{"Name":"SERKAL syndrome","DiseaseID__c":"GARD:0010302","id":10302,"encodedName":"serkal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"SERKAL syndrome","Xref_IDs__c":"723720008; C123726; C2678492; C567517; MEDGEN:394528; MONDO:0012734; OMIM:611812; ORPHA:139466","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012734","Disease_Description__c":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.","GARD_Name__c":"SERKAL syndrome","GARD_Synonym__c":"46,xx sex reversal with dysgenesis of kidneys adrenals and lungs; 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs; serkal; serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome; sex reversion-kidneys, adrenal and lung dysgenesis syndrome; sex reversion, kidney, adrenal and lung dysgenesis syndrome","Curated_Disease_Description_Source__c":"MONDO:0012734","Curated_Disease_Description__c":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:139466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012734","ORPHANET_ID__c":"ORPHA:139466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome serkal","Spanish_Description_Source__c":"ORPHA:139466","Spanish_Description__c":"El síndrome SERKAL (reversión sexual, riñones, disgenesia suprarrenal y pulmonar) está caracterizado por la reversión del sexo femenino a masculino y anomalías en el desarrollo de los riñones, las glándulas suprarrenales y los pulmones.","Spanish_Disease_Name__c":"síndrome serkal","Spanish_GARD_Synonym__c":"reversión sexual-disgenesia adrenal, renal y pulmonar; reversión sexual-disgenesia suprarrenal, renal y pulmonar","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":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.","Curated_Disease_Description_Source__c":"MONDO:0012734","GARD_Synonym__c":"46,xx sex reversal with dysgenesis of kidneys adrenals and lungs; 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs; serkal; serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome; sex reversion-kidneys, adrenal and lung dysgenesis syndrome; sex reversion, kidney, adrenal and lung dysgenesis syndrome","Name":"SERKAL syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:139466"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678492"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010302","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/611812","Source__c":"C2678492; MONDO:0012734; ORPHA:139466","Xref__c":"OMIM:611812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723720008","Source__c":"C2678492; MONDO:0012734","Xref__c":"723720008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567517","Source__c":"MONDO:0012734","Xref__c":"C567517"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394528","Source__c":"C2678492","Xref__c":"MEDGEN:394528"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123726","Source__c":"C2678492; MONDO:0012734","Xref__c":"C123726"},{"URL__c":"https://www.orpha.net/en/disease/detail/139466","Source__c":"C2678492; MONDO:0012734; ORPHA:139466","Xref__c":"ORPHA:139466"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678492","Source__c":"C2678492","Xref__c":"C2678492"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012734","Source__c":"GARD:0010302","Xref__c":"MONDO:0012734"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wnt4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005343","HPO_Synonym__c":"Hypoplastic bladder; Underdeveloped bladder","HPO_Name__c":"Hypoplasia of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004794","HPO_Synonym__c":"Malrotation of the small intestine","HPO_Name__c":"Malrotation of small bowel","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000834","HPO_Synonym__c":"Adrenal abnormalities","HPO_Name__c":"Abnormality of the adrenal glands","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Development of the reproductive system is inconsistent with the chromosomal sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012245","HPO_Name__c":"Sex reversal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the male external sex organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000036","HPO_Synonym__c":"Abnormality of the penis","HPO_Name__c":"Abnormal penis morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"]},"synonyms":["46,xx sex reversal with dysgenesis of kidneys adrenals and lungs"," 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs"," serkal"," serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome"," sex reversion-kidneys, adrenal and lung dysgenesis syndrome"," sex reversion, kidney, adrenal and lung dysgenesis syndrome"]}