{"Name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","DiseaseID__c":"GARD:0001139","id":1139,"encodedName":"autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","Xref_IDs__c":"C1859316; C535336; DOID:0111245; MEDGEN:347851; MONDO:0008923; OMIM:212360; ORPHA:1366","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008923","Disease_Description__c":"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.","GARD_Name__c":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","GARD_Synonym__c":"autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia 2; palmoplantar keratoderma and congenital alopecia type 2; palmoplantar keratoderma and congenital alopecia, wallis type; ppk-ca, wallis type; ppkca, wallis type","Curated_Disease_Description_Source__c":"MONDO:0008923","Curated_Disease_Description__c":"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1366","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008923","ORPHANET_ID__c":"ORPHA:1366","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar autosómica recesiva y alopecia congénita","Spanish_Description_Source__c":"ORPHA:1366","Spanish_Description__c":"La queratodermia palmoplantar y alopecia congénita autosómica recesiva (KPP-AC) es un trastorno genético cutáneo poco frecuente, que se caracteriza por alopecia congénita e hiperqueratosis palmoplantar. Suele asociarse a cataratas, esclerodactilia y pseudo-ainhum.","Spanish_Disease_Name__c":"queratodermia palmoplantar autosómica recesiva y alopecia congénita","Spanish_GARD_Synonym__c":"catarata-alopecia-esclerodactilia; hiperqueratosis palmoplantar autosómica recesiva y alopecia congénita; ppk-ca tipo wallis; queratodermia palmoplantar y alopecia congénita tipo wallis","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":"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.","Curated_Disease_Description_Source__c":"MONDO:0008923","GARD_Synonym__c":"autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia 2; palmoplantar keratoderma and congenital alopecia type 2; palmoplantar keratoderma and congenital alopecia, wallis type; ppk-ca, wallis type; ppkca, wallis type","Name":"Autosomal recessive palmoplantar keratoderma and congenital alopecia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1366"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/212360","Source__c":"C1859316; MONDO:0008923; ORPHA:1366","Xref__c":"OMIM:212360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347851","Source__c":"C1859316","Xref__c":"MEDGEN:347851"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859316","Source__c":"C1859316","Xref__c":"C1859316"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535336","Source__c":"MONDO:0008923","Xref__c":"C535336"},{"URL__c":"https://www.orpha.net/en/disease/detail/1366","Source__c":"C1859316; MONDO:0008923; ORPHA:1366","Xref__c":"ORPHA:1366"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111245","Source__c":"MONDO:0008923","Xref__c":"DOID:0111245"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008923","Source__c":"GARD:0001139","Xref__c":"MONDO:0008923"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LSS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of all scalp hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007418","HPO_Name__c":"Alopecia totalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1366","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:1366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["autosomal recessive palmoplantar hyperkeratosis and congenital alopecia"," cataract-alopecia-sclerodactyly syndrome"," palmoplantar keratoderma and congenital alopecia 2"," palmoplantar keratoderma and congenital alopecia type 2"," palmoplantar keratoderma and congenital alopecia, wallis type"," ppk-ca, wallis type"," ppkca, wallis type"]}