{"Name":"Alport syndrome","DiseaseID__c":"GARD:0005785","id":5785,"encodedName":"alport-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Alport syndrome","Xref_IDs__c":"770414008; C1567741; C34842; DOID:10983; MEDGEN:339209; MONDO:0018965; NBK1207; OMIMPS:301050; ORPHA:63; Q87.81","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0018965","Disease_Description__c":"A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.","GARD_Name__c":"Alport syndrome","GARD_Synonym__c":"alport deafness-nephropathy; alport hearing loss-nephropathy; alport's syndrome; congenital hereditary hematuria; hemorrhagic familial nephritis; hemorrhagic hereditary nephritis","Curated_Disease_Description_Source__c":"GARD:0005785","Curated_Disease_Description__c":"Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD). In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:63","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018965","ORPHANET_ID__c":"ORPHA:63","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de alport","Spanish_Description_Source__c":"ORPHA:63","Spanish_Description__c":"Es una enfermedad renal poco frecuente caracterizada por nefropatía glomerular con hematuria que evoluciona a enfermedad renal terminal (ERT) y que asocia, por lo general, pérdida auditiva neurosensorial y, ocasionalmente, anomalías oculares.","Spanish_Disease_Name__c":"síndrome de alport","Spanish_GARD_Synonym__c":"hipoacusia-nefropatía de alport; sordera-nefropatía de alport","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":"Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD). In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.","Curated_Disease_Description_Source__c":"GARD:0005785","GARD_Synonym__c":"alport deafness-nephropathy; alport hearing loss-nephropathy; alport's syndrome; congenital hereditary hematuria; hemorrhagic familial nephritis; hemorrhagic hereditary nephritis","Name":"Alport syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"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:63"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:63"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:63"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:63"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1567742"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1207","Source__c":"Gene Review","Xref__c":"NBK1207"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34842","Source__c":"C1567741; MONDO:0018965","Xref__c":"C34842"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339209","Source__c":"C1567741","Xref__c":"MEDGEN:339209"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q87.81","Source__c":"MONDO:0018965","Xref__c":"Q87.81"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10983","Source__c":"MONDO:0018965","Xref__c":"DOID:10983"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS301050","Source__c":"MONDO:0018965","Xref__c":"OMIMPS:301050"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1567741","Source__c":"C1567741","Xref__c":"C1567741"},{"URL__c":"https://www.orpha.net/en/disease/detail/63","Source__c":"C1567741; MONDO:0018965; ORPHA:63","Xref__c":"ORPHA:63"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770414008","Source__c":"C1567741","Xref__c":"770414008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018965","Source__c":"GARD:0005785","Xref__c":"MONDO:0018965"},{"URL__c":"https://medlineplus.gov/genetics/condition/alport-syndrome","Source__c":"GARD:0005785","Xref__c":"https://medlineplus.gov/genetics/condition/alport-syndrome"}],"Inheritance__c":["X-linked dominant","Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of complement 3 deposits in the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012576","HPO_Synonym__c":"Renal C3 deposition","HPO_Name__c":"Glomerular C3 deposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032583","HPO_Name__c":"Renal glomerular foam cells","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012574","HPO_Synonym__c":"Mesangial proliferation","HPO_Name__c":"Mesangial hypercellularity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012577","HPO_Name__c":"Thin glomerular basement membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007787","HPO_Synonym__c":"Posterior subcapsular opacities of the lens","HPO_Name__c":"Posterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005576","HPO_Synonym__c":"Tubulointerstitial renal fibrosis","HPO_Name__c":"Tubulointerstitial fibrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001679","HPO_Synonym__c":"Abnormal aorta morphology; Abnormality of the aorta","HPO_Name__c":"Abnormal aortic morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Frequent (30-79%)","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:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011488","HPO_Synonym__c":"Abnormality of corneal endothelium","HPO_Name__c":"Abnormal corneal endothelium morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","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:63","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:63","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025005","HPO_Name__c":"Thickening of glomerular capillary wall","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002837","HPO_Synonym__c":"Bronchitis, recurrent","HPO_Name__c":"Recurrent bronchitis","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011501","HPO_Name__c":"Anterior lenticonus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of immunoglobulin A deposits in the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000794","HPO_Name__c":"IgA deposition in the glomerulus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006756","HPO_Name__c":"Diffuse leiomyomatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004942","HPO_Synonym__c":"Aortic dilatation; Bulge in wall of large artery that carries blood away from heart; Enlarged aorta","HPO_Name__c":"Aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000092","HPO_Synonym__c":"Renal tubular cell atrophy; Tubular atrophy","HPO_Name__c":"Renal tubular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012045","HPO_Name__c":"Retinal flecks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pain that is localized to the region of the upper abdomen immediately below the ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410019","HPO_Synonym__c":"Epigastrium pain","HPO_Name__c":"Epigastric pain","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 deafness-nephropathy"," alport hearing loss-nephropathy"," alport's syndrome"," congenital hereditary hematuria"," hemorrhagic familial nephritis"," hemorrhagic hereditary nephritis"]}