{"Name":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome","DiseaseID__c":"GARD:0005230","id":5230,"encodedName":"torticollis-keloids-cryptorchidism-renal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome","Xref_IDs__c":"C1839129; C536970; MEDGEN:326819; MONDO:0010748; OMIM:314300; ORPHA:3341","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010748","Disease_Description__c":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.","GARD_Name__c":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome","GARD_Synonym__c":"goeminne syndrome; goeminne tkcr syndrome; tkcr syndrome; torticollis, keloids, cryptorchidism, and renal dysplasia","Curated_Disease_Description_Source__c":"MONDO:0010748","Curated_Disease_Description__c":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3341","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010748","ORPHANET_ID__c":"ORPHA:3341","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tortícolis-queloides-criptorquidia-displasia renal","Spanish_Description_Source__c":"ORPHA:3341","Spanish_Description__c":"Es un síndrome muy poco frecuente por defectos del desarrollo embrionario. Está caracterizado por tortícolis muscular congénita asociada a anomalías cutáneas (tales como múltiples queloides, nevos pigmentados, epitelioma), malformaciones urogenitales (que incluyen criptorquidia e hipospadias) y displasia renal (p. ej., pielonefritis crónica, atrofia renal). Otras características adicionales descritas incluyen venas varicosas, discapacidad intelectual y anomalías musculoesqueléticas.","Spanish_Disease_Name__c":"síndrome de tortícolis-queloides-criptorquidia-displasia renal","Spanish_GARD_Synonym__c":null,"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":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.","Curated_Disease_Description_Source__c":"MONDO:0010748","GARD_Synonym__c":"goeminne syndrome; goeminne tkcr syndrome; tkcr syndrome; torticollis, keloids, cryptorchidism, and renal dysplasia","Name":"Torticollis-keloids-cryptorchidism-renal dysplasia 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":"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":"Infancy","Provided_By__c":"ORPHA:3341"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3341"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/314300","Source__c":"C1839129; MONDO:0010748; ORPHA:3341","Xref__c":"OMIM:314300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839129","Source__c":"C1839129","Xref__c":"C1839129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536970","Source__c":"MONDO:0010748","Xref__c":"C536970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326819","Source__c":"C1839129","Xref__c":"MEDGEN:326819"},{"URL__c":"https://www.orpha.net/en/disease/detail/3341","Source__c":"C1839129; MONDO:0010748","Xref__c":"ORPHA:3341"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010748","Source__c":"GARD:0005230","Xref__c":"MONDO:0010748"}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010562","HPO_Name__c":"Keloids","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"A unilateral form of atrophy of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008717","HPO_Synonym__c":"Kidney degeneration on one side; Unilateral kidney wasting","HPO_Name__c":"Unilateral renal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012330","HPO_Name__c":"Pyelonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314300","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Urologist","Pediatrics"]},"synonyms":["goeminne syndrome"," goeminne tkcr syndrome"," tkcr syndrome"," torticollis, keloids, cryptorchidism, and renal dysplasia"]}