{"Name":"Drash syndrome","DiseaseID__c":"GARD:0005576","id":5576,"encodedName":"drash-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Drash syndrome","Xref_IDs__c":"236385009; C0950121; C84668; D030321; DOID:3764; MEDGEN:181980; MONDO:0008682; OMIM:194080; ORPHA:220","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008682","Disease_Description__c":"A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.","GARD_Name__c":"Drash syndrome","GARD_Synonym__c":"dds; denys drash syndrome; denys-drash syndrome; denys-drash syndrome, autosomal dominant, somatic mutation; nephropathy, wilms tumor, and genital anomalies; nephrotic syndrome type 4; nephrotic syndrome with pseudohermaphroditism; wilms tumor and pseudo- or true hermaphroditism; wilms tumor and pseudohermaphroditism; wilms tumor-disorder of sex development syndrome; wilms tumor-dsd syndrome; wilms tumour and pseudohermaphroditism; wilms' tumor and nephrotic syndrome with pseudohermaphroditism","Curated_Disease_Description_Source__c":"GARD:0005576","Curated_Disease_Description__c":"Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys. Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female or the genitalia appear  female-typical. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile). Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:220","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008682","ORPHANET_ID__c":"ORPHA:220","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de denys-drash","Spanish_Description_Source__c":"ORPHA:220","Spanish_Description__c":"Es un trastorno glomerular sindrómico poco frecuente de origen genético caracterizado por la asociación de nefropatía que se presenta como proteinuria persistente o síndrome nefrótico manifiesto, tumor de Wilms y defectos genitourinarios estructurales. Además, los trastornos del desarrollo testicular son comunes en individuos con cariotipo 46,XY.","Spanish_Disease_Name__c":"síndrome de denys-drash","Spanish_GARD_Synonym__c":"síndrome de tumor de wilms-ads; síndrome de tumor de wilms-anomalia del desarrollo sexual","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":"Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys. Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female or the genitalia appear  female-typical. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile). Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.","Curated_Disease_Description_Source__c":"GARD:0005576","GARD_Synonym__c":"dds; denys drash syndrome; denys-drash syndrome; denys-drash syndrome, autosomal dominant, somatic mutation; nephropathy, wilms tumor, and genital anomalies; nephrotic syndrome type 4; nephrotic syndrome with pseudohermaphroditism; wilms tumor and pseudo- or true hermaphroditism; wilms tumor and pseudohermaphroditism; wilms tumor-disorder of sex development syndrome; wilms tumor-dsd syndrome; wilms tumour and pseudohermaphroditism; wilms' tumor and nephrotic syndrome with pseudohermaphroditism","Name":"Drash syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:220"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:220"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:220"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:220"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0950121"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3151568"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005576","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK556455","Source__c":"Gene Review","Xref__c":"NBK556455"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0950121","Source__c":"C0950121","Xref__c":"C0950121"},{"URL__c":"https://www.omim.org/entry/194080","Source__c":"C0950121; MONDO:0008682; ORPHA:220","Xref__c":"OMIM:194080"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=181980","Source__c":"C0950121","Xref__c":"MEDGEN:181980"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236385009","Source__c":"C0950121; MONDO:0008682","Xref__c":"236385009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3764","Source__c":"MONDO:0008682","Xref__c":"DOID:3764"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C030321","Source__c":"C0950121; MONDO:0008682","Xref__c":"D030321"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84668","Source__c":"C0950121; MONDO:0008682","Xref__c":"C84668"},{"URL__c":"https://www.orpha.net/en/disease/detail/220","Source__c":"C0950121; MONDO:0008682; ORPHA:220","Xref__c":"ORPHA:220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008682","Source__c":"GARD:0005576","Xref__c":"MONDO:0008682"},{"URL__c":"https://medlineplus.gov/genetics/condition/denys-drash-syndrome","Source__c":"GARD:0005576","Xref__c":"https://medlineplus.gov/genetics/condition/denys-drash-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000037","HPO_Name__c":"Male pseudohermaphroditism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220","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:220","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":"ORPHA:220","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000133","HPO_Synonym__c":"Mixed gonadal dysgenesis; Pure gonadal dysgenesis","HPO_Name__c":"Gonadal dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Account":["Nephrology"]},"synonyms":["dds"," denys drash syndrome"," denys-drash syndrome"," denys-drash syndrome, autosomal dominant, somatic mutation"," nephropathy, wilms tumor, and genital anomalies"," nephrotic syndrome type 4"," nephrotic syndrome with pseudohermaphroditism"," wilms tumor and pseudo- or true hermaphroditism"," wilms tumor and pseudohermaphroditism"," wilms tumor-disorder of sex development syndrome"," wilms tumor-dsd syndrome"," wilms tumour and pseudohermaphroditism"," wilms' tumor and nephrotic syndrome with pseudohermaphroditism"]}