{"Name":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","DiseaseID__c":"GARD:0016733","id":16733,"encodedName":"palmoplantar-keratoderma-xx-sex-reversal-predisposition-to-squamous-cell-carcinoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","Xref_IDs__c":"C3149931; C567165; MEDGEN:461281; MONDO:0012530; OMIM:610644; ORPHA:85112","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012530","Disease_Description__c":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.","GARD_Name__c":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","GARD_Synonym__c":"palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome","Curated_Disease_Description_Source__c":"ORPHA:85112","Curated_Disease_Description__c":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85112","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012530","ORPHANET_ID__c":"ORPHA:85112","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratodermia palmoplantar-reversión sexual xx-predisposición a carcinoma de células escamosas","Spanish_Description_Source__c":"ORPHA:85112","Spanish_Description__c":"Es un síndrome caracterizado por reversión del sexo en varones con un cariotipo 46, XX (SRY-negativo), hiperqueratosis palmoplantar y predisposición al carcinoma de células escamosas. Hasta la fecha se han descrito cinco casos (cuatro de los cuales eran hermanos). La etiología es desconocida.","Spanish_Disease_Name__c":"síndrome de queratodermia palmoplantar-reversión sexual xx-predisposición a carcinoma de células escamosas","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar-cambio de sexo xx-predisposición a carcinoma de células escamosas","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-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma.","Curated_Disease_Description_Source__c":"ORPHA:85112","GARD_Synonym__c":"palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal; palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome","Name":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcino","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","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:85112"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461281","Source__c":"C3149931","Xref__c":"MEDGEN:461281"},{"URL__c":"https://www.orpha.net/en/disease/detail/85112","Source__c":"C3149931; MONDO:0012530","Xref__c":"ORPHA:85112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567165","Source__c":"MONDO:0012530","Xref__c":"C567165"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3149931","Source__c":"C3149931","Xref__c":"C3149931"},{"URL__c":"https://www.omim.org/entry/610644","Source__c":"C3149931; MONDO:0012530; ORPHA:85112","Xref__c":"OMIM:610644"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012530","Source__c":"GARD:0016733","Xref__c":"MONDO:0012530"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RSPO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Development of the reproductive system is inconsistent with the chromosomal sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012245","HPO_Name__c":"Sex reversal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006739","HPO_Synonym__c":"Squamous skin carcinoma","HPO_Name__c":"Squamous cell carcinoma of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85112","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Dermatology","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Dermatology"]},"synonyms":["palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal"," palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome"]}