{"Name":"Wooly hair-palmoplantar keratoderma syndrome","DiseaseID__c":"GARD:0017697","id":17697,"encodedName":"wooly-hair-palmoplantar-keratoderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Wooly hair-palmoplantar keratoderma syndrome","Xref_IDs__c":"764108000; C4015202; DOID:0070554; MEDGEN:863639; MONDO:0014492; OMIM:616099; ORPHA:420686","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0014492","Disease_Description__c":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.","GARD_Name__c":"Wooly hair-palmoplantar keratoderma syndrome","GARD_Synonym__c":"keratoderma with woolly hair type iv; keratoderma with wooly hair type iv; kwwh type iv; palmoplantar keratoderma and woolly hair; woolly hair-palmoplantar hyperkeratosis syndrome; woolly hair-palmoplantar keratoderma syndrome; wooly hair-palmoplantar hyperkeratosis syndrome","Curated_Disease_Description_Source__c":"MONDO:0014492","Curated_Disease_Description__c":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.","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:420686","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014492","ORPHANET_ID__c":"ORPHA:420686","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cabello lanoso-queratodermia palmoplantar","Spanish_Description_Source__c":"ORPHA:420686","Spanish_Description__c":"El síndrome de cabello lanoso-queratodermia palmoplantar es un trastorno epidérmico hereditario muy poco frecuente caracterizado por hipotricosis/cabello lanoso, reducción del vello corporal, pestañas y cejas, leuconiquia y queratodermia palmoplantar estriada (más intensa en las plantas de los pies que en las palmas de las manos) que empeora progresivamente con la edad. Se ha descrito asimismo un pseudo-ainhum del quinto dedo del pie. Aunque el síndrome de cabello lanoso-queratodermia palmoplantar comparte similitudes clínicas tanto con la enfermedad de Naxos como con el síndrome de Carvajal, no se asocia a cardiomiopatía.","Spanish_Disease_Name__c":"síndrome de cabello lanoso-queratodermia palmoplantar","Spanish_GARD_Synonym__c":"kwwh tipo iv; queratodermia con pelo lanoso tipo iv; síndrome de pelo lanoso-hiperqueratosis 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":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.","Curated_Disease_Description_Source__c":"MONDO:0014492","GARD_Synonym__c":"keratoderma with woolly hair type iv; keratoderma with wooly hair type iv; kwwh type iv; palmoplantar keratoderma and woolly hair; woolly hair-palmoplantar hyperkeratosis syndrome; woolly hair-palmoplantar keratoderma syndrome; wooly hair-palmoplantar hyperkeratosis syndrome","Name":"Wooly hair-palmoplantar keratoderma 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:420686"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:420686"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:420686"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764108000","Source__c":"MONDO:0014492","Xref__c":"764108000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863639","Source__c":"C4015202","Xref__c":"MEDGEN:863639"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015202","Source__c":"C4015202","Xref__c":"C4015202"},{"URL__c":"https://www.omim.org/entry/616099","Source__c":"C4015202; MONDO:0014492; ORPHA:420686","Xref__c":"OMIM:616099"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070554","Source__c":"MONDO:0014492","Xref__c":"DOID:0070554"},{"URL__c":"https://www.orpha.net/en/disease/detail/420686","Source__c":"C4015202; MONDO:0014492","Xref__c":"ORPHA:420686"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014492","Source__c":"GARD:0017697","Xref__c":"MONDO:0014492"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KANK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kank2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616099","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616099","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":"OMIM:616099","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616099","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616099","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"}},{"Provided_By__c":"OMIM:616099","Feature__r":{"HPO_Description__c":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009775","HPO_Synonym__c":"Amniotic bands; Congenital constriction band sequence; Pseudoainhum","HPO_Name__c":"Amniotic constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616099","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616099","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["keratoderma with woolly hair type iv"," keratoderma with wooly hair type iv"," kwwh type iv"," palmoplantar keratoderma and woolly hair"," woolly hair-palmoplantar hyperkeratosis syndrome"," woolly hair-palmoplantar keratoderma syndrome"," wooly hair-palmoplantar hyperkeratosis syndrome"]}