{"Name":"Familial benign pemphigus","DiseaseID__c":"GARD:0006559","id":6559,"encodedName":"familial-benign-pemphigus","IsDeleted":false,"Disease_Name_Full__c":"Familial benign pemphigus","Xref_IDs__c":"79468000; C0085106; C82865; D016506; DOID:0050429; MEDGEN:43100; MONDO:0008218; OMIM:169600; ORPHA:2841","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008218","Disease_Description__c":"Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).","GARD_Name__c":"Familial benign pemphigus","GARD_Synonym__c":"benign chronic familial pemphigus of hailey-hailey; benign chronic pemphigus; benign familial chronic pemphigus; familial benign chronic pemphigus; hailey hailey disease; hailey-hailey disease; hhd; pemphigus, benign familial","Curated_Disease_Description_Source__c":"GARD:0006559","Curated_Disease_Description__c":"Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. The severity of Hailey-Hailey disease varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as 'benign' (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing Hailey-Hailey disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2841","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008218","ORPHANET_ID__c":"ORPHA:2841","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de hailey-hailey","Spanish_Description_Source__c":"ORPHA:2841","Spanish_Description__c":"El pénfigo benigno crónico familiar de Hailey-Hailey se caracteriza por la presencia de fisuras en la piel, localizadas principalmente en las axilas y en los pliegues inguinales y perineales (escroto y vulva).","Spanish_Disease_Name__c":"enfermedad de hailey-hailey","Spanish_GARD_Synonym__c":"pénfigo benigno crónico familiar","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":"Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. The severity of Hailey-Hailey disease varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as 'benign' (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing Hailey-Hailey disease.","Curated_Disease_Description_Source__c":"GARD:0006559","GARD_Synonym__c":"benign chronic familial pemphigus of hailey-hailey; benign chronic pemphigus; benign familial chronic pemphigus; familial benign chronic pemphigus; hailey hailey disease; hailey-hailey disease; hhd; pemphigus, benign familial","Name":"Familial benign pemphigus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2841"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0085106"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006559","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085106","Source__c":"C0085106","Xref__c":"C0085106"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=43100","Source__c":"C0085106","Xref__c":"MEDGEN:43100"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050429","Source__c":"MONDO:0008218","Xref__c":"DOID:0050429"},{"URL__c":"https://www.omim.org/entry/169600","Source__c":"C0085106; MONDO:0008218; ORPHA:2841","Xref__c":"OMIM:169600"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C82865","Source__c":"C0085106; MONDO:0008218","Xref__c":"C82865"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79468000","Source__c":"C0085106; MONDO:0008218","Xref__c":"79468000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016506","Source__c":"C0085106; MONDO:0008218","Xref__c":"D016506"},{"URL__c":"https://www.orpha.net/en/disease/detail/2841","Source__c":"C0085106; MONDO:0008218; ORPHA:2841","Xref__c":"ORPHA:2841"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008218","Source__c":"GARD:0006559","Xref__c":"MONDO:0008218"},{"URL__c":"https://medlineplus.gov/genetics/condition/hailey-hailey-disease","Source__c":"GARD:0006559","Xref__c":"https://medlineplus.gov/genetics/condition/hailey-hailey-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP2C1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp2c1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2841","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:2841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2841","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["benign chronic familial pemphigus of hailey-hailey"," benign chronic pemphigus"," benign familial chronic pemphigus"," familial benign chronic pemphigus"," hailey hailey disease"," hailey-hailey disease"," hhd"," pemphigus, benign familial"],"spanishId":13287,"spanishName":"enfermedad-de-hailey-hailey"}