{"Name":"Olmsted syndrome","DiseaseID__c":"GARD:0004075","id":4075,"encodedName":"olmsted-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Olmsted syndrome","Xref_IDs__c":"C0406761; DOID:0112011; MEDGEN:590661; MONDO:0031421; OMIMPS:614594; ORPHA:659","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:0031421","Disease_Description__c":"A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.","GARD_Name__c":"Olmsted syndrome","GARD_Synonym__c":"congenital palmoplantar and perioral keratoderma of olmsted; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; mutilating palmoplantar keratoderma with periorificial keratotic plaques; olms; palmoplantar and periorificial keratoderma; palmoplantar keratoderma, mutilating, with periorificial keratotic plaques","Curated_Disease_Description_Source__c":"GARD:0004075","Curated_Disease_Description__c":"Mutilating palmoplantar keratoderma with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer. Mutilating palmoplantar keratoderma with periorificial keratotic plaques is caused by genetic changes (DNA variants) in the TRPV3 and the MBTPS2 gene. Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family). Diagnosis is based on the symptoms, and genetic testing can be helpful.","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:659","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0031421","ORPHANET_ID__c":"ORPHA:659","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar mutilante con placas queratósicas periorificiales","Spanish_Description_Source__c":"ORPHA:659","Spanish_Description__c":"Es una queratodermia palmoplantar hereditaria caracterizada por la combinación de queratodermia palmoplantar transgrediens bilateral mutilante y placas queratósicas periorificiales.","Spanish_Disease_Name__c":"queratodermia palmoplantar mutilante con placas queratósicas periorificiales","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar mutilante con placas queratósicas periorificiales; queratodermia palmoplantar y periorificial; síndrome de olmsted","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":"Mutilating palmoplantar keratoderma with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer. Mutilating palmoplantar keratoderma with periorificial keratotic plaques is caused by genetic changes (DNA variants) in the TRPV3 and the MBTPS2 gene. Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family). Diagnosis is based on the symptoms, and genetic testing can be helpful.","Curated_Disease_Description_Source__c":"GARD:0004075","GARD_Synonym__c":"congenital palmoplantar and perioral keratoderma of olmsted; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; mutilating palmoplantar keratoderma with periorificial keratotic plaques; olms; palmoplantar and periorificial keratoderma; palmoplantar keratoderma, mutilating, with periorificial keratotic plaques","Name":"Olmsted 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":"Infancy","Provided_By__c":"ORPHA:659"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:659"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:659"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2609071"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004075","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/659","Source__c":"C0406761; MONDO:0031421; ORPHA:659","Xref__c":"ORPHA:659"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=590661","Source__c":"C0406761","Xref__c":"MEDGEN:590661"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS614594","Source__c":"MONDO:0031421","Xref__c":"OMIMPS:614594"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406761","Source__c":"C0406761","Xref__c":"C0406761"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112011","Source__c":"MONDO:0031421","Xref__c":"DOID:0112011"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0031421","Source__c":"GARD:0004075","Xref__c":"MONDO:0031421"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239072003","Source__c":"C0406761","Xref__c":"239072003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PERP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MBTPS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000157","HPO_Synonym__c":"Abnormal tongue; Abnormality of the tongue; Glossal abnormality; Lingual abnormality; Tongue abnormality","HPO_Name__c":"Abnormality of the tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031057","HPO_Synonym__c":"Cracked skin; Skin fissuring","HPO_Name__c":"Skin fissure","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","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:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the gingiva (also known as gums).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000168","HPO_Synonym__c":"Abnormality of the gums; Gingival abnormality","HPO_Name__c":"Abnormality of the gingiva","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased perspiration on palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007410","HPO_Synonym__c":"Excessive sweating of palms and soles; Hyperhidrosis of palms and soles","HPO_Name__c":"Palmoplantar hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Very frequent (80-99%)","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:659","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:659","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of joint mobility resulting from changes involving the articular surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031013","HPO_Name__c":"Ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:659","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011830","HPO_Synonym__c":"Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane","HPO_Name__c":"Abnormal oral mucosa morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital palmoplantar and perioral keratoderma of olmsted"," mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques"," mutilating palmoplantar keratoderma with periorificial keratotic plaques"," olms"," palmoplantar and periorificial keratoderma"," palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"]}