{"Name":"Chilblain lupus","DiseaseID__c":"GARD:0019130","id":19130,"encodedName":"chilblain-lupus","IsDeleted":false,"Disease_Name_Full__c":"Chilblain lupus","Xref_IDs__c":"C4551515; DOID:0060386; MEDGEN:1632142; MONDO:0019557; ORPHA:90280","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0019557","Disease_Description__c":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.","GARD_Name__c":"Chilblain lupus","GARD_Synonym__c":"chilblain lupus erythematosus; chle; hutchinson lupus; lupus pernio; sarcoidosis, lupus pernio type","Curated_Disease_Description_Source__c":"MONDO:0019557","Curated_Disease_Description__c":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:90280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019557","ORPHANET_ID__c":"ORPHA:90280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lupus perniótico","Spanish_Description_Source__c":"ORPHA:90280","Spanish_Description__c":"Es un tipo de lupus eritematoso cutáneo crónico y poco frecuente, caracterizado por pápulas y placas rojizas o violáceas, inicialmente pruriginosas (que evolucionan a dolorosas), localizadas en zonas acras (especialmente en el dorso de los dedos de manos y pies, mientras que la afectación nasal y ótica es infrecuente), exacerbadas por el frío y las condiciones húmedas y que, ocasionalmente, muestran fisuras y úlceras. La enfermedad puede estar asociada a la coexistencia de lesiones de lupus eritematoso discoide en otras partes del cuerpo y a la progresión ocasional a lupus eritematoso sistémico. El estudio histológico y los estudios de inmunofluorescencia directa muestran los cambios inflamatorios inespecíficos del lupus eritematoso, mientras que los resultados de los estudios de crioglobulinas y aglutininas frías son negativos.","Spanish_Disease_Name__c":"lupus perniótico","Spanish_GARD_Synonym__c":"lupus sabañón","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":"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.","Curated_Disease_Description_Source__c":"MONDO:0019557","GARD_Synonym__c":"chilblain lupus erythematosus; chle; hutchinson lupus; lupus pernio; sarcoidosis, lupus pernio type","Name":"Chilblain lupus","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lupus Foundation of America","Website__c":"https://www.lupus.org/"},{"Account_Name__c":"Lupus Research Alliance","Website__c":"https://lupusresearch.org/"},{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:90280"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90280"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90280"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90280"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:90280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1632142","Source__c":"C4551515","Xref__c":"MEDGEN:1632142"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551515","Source__c":"C4551515","Xref__c":"C4551515"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060386","Source__c":"MONDO:0019557","Xref__c":"DOID:0060386"},{"URL__c":"https://www.orpha.net/en/disease/detail/90280","Source__c":"C4551515; MONDO:0019557; ORPHA:90280","Xref__c":"ORPHA:90280"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72470008","Source__c":"C4551515","Xref__c":"72470008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019557","Source__c":"GARD:0019130","Xref__c":"MONDO:0019557"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238928005","Source__c":"C4551515","Xref__c":"238928005"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007417","HPO_Synonym__c":"Discoid lupus erythematosus","HPO_Name__c":"Discoid lupus rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025300","HPO_Synonym__c":"Butterfly rash; Cheekbone rash","HPO_Name__c":"Malar rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","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:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003493","HPO_Synonym__c":"Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody","HPO_Name__c":"Antinuclear antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90280","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:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030880","HPO_Synonym__c":"Raynaud's phenomenon","HPO_Name__c":"Raynaud phenomenon","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of circulating autoantibodies to phospholipids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003613","HPO_Synonym__c":"Antiphospholipid antibodies; Antiphospholipid antibody; Phospholipid antibody positivity","HPO_Name__c":"Antiphospholipid antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence in the serum of an autoantibody directed against the Fc portion of IgG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002923","HPO_Name__c":"Rheumatoid factor positive","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012325","HPO_Name__c":"Chronic myelomonocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","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 sensation of itching over the skin of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030899","HPO_Name__c":"Pruritis on hand","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the soft tissues of one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025131","HPO_Synonym__c":"Swelling of fingers; Swollen finger; Swollen fingers","HPO_Name__c":"Finger swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["chilblain lupus erythematosus"," chle"," hutchinson lupus"," lupus pernio"," sarcoidosis, lupus pernio type"]}