{"Name":"Testicular agenesis","DiseaseID__c":"GARD:0005819","id":5819,"encodedName":"testicular-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Testicular agenesis","Xref_IDs__c":"371015003; C0405582; MEDGEN:98344; MONDO:0017967; ORPHA:325124","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:325124","Disease_Description__c":"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.","GARD_Name__c":"Testicular agenesis","GARD_Synonym__c":"absent testicle (congenital); agenesis of testis; bilateral anorchia; congenital absence of testis","Curated_Disease_Description_Source__c":"ORPHA:325124","Curated_Disease_Description__c":"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:325124","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017967","ORPHANET_ID__c":"ORPHA:325124","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia testicular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"agenesia testicular","Spanish_GARD_Synonym__c":"anorquidia bilateral","Category_Linearization__c":"ORPHA:93890","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 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.","Curated_Disease_Description_Source__c":"ORPHA:325124","GARD_Synonym__c":"absent testicle (congenital); agenesis of testis; bilateral anorchia; congenital absence of testis","Name":"Testicular agenesis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"}],"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":"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:325124"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98344","Source__c":"C0405582","Xref__c":"MEDGEN:98344"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371015003","Source__c":"MONDO:0017967","Xref__c":"371015003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0405582","Source__c":"C0405582","Xref__c":"C0405582"},{"URL__c":"https://www.orpha.net/en/disease/detail/325124","Source__c":"C0405582; MONDO:0017967","Xref__c":"ORPHA:325124"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=274151005","Source__c":"C0405582","Xref__c":"274151005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017967","Source__c":"GARD:0005819","Xref__c":"MONDO:0017967"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003548004","Source__c":"C0405582","Xref__c":"1003548004"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012872","HPO_Name__c":"Abnormal vas deferens morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000013","HPO_Synonym__c":"Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus","HPO_Name__c":"Hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis not palpable in the scrotum or inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010469","HPO_Synonym__c":"Absence of palpable testicules; Absent testes; Aplasia of the testes","HPO_Name__c":"Absent testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of external genitalia in a male or female individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000042","HPO_Synonym__c":"Absent external genitalia","HPO_Name__c":"Absent external genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","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:325124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a fistula between the vagina and the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008716","HPO_Synonym__c":"Urethrovaginal fistulae","HPO_Name__c":"Urethrovaginal fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012870","HPO_Synonym__c":"Vanishing testis","HPO_Name__c":"Vanishing testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["absent testicle (congenital)"," agenesis of testis"," bilateral anorchia"," congenital absence of testis"]}