{"Name":"Hyperzincemia and hypercalprotectinemia","DiseaseID__c":"GARD:0027262","id":27262,"encodedName":"hyperzincemia-and-hypercalprotectinemia","IsDeleted":false,"Disease_Name_Full__c":"Hyperzincemia and hypercalprotectinemia","Xref_IDs__c":"771339005; C4760957; C566595; DOID:0061185; MEDGEN:1813911; MONDO:0011174; OMIM:601979; ORPHA:251523","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Hyperzincemia and hypercalprotectinemia","GARD_Synonym__c":"aiczc; hyperzincemia with functional zinc depletion; hzhc syndrome; recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome; recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"A rare genetic condition that affects how the body handles zinc. People with this condition often have repeated infections, an enlarged liver and spleen, and a type of anemia that doesn’t improve with iron supplements. They usually experience long-lasting inflammation throughout the body and have unusually high levels of zinc and a protein called calprotectin in their blood. Common symptoms include skin problems such as painful sores or inflamed patches, joint pain, frequent nosebleeds, and unexplained bruising.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011174","ORPHANET_ID__c":"ORPHA:251523","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperzincemia e hipercalprotectinemia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperzincemia e hipercalprotectinemia","Spanish_GARD_Synonym__c":"hz/hc; síndrome inflamatorio asociado a pstpip1 con proteinemia mieloide; síndrome pami","Category_Linearization__c":"ORPHA:68367","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 genetic condition that affects how the body handles zinc. People with this condition often have repeated infections, an enlarged liver and spleen, and a type of anemia that doesn’t improve with iron supplements. They usually experience long-lasting inflammation throughout the body and have unusually high levels of zinc and a protein called calprotectin in their blood. Common symptoms include skin problems such as painful sores or inflamed patches, joint pain, frequent nosebleeds, and unexplained bruising.","GARD_Synonym__c":"aiczc; hyperzincemia with functional zinc depletion; hzhc syndrome; recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome; recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome","Name":"Hyperzincemia and hypercalprotectinemia","estimateUsa":""}],"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"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251523"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771339005","Source__c":"C4760957","Xref__c":"771339005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1813911","Source__c":"C4760957","Xref__c":"MEDGEN:1813911"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4760957","Source__c":"C4760957","Xref__c":"C4760957"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566595","Source__c":"MONDO:0011174","Xref__c":"C566595"},{"URL__c":"https://www.orpha.net/en/disease/detail/251523","Source__c":"MONDO:0011174","Xref__c":"ORPHA:251523"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011174","Source__c":"GARD:0027262","Xref__c":"MONDO:0011174"},{"URL__c":"https://www.omim.org/entry/601979","Source__c":"C4760957; MONDO:0011174; ORPHA:251523","Xref__c":"OMIM:601979"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061185","Source__c":"MONDO:0011174","Xref__c":"DOID:0061185"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSTPIP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601979","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601979","Feature__r":{"HPO_Description__c":"An increased concentration of zinc in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011424","HPO_Synonym__c":"Hyperzincemia","HPO_Name__c":"Increased serum zinc","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:601979","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601979","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":"OMIM:601979","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601979","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601979","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Rheumatology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["aiczc"," hyperzincemia with functional zinc depletion"," hzhc syndrome"," recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome"," recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome"]}