{"Name":"Epidermolysis bullosa simplex 7, with nephropathy and deafness","DiseaseID__c":"GARD:0017367","id":17367,"encodedName":"epidermolysis-bullosa-simplex-7-with-nephropathy-and-deafness","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 7, with nephropathy and deafness","Xref_IDs__c":"C1836823; C563798; MEDGEN:323004; MONDO:0012190; OMIM:609057; ORPHA:300333","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:300333","Disease_Description__c":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.","GARD_Name__c":"Epidermolysis bullosa simplex 7, with nephropathy and deafness","GARD_Synonym__c":"ebs with nephropathy; epidermolysis bullosa simplex with nephropathy; nephropathy with pretibial epidermolysis bullosa and deafness; nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome; nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome; nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome; nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome","Curated_Disease_Description_Source__c":"ORPHA:300333","Curated_Disease_Description__c":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:300333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012190","ORPHANET_ID__c":"ORPHA:300333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome nefrótico-sordera neurosensorial-epidermólisis ampollosa pretibial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome nefrótico-sordera neurosensorial-epidermólisis ampollosa pretibial","Spanish_GARD_Synonym__c":"ebs con nefropatía; epidermólisis ampollosa simple con nefropatía; síndrome de epidermólisis ampollosa-hipoacusia-síndrome nefrótico","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":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.","Curated_Disease_Description_Source__c":"ORPHA:300333","GARD_Synonym__c":"ebs with nephropathy; epidermolysis bullosa simplex with nephropathy; nephropathy with pretibial epidermolysis bullosa and deafness; nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome; nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome; nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome; nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome","Name":"Epidermolysis bullosa simplex 7, with nephropathy and deafness","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.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":"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":"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:300333"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1369","Source__c":"Gene Review","Xref__c":"NBK1369"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836823","Source__c":"C1836823","Xref__c":"C1836823"},{"URL__c":"https://www.omim.org/entry/609057","Source__c":"C1836823; MONDO:0012190; ORPHA:300333","Xref__c":"OMIM:609057"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=323004","Source__c":"C1836823","Xref__c":"MEDGEN:323004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563798","Source__c":"MONDO:0012190","Xref__c":"C563798"},{"URL__c":"https://www.orpha.net/en/disease/detail/300333","Source__c":"C1836823; MONDO:0012190","Xref__c":"ORPHA:300333"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012190","Source__c":"GARD:0017367","Xref__c":"MONDO:0012190"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD151","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609057","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:609057","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033485","HPO_Synonym__c":"Disruption of the glomerular basement membrane; Glomerular basement membrane rupture","HPO_Name__c":"Glomerular basement membrane disruption","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609057","HPO_Frequency__c":"Very frequent (80-99%)","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:609057","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:609057","Feature__r":{"HPO_Description__c":"Narrowing of a tear duct (lacrimal duct).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007678","HPO_Synonym__c":"Narrowing of the tear duct; Nasolacrimal duct stenosis","HPO_Name__c":"Lacrimal duct stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609057","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:609057","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609057","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects the skin of the tibial region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012221","HPO_Synonym__c":"Pretibial epidermolysis bullosa","HPO_Name__c":"Pretibial blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Dermatology","Otolaryngology","Pediatrics"],"Account":["Nephrology","Dermatology"]},"synonyms":["ebs with nephropathy"," epidermolysis bullosa simplex with nephropathy"," nephropathy with pretibial epidermolysis bullosa and deafness"," nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome"," nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"," nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome"," nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome"]}