{"Name":"Porokeratosis of Mibelli","DiseaseID__c":"GARD:0004438","id":4438,"encodedName":"porokeratosis-of-mibelli","IsDeleted":false,"Disease_Name_Full__c":"Porokeratosis of Mibelli","Xref_IDs__c":"80432009; C0949506; MEDGEN:181842; MONDO:0019141; ORPHA:735","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019141","Disease_Description__c":"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.","GARD_Name__c":"Porokeratosis of Mibelli","GARD_Synonym__c":"mibelli's disease; porokeratosis, mibelli","Curated_Disease_Description_Source__c":"GARD:0004438","Curated_Disease_Description__c":"Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:735","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019141","ORPHANET_ID__c":"ORPHA:735","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poroqueratosis de mibelli","Spanish_Description_Source__c":"ORPHA:735","Spanish_Description__c":"Es una enfermedad poco frecuente de la piel caracterizada por la presencia de placas anulares, únicas o múltiples, de un color pardo y de un tamaño variable ocasionalmente confluentes, con un borde queratósico característico bien definido.","Spanish_Disease_Name__c":"poroqueratosis de mibelli","Spanish_GARD_Synonym__c":null,"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":"Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer.","Curated_Disease_Description_Source__c":"GARD:0004438","GARD_Synonym__c":"mibelli's disease; porokeratosis, mibelli","Name":"Porokeratosis of Mibelli","estimateUsa":""}],"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":"Adolescent","Provided_By__c":"ORPHA:735"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:735"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:735"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0949506"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004438","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/735","Source__c":"C0949506; MONDO:0019141; ORPHA:735","Xref__c":"ORPHA:735"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=181842","Source__c":"C0949506","Xref__c":"MEDGEN:181842"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80432009","Source__c":"C0949506; MONDO:0019141","Xref__c":"80432009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0949506","Source__c":"C0949506","Xref__c":"C0949506"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019141","Source__c":"GARD:0004438","Xref__c":"MONDO:0019141"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PMVK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MVK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mvk","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:735","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:735","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:735","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:735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200044","HPO_Name__c":"Porokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["mibelli's disease"," porokeratosis, mibelli"]}