838","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007404","HPO_Synonym__c":"Nonepidermolytic palmoplantar keratoderma","HPO_Name__c":"Nonepidermolytic palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure or appearance of the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001551","HPO_Synonym__c":"Abnormal belly button; Abnormal navel; Abnormal umbilicus","HPO_Name__c":"Abnormal umbilicus morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006203","HPO_Synonym__c":"Decreased range of movement range in hinge joints","HPO_Name__c":"Decreased movement range in interphalangeal joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the thickness (diameter) of a tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032523","HPO_Name__c":"Tendon thickening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025524","HPO_Name__c":"Palmoplantar scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","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"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects 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:0007446","HPO_Name__c":"Palmoplantar blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","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:530838","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:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The natural longitudinal (posterodistal) convex arch is not present or is inverted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001598","HPO_Synonym__c":"Koilonychia; Spoon-shaped nails","HPO_Name__c":"Concave nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:530838","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal thickening of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004690","HPO_Synonym__c":"Thickened Achilles tendon","HPO_Name__c":"Thickened Achilles tendon","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["diffuse palmoplantar keratoderma, bothnian type"," krt1-related diffuse nonepidermolytic keratoderma"," neppk"," non-epidermolytic palmoplantar keratoderma"," nonepidermolytic palmoplantar hyperkeratosis"," nonepidermolytic palmoplantar keratoderma"," palmoplantar keratoderma, nonepidermolytic"]}