{"Name":"Pemphigus vulgaris","DiseaseID__c":"GARD:0007355","id":7355,"encodedName":"pemphigus-vulgaris","IsDeleted":false,"Disease_Name_Full__c":"Pemphigus vulgaris","Xref_IDs__c":"49420001; C0030809; C34910; C536645; DOID:0060851; L10.0; MEDGEN:10621; MONDO:0008219; OMIM:169610; ORPHA:704","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","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":3,"Description_Source__c":"MONDO:0008219","Disease_Description__c":"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.","GARD_Name__c":"Pemphigus vulgaris","GARD_Synonym__c":"familial pemphigus vulgaris; pv - pemphigus vulgaris","Curated_Disease_Description_Source__c":"GARD:0007355","Curated_Disease_Description__c":"Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. The primary lesion of Pemphigus vulgaris is a soft blister filled with clear fluid that appears on healthy or irritated skin. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. The blisters inside the mouth can make it hard for the person to eat. The rupture of blisters on the skin may be painful and limit the person's daily activities. Complications due to infections can be serious and the damaging nature of the blisters can cause loss of body fluids and protein. The exact cause of Pemphigus vulgaris is unknown, but the blisters in Pemphigus vulgaris are associated with the binding of antibodies to the skin cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:704","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008219","ORPHANET_ID__c":"ORPHA:704","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pénfigo vulgar","Spanish_Description_Source__c":"ORPHA:704","Spanish_Description__c":"Es una enfermedad cutánea ampollosa autoinmune poco frecuente caracterizada por ampollas flácidas dolorosas y erosiones de la mucosa oral, que afectan predominantemente a la zona bucal, y con o sin afectación de la epidermis. La mucosa de la laringe, el esófago, la conjuntiva, la nariz, los genitales y el ano se ven afectados con menor frecuencia.","Spanish_Disease_Name__c":"pénfigo vulgar","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":"Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. The primary lesion of Pemphigus vulgaris is a soft blister filled with clear fluid that appears on healthy or irritated skin. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. The blisters inside the mouth can make it hard for the person to eat. The rupture of blisters on the skin may be painful and limit the person's daily activities. Complications due to infections can be serious and the damaging nature of the blisters can cause loss of body fluids and protein. The exact cause of Pemphigus vulgaris is unknown, but the blisters in Pemphigus vulgaris are associated with the binding of antibodies to the skin cells.","Curated_Disease_Description_Source__c":"GARD:0007355","GARD_Synonym__c":"familial pemphigus vulgaris; pv - pemphigus vulgaris","Name":"Pemphigus vulgaris","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"International Pemphigus & Pemphigoid Foundation","Website__c":"https://www.pemphigus.org/"}],"GARD_Disease_Tag__c":[{"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":"Elderly","Provided_By__c":"ORPHA:704"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:704"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:704"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536645","Source__c":"MONDO:0008219","Xref__c":"C536645"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34910","Source__c":"C0030809; MONDO:0008219","Xref__c":"C34910"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10621","Source__c":"C0030809","Xref__c":"MEDGEN:10621"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L10.0","Source__c":"MONDO:0008219","Xref__c":"L10.0"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030809","Source__c":"C0030809","Xref__c":"C0030809"},{"URL__c":"https://www.orpha.net/en/disease/detail/704","Source__c":"C0030809; MONDO:0008219; ORPHA:704","Xref__c":"ORPHA:704"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060851","Source__c":"MONDO:0008219","Xref__c":"DOID:0060851"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49420001","Source__c":"C0030809; MONDO:0008219","Xref__c":"49420001"},{"URL__c":"https://www.omim.org/entry/169610","Source__c":"MONDO:0008219","Xref__c":"OMIM:169610"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008219","Source__c":"GARD:0007355","Xref__c":"MONDO:0008219"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000014","HPO_Name__c":"Anti-desmoglein-3 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:704","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:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034194","HPO_Synonym__c":"Blistering with suprabasal clefting","HPO_Name__c":"Suprabasal cleavage","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031446","HPO_Name__c":"Erosion of oral mucosa","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100838","HPO_Name__c":"Recurrent cutaneous abscess formation","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","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:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030351","HPO_Name__c":"Urticarial plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000013","HPO_Name__c":"Anti-desmoglein-1 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["familial pemphigus vulgaris"," pv - pemphigus vulgaris"],"spanishId":13138,"spanishName":"penfigo-vulgar"}