{"Name":"46,XY sex reversal 11","DiseaseID__c":"GARD:0016552","id":16552,"encodedName":"46xy-sex-reversal-11","IsDeleted":false,"Disease_Name_Full__c":"46,XY sex reversal 11","Xref_IDs__c":"53599007; C0266427; C120200; C537770; MEDGEN:78602; MONDO:8000015; OMIM:273250; ORPHA:983","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:8000015","Disease_Description__c":"Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.","GARD_Name__c":"46,XY sex reversal 11","GARD_Synonym__c":"46, xy sex reversal 11; anorchia, familial; embryonic testicular regression syndrome; etrs; srxy11; testicular regression - embryonic; testicular regression syndrome; testicular regression, embryonic; trs; vanishing testes syndrome; vanishing testis; vanishing testis syndrome; xy gonadal agenesis syndrome","Curated_Disease_Description_Source__c":"ORPHA:983","Curated_Disease_Description__c":"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:983","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:8000015","ORPHANET_ID__c":"ORPHA:983","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de regresión testicular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de regresión testicular","Spanish_GARD_Synonym__c":"etrs; síndrome de testículos desvanecidos; síndrome embrionario de regresión testicular; trs","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":"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.","Curated_Disease_Description_Source__c":"ORPHA:983","GARD_Synonym__c":"46, xy sex reversal 11; anorchia, familial; embryonic testicular regression syndrome; etrs; srxy11; testicular regression - embryonic; testicular regression syndrome; testicular regression, embryonic; trs; vanishing testes syndrome; vanishing testis; vanishing testis syndrome; xy gonadal agenesis syndrome","Name":"46,XY sex reversal 11","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.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":"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:983"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1547","Source__c":"Gene Review","Xref__c":"NBK1547"},{"URL__c":"https://www.omim.org/entry/273250","Source__c":"C0266427; MONDO:8000015; ORPHA:983","Xref__c":"OMIM:273250"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=53599007","Source__c":"C0266427; MONDO:8000015","Xref__c":"53599007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266427","Source__c":"C0266427","Xref__c":"C0266427"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78602","Source__c":"C0266427","Xref__c":"MEDGEN:78602"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537770","Source__c":"MONDO:8000015","Xref__c":"C537770"},{"URL__c":"https://www.orpha.net/en/disease/detail/983","Source__c":"C0266427; MONDO:8000015; ORPHA:983","Xref__c":"ORPHA:983"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_8000015","Source__c":"GARD:0016552","Xref__c":"MONDO:8000015"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120200","Source__c":"C0266427","Xref__c":"C120200"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012870","Source__c":"C0266427","Xref__c":"HP:0012870"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DHX37","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the male internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000022","HPO_Name__c":"Abnormal male internal genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010468","HPO_Synonym__c":"Absent/small testes; Absent/underdeveloped testes","HPO_Name__c":"Aplasia/Hypoplasia of the testes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","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:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","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:983","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008633","HPO_Synonym__c":"Absent gonadal tissue; Gonadal agenesis","HPO_Name__c":"Agonadism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:983","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["46, xy sex reversal 11"," anorchia, familial"," embryonic testicular regression syndrome"," etrs"," srxy11"," testicular regression - embryonic"," testicular regression syndrome"," testicular regression, embryonic"," trs"," vanishing testes syndrome"," vanishing testis"," vanishing testis syndrome"," xy gonadal agenesis syndrome"]}