{"Name":"Polyarteritis nodosa","DiseaseID__c":"GARD:0007360","id":7360,"encodedName":"polyarteritis-nodosa","IsDeleted":false,"Disease_Name_Full__c":"Polyarteritis nodosa","Xref_IDs__c":"155441006; C0031036; C26847; D010488; DOID:9810; M30.0; MEDGEN:14681; MONDO:0019170; ORPHA:767","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019170","Disease_Description__c":"A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.","GARD_Name__c":"Polyarteritis nodosa","GARD_Synonym__c":"classic polyarteritis nodosa; classical polyarteritis nodosa; küssmaul-maier disease; pan; pan - polyarteritis nodosa; panarteritis nodosa; periarteritis nodosa","Curated_Disease_Description_Source__c":"GARD:0007360","Curated_Disease_Description__c":"Polyarteritis nodosa (PAN) is a blood vessel disease characterized by inflammation of small and medium-sized arteries (vasculitis), preventing them from bringing oxygen and food to organs. Most cases occur in the 4th or 5th decade of life, although it can occur at any age. PAN most commonly affects vessels related to the skin, joints, peripheral nerves, gastrointestinal tract, heart, eyes, and kidneys. Symptoms are caused by damage to affected organs and may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, rashes, numbness, and abdominal pain. The underlying cause of PAN is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:767","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019170","ORPHANET_ID__c":"ORPHA:767","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliarteritis nodosa","Spanish_Description_Source__c":"ORPHA:767","Spanish_Description__c":"Es una enfermedad sistémica poco frecuente, clínicamente heterogénea, caracterizada por lesiones inflamatorias necrotizantes que afectan a vasos sanguíneos medianos, principalmente de la piel, las articulaciones, los nervios periféricos y el tracto gastrointestinal.","Spanish_Disease_Name__c":"poliarteritis nodosa","Spanish_GARD_Synonym__c":"enfermedad de küssmaul-maier; pan; periarteritis nodosa","Category_Linearization__c":"ORPHA:98023","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":"Polyarteritis nodosa (PAN) is a blood vessel disease characterized by inflammation of small and medium-sized arteries (vasculitis), preventing them from bringing oxygen and food to organs. Most cases occur in the 4th or 5th decade of life, although it can occur at any age. PAN most commonly affects vessels related to the skin, joints, peripheral nerves, gastrointestinal tract, heart, eyes, and kidneys. Symptoms are caused by damage to affected organs and may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, rashes, numbness, and abdominal pain. The underlying cause of PAN is unknown.","Curated_Disease_Description_Source__c":"GARD:0007360","GARD_Synonym__c":"classic polyarteritis nodosa; classical polyarteritis nodosa; küssmaul-maier disease; pan; pan - polyarteritis nodosa; panarteritis nodosa; periarteritis nodosa","Name":"Polyarteritis nodosa","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":"The Lauren Currie Twilight Foundation","Website__c":"https://thelaurencurrietwilightfoundation.org/"},{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Vasculitis Foundation Canada","Website__c":"https://vasculitis.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"All ages","Provided_By__c":"ORPHA:767"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0031036"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010488","Source__c":"C0031036; MONDO:0019170","Xref__c":"D010488"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M30.0","Source__c":"MONDO:0019170","Xref__c":"M30.0"},{"URL__c":"https://www.orpha.net/en/disease/detail/767","Source__c":"C0031036; MONDO:0019170; ORPHA:767","Xref__c":"ORPHA:767"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26847","Source__c":"C0031036; MONDO:0019170","Xref__c":"C26847"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=14681","Source__c":"C0031036","Xref__c":"MEDGEN:14681"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9810","Source__c":"MONDO:0019170","Xref__c":"DOID:9810"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0031036","Source__c":"C0031036","Xref__c":"C0031036"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=155441006","Source__c":"C0031036; MONDO:0019170","Xref__c":"155441006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019170","Source__c":"GARD:0007360","Xref__c":"MONDO:0019170"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002011","HPO_Synonym__c":"Abnormality of the central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS","HPO_Name__c":"Morphological central nervous system abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An axonal neuropathy of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003390","HPO_Synonym__c":"Axonal sensory neuropathy","HPO_Name__c":"Sensory axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","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:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","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:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the sac-like covering around the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001701","HPO_Synonym__c":"Swelling or irritation of membrane around heart","HPO_Name__c":"Pericarditis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous inflammation of multiple nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031003","HPO_Synonym__c":"Multiple neuritis","HPO_Name__c":"Polyneuritis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033260","HPO_Name__c":"Livedo racemosa","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011121","HPO_Synonym__c":"Abnormal skin morphology; Abnormal skin structure; Abnormality of skin morphology","HPO_Name__c":"Abnormal skin morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005764","HPO_Name__c":"Polyarticular arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Frequent (30-79%)","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:767","HPO_Frequency__c":"Occasional (5-29%)","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:767","HPO_Frequency__c":"Occasional (5-29%)","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:767","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; Abnormality of the GI tract","HPO_Name__c":"Abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:767","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the pleura.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002102","HPO_Synonym__c":"Inflammation of tissues lining lungs and chest; Pleurisy","HPO_Name__c":"Pleuritis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology","Nephrology"],"Specialist":["Neurology","Rheumatology","Nephrology","Vascular Medicine","Pediatrics"],"Account":["Nephrology","Peripheral Neuropathy"]},"synonyms":["classic polyarteritis nodosa"," classical polyarteritis nodosa"," küssmaul-maier disease"," pan"," pan - polyarteritis nodosa"," panarteritis nodosa"," periarteritis nodosa"]}