{"Name":"Variant ABeta2M amyloidosis","DiseaseID__c":"GARD:0021382","id":21382,"encodedName":"variant-abeta2m-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"Variant ABeta2M amyloidosis","Xref_IDs__c":"722292000; C4302669; DOID:0080929; MEDGEN:928338; MONDO:0017810; ORPHA:314652","USA_Estimate__c":"1,000","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":"1 to 8,000","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":1,"Description_Source__c":"MONDO:0017810","Disease_Description__c":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.","GARD_Name__c":"Variant ABeta2M amyloidosis","GARD_Synonym__c":"autosomal dominant beta2-microglobulinic amyloidosis","Curated_Disease_Description_Source__c":"MONDO:0017810","Curated_Disease_Description__c":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:314652","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017810","ORPHANET_ID__c":"ORPHA:314652","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis variante abeta2m","Spanish_Description_Source__c":"ORPHA:314652","Spanish_Description__c":"Es una forma poco frecuente de amiloidosis caracterizada por el acúmulo y el depósito visceral extenso de la variante no-amiloidogénica de la beta2-microglobulina que conduce a disfunción gastrointestinal progresiva, síndrome de Sjögren y neuropatía autónoma.","Spanish_Disease_Name__c":"amiloidosis variante abeta2m","Spanish_GARD_Synonym__c":"amiloidosis beta2-microglobulínica autosómica dominante","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":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0017810","GARD_Synonym__c":"autosomal dominant beta2-microglobulinic amyloidosis","Name":"Variant ABeta2M amyloidosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Foundation","Website__c":"https://www.amyloidosis.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":"Rheumatology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:314652"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928338","Source__c":"C4302669","Xref__c":"MEDGEN:928338"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302669","Source__c":"C4302669","Xref__c":"C4302669"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080929","Source__c":"MONDO:0017810","Xref__c":"DOID:0080929"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722292000","Source__c":"C4302669; MONDO:0017810","Xref__c":"722292000"},{"URL__c":"https://www.orpha.net/en/disease/detail/314652","Source__c":"C4302669; MONDO:0017810; ORPHA:314652","Xref__c":"ORPHA:314652"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017810","Source__c":"GARD:0021382","Xref__c":"MONDO:0017810"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"B2M","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025015","HPO_Name__c":"Abnormal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012664","HPO_Synonym__c":"Reduced ejection fraction","HPO_Name__c":"Reduced left ventricular ejection fraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of amyloid deposition in the superficial dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012309","HPO_Name__c":"Cutaneous amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012185","HPO_Name__c":"Constrictive median neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole (perforation) in the wall of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031368","HPO_Name__c":"Intestinal perforation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030834","HPO_Synonym__c":"Shoulder pain","HPO_Name__c":"Shoulder pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001917","HPO_Name__c":"Renal amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of amyloid deposition in the nerves of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100292","HPO_Name__c":"Amyloidosis of peripheral nerves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000157","HPO_Synonym__c":"Abnormal tongue; Abnormality of the tongue; Glossal abnormality; Lingual abnormality; Tongue abnormality","HPO_Name__c":"Abnormality of the tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain affecting the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003365","HPO_Synonym__c":"Coxalgia; Hip arthralgia; Hip joint pain","HPO_Name__c":"Arthralgia of the hip","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030836","HPO_Synonym__c":"Wrist pain","HPO_Name__c":"Wrist pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of a skeletal muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011805","HPO_Synonym__c":"Abnormal muscle morphology; Abnormality of muscle morphology; Abnormally shaped muscle; Issue with muscle structure","HPO_Name__c":"Abnormal skeletal muscle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple cystic changes in multiple areas or multiple bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012065","HPO_Synonym__c":"Multiple bony cystic lesions","HPO_Name__c":"Multiple bony cystic lesions","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030843","HPO_Synonym__c":"Amyloid cardiomyopathy","HPO_Name__c":"Cardiac amyloidosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal calcification in the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011915","HPO_Name__c":"Cardiovascular calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005244","HPO_Synonym__c":"Death of digestive organ tissue due to poor blood supply; GI infarctions","HPO_Name__c":"Gastrointestinal infarctions","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of amyloidosis that affects the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012280","HPO_Name__c":"Hepatic amyloidosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology"]},"synonyms":["autosomal dominant beta2-microglobulinic amyloidosis"]}