{"Name":"Autosomal dominant Alport syndrome","DiseaseID__c":"GARD:0000624","id":624,"encodedName":"autosomal-dominant-alport-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant Alport syndrome","Xref_IDs__c":"717766000; C5882663; DOID:0110032; MEDGEN:1848787; MONDO:0007086; OMIM:104200; ORPHA:88918","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":7,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007086","Disease_Description__c":"Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.","GARD_Name__c":"Autosomal dominant Alport syndrome","GARD_Synonym__c":"alport syndrome 3, autosomal dominant; alport syndrome 3a, autosomal dominant; alport syndrome dominant type; alport syndrome, autosomal dominant; ats3a; col4a3 alport syndrome and thin basement membrane nephropathy; renal failure and sensorineural hearing loss","Curated_Disease_Description_Source__c":"GARD:0000624","Curated_Disease_Description__c":"Autosomal dominant Alport syndrome is a genetic condition in which the body’s production of type IV collagen is impaired. This collagen is used in the kidney, inner ear, and eye. Symptoms of this disease vary greatly and tend to present in early to late adulthood. Symptoms include blood in the urine, protein in the urine, and gradual loss of kidney function. Less common features include hearing loss, eye lesions, and end stage renal disease. It is caused by changes in either the COL4A3 or COL4A4 gene. Some people with changes in these genes have no symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:88918","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007086","ORPHANET_ID__c":"ORPHA:88918","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de alport tipo dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de alport tipo dominante","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93626","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":"Autosomal dominant Alport syndrome is a genetic condition in which the body’s production of type IV collagen is impaired. This collagen is used in the kidney, inner ear, and eye. Symptoms of this disease vary greatly and tend to present in early to late adulthood. Symptoms include blood in the urine, protein in the urine, and gradual loss of kidney function. Less common features include hearing loss, eye lesions, and end stage renal disease. It is caused by changes in either the COL4A3 or COL4A4 gene. Some people with changes in these genes have no symptoms.","Curated_Disease_Description_Source__c":"GARD:0000624","GARD_Synonym__c":"alport syndrome 3, autosomal dominant; alport syndrome 3a, autosomal dominant; alport syndrome dominant type; alport syndrome, autosomal dominant; ats3a; col4a3 alport syndrome and thin basement membrane nephropathy; renal failure and sensorineural hearing loss","Name":"Autosomal dominant Alport syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"Alport Syndrome Foundation","Website__c":"https://www.alportsyndrome.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":"Ophthalmology","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:88918"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000624","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1207","Source__c":"Gene Review","Xref__c":"NBK1207"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110032","Source__c":"MONDO:0007086","Xref__c":"DOID:0110032"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5882663","Source__c":"C5882663","Xref__c":"C5882663"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1848787","Source__c":"C5882663","Xref__c":"MEDGEN:1848787"},{"URL__c":"https://www.orpha.net/en/disease/detail/88918","Source__c":"C5882663; MONDO:0007086","Xref__c":"ORPHA:88918"},{"URL__c":"https://www.omim.org/entry/104200","Source__c":"C5882663; MONDO:0007086; ORPHA:88918","Xref__c":"OMIM:104200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717766000","Source__c":"MONDO:0007086","Xref__c":"717766000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007086","Source__c":"GARD:0000624","Xref__c":"MONDO:0007086"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL4A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col4a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004722","HPO_Synonym__c":"Thickening of the glomerular basement membrane","HPO_Name__c":"Thickened glomerular basement membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"Presence of abnormal additional layers of the basement membrane of the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030034","HPO_Synonym__c":"Lamellated/basket-woven thickened glomerular basement membranes; Lamellation of the glomerular basement membrane","HPO_Name__c":"Glomerular basement membrane lamellation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"An increased concentration of nitrogen compounds in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002157","HPO_Synonym__c":"Azotaemia","HPO_Name__c":"Azotemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:104200","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"A polar cataract that affects the anterior pole of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001134","HPO_Synonym__c":"Polar cataract, anterior","HPO_Name__c":"Anterior polar cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","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":"OMIM:104200","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001142","HPO_Name__c":"Lenticonus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:104200","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Otolaryngology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology","Retinal"]},"synonyms":["alport syndrome 3, autosomal dominant"," alport syndrome 3a, autosomal dominant"," alport syndrome dominant type"," alport syndrome, autosomal dominant"," ats3a"," col4a3 alport syndrome and thin basement membrane nephropathy"," renal failure and sensorineural hearing loss"]}