{"Name":"Frasier syndrome","DiseaseID__c":"GARD:0002375","id":2375,"encodedName":"frasier-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Frasier syndrome","Xref_IDs__c":"445431000; C0950122; C122805; D052159; DOID:0050438; MEDGEN:215533; MONDO:0007635; OMIM:136680; ORPHA:347","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007635","Disease_Description__c":"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.","GARD_Name__c":"Frasier syndrome","GARD_Synonym__c":"frasier syndrome, autosomal dominant, somatic mutation","Curated_Disease_Description_Source__c":"MONDO:0007635","Curated_Disease_Description__c":"Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier 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 internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads 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":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007635","ORPHANET_ID__c":"ORPHA:347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de frasier","Spanish_Description_Source__c":"ORPHA:347","Spanish_Description__c":"Es un trastorno glomerular sindrómico poco frecuente y de origen genético caracterizado por la asociación de nefropatía glomerular progresiva y disgenesia gonadal completa 46,XY con un riesgo elevado de desarrollar gonadoblastoma.","Spanish_Disease_Name__c":"síndrome de frasier","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":"Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier 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 internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads 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":"MONDO:0007635","GARD_Synonym__c":"frasier syndrome, autosomal dominant, somatic mutation","Name":"Frasier syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NephCure Kidney International","Website__c":"https://nephcure.org/"}],"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":"Adolescent","Provided_By__c":"ORPHA:347"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:347"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:347"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0950122"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002375","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK556455","Source__c":"Gene Review","Xref__c":"NBK556455"},{"URL__c":"https://www.orpha.net/en/disease/detail/347","Source__c":"C0950122; MONDO:0007635; ORPHA:347","Xref__c":"ORPHA:347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=215533","Source__c":"C0950122","Xref__c":"MEDGEN:215533"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445431000","Source__c":"C0950122; MONDO:0007635","Xref__c":"445431000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C052159","Source__c":"C0950122; MONDO:0007635","Xref__c":"D052159"},{"URL__c":"https://www.omim.org/entry/136680","Source__c":"C0950122; MONDO:0007635; ORPHA:347","Xref__c":"OMIM:136680"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122805","Source__c":"C0950122; MONDO:0007635","Xref__c":"C122805"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0950122","Source__c":"C0950122","Xref__c":"C0950122"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050438","Source__c":"MONDO:0007635","Xref__c":"DOID:0050438"},{"URL__c":"https://medlineplus.gov/genetics/condition/frasier-syndrome","Source__c":"GARD:0002375","Xref__c":"https://medlineplus.gov/genetics/condition/frasier-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007635","Source__c":"GARD:0002375","Xref__c":"MONDO:0007635"}],"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:347","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:347","HPO_Frequency__c":"Always (100%)","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:347","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100820","HPO_Synonym__c":"Diseased glomeruli","HPO_Name__c":"Glomerulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000150","HPO_Name__c":"Gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Uncommon (<1-4%)","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:347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008723","HPO_Name__c":"Gonadal dysgenesis with female appearance, male","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Frequent (30-79%)","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:347","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:347","HPO_Frequency__c":"Very frequent (80-99%)","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:347","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:347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010464","HPO_Name__c":"Streak ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia in an individual with XY genetic sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000033","HPO_Synonym__c":"Ambiguous genitalia in males","HPO_Name__c":"Ambiguous genitalia, male","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below normal concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008214","HPO_Synonym__c":"Decreased serum estradiol","HPO_Name__c":"Decreased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","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":["frasier syndrome, autosomal dominant, somatic mutation"]}