{"Name":"Hereditary leiomyomatosis and renal cell cancer","DiseaseID__c":"GARD:0010096","id":10096,"encodedName":"hereditary-leiomyomatosis-and-renal-cell-cancer","IsDeleted":false,"Disease_Name_Full__c":"Hereditary leiomyomatosis and renal cell cancer","Xref_IDs__c":"C1708350; C51302; C535516; MEDGEN:353771; MONDO:0007888; OMIM:150800; ORPHA:523","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007888","Disease_Description__c":"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.","GARD_Name__c":"Hereditary leiomyomatosis and renal cell cancer","GARD_Synonym__c":"cutaneous leiomyomata with uterine leiomyomata; familial leiomyomatosis; familial leiomyomatosis and renal cell cancer; familial leiomyomatosis cutis et uteri; familial leiomyomatosis with renal carcinoma; familial multiple cutaneous leiomyomas; fh tumor predisposition syndrome; hereditary leiomyomatosis; hereditary leiomyomatosis and renal cell cancer syndrome; hereditary leiomyomatosis and renal cell carcinoma; hereditary leiomyomatosis with renal carcinoma; hereditary multiple cutaneous leiomyomas; hlrcc; hlrcc - hereditary leiomyomatosis and renal cell cancer; leiomyoma, hereditary multiple, of skin; leiomyoma, multiple cutaneous; leiomyomatosis and renal cell cancer; mcul; multiple cutaneous and uterine leiomyomas; multiple cutaneous and uterine leiomyomata; multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma; multiple cutaneous and uterine leiomyomatosis; multiple cutaneous leiomyomas; reed syndrome","Curated_Disease_Description_Source__c":"GARD:0010096","Curated_Disease_Description__c":"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause 'goosebumps'. They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful. Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population. Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. People with HLRCC are commonly diagnosed with kidney cancer in their forties. This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:523","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007888","ORPHANET_ID__c":"ORPHA:523","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leiomiomatosis hereditaria y carcinoma de células renales","Spanish_Description_Source__c":"ORPHA:523","Spanish_Description__c":"Es un síndrome de cáncer hereditario caracterizado por una predisposición a los leiomiomas cutáneos y uterinos y, en algunas familias, al carcinoma de células renales.","Spanish_Disease_Name__c":"leiomiomatosis hereditaria y carcinoma de células renales","Spanish_GARD_Synonym__c":"hlrcc; leiomiomas cutáneos múltiples familiares; leiomiomas cutáneos múltiples hereditarios; leiomiomas cutáneos y uterinos múltiples; leiomiomatosis familiar con carcinoma renal; leiomiomatosis familiar con cáncer de células renales; leiomiomatosis familiar cutánea y uterina; leiomiomatosis hereditaria; leiomiomatosis hereditaria con carcinoma renal; mcul; síndrome de reed","Category_Linearization__c":"ORPHA:250908","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":"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause 'goosebumps'. They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful. Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population. Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. People with HLRCC are commonly diagnosed with kidney cancer in their forties. This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).","Curated_Disease_Description_Source__c":"GARD:0010096","GARD_Synonym__c":"cutaneous leiomyomata with uterine leiomyomata; familial leiomyomatosis; familial leiomyomatosis and renal cell cancer; familial leiomyomatosis cutis et uteri; familial leiomyomatosis with renal carcinoma; familial multiple cutaneous leiomyomas; fh tumor predisposition syndrome; hereditary leiomyomatosis; hereditary leiomyomatosis and renal cell cancer syndrome; hereditary leiomyomatosis and renal cell carcinoma; hereditary leiomyomatosis with renal carcinoma; hereditary multiple cutaneous leiomyomas; hlrcc; hlrcc - hereditary leiomyomatosis and renal cell cancer; leiomyoma, hereditary multiple, of skin; leiomyoma, multiple cutaneous; leiomyomatosis and renal cell cancer; mcul; multiple cutaneous and uterine leiomyomas; multiple cutaneous and uterine leiomyomata; multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma; multiple cutaneous and uterine leiomyomatosis; multiple cutaneous leiomyomas; reed syndrome","Name":"Hereditary leiomyomatosis and renal cell cancer","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"},{"Account_Name__c":"HLRCC Foundation","Website__c":"https://hlrccinfo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:523"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:523"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:523"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1708350"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010096","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1252","Source__c":"Gene Review","Xref__c":"NBK1252"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1708350","Source__c":"C1708350","Xref__c":"C1708350"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C51302","Source__c":"C1708350; MONDO:0007888","Xref__c":"C51302"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=353771","Source__c":"C1708350","Xref__c":"MEDGEN:353771"},{"URL__c":"https://www.orpha.net/en/disease/detail/523","Source__c":"C1708350; MONDO:0007888; ORPHA:523","Xref__c":"ORPHA:523"},{"URL__c":"https://www.omim.org/entry/150800","Source__c":"C1708350; MONDO:0007888; ORPHA:523","Xref__c":"OMIM:150800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535516","Source__c":"MONDO:0007888","Xref__c":"C535516"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162799008","Source__c":"C1708350","Xref__c":"1162799008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007437","Source__c":"C1708350","Xref__c":"HP:0007437"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer","Source__c":"GARD:0010096","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007888","Source__c":"GARD:0010096","Xref__c":"MONDO:0007888"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100580","HPO_Synonym__c":"Barret syndrome; Barrett's esophagus; Endobrachyesophagus","HPO_Name__c":"Barrett esophagus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of multiple leiomyomas of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007437","HPO_Name__c":"Multiple cutaneous leiomyomas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100751","HPO_Synonym__c":"Esophageal tumor","HPO_Name__c":"Esophageal neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006732","HPO_Name__c":"Papillary renal cell carcinoma type 2","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100650","HPO_Synonym__c":"Vaginal tumor","HPO_Name__c":"Vaginal neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of leiomyoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007620","HPO_Synonym__c":"Cutaneous leiomyomas; Cutaneous leiomyomata","HPO_Name__c":"Cutaneous leiomyoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a leiomyoma of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000131","HPO_Synonym__c":"Benign uterine leiomyomas; Uterine fibroid","HPO_Name__c":"Uterine leiomyoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:523","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a leiomyosarcoma of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002891","HPO_Name__c":"Uterine leiomyosarcoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Nephrology","Dermatology"],"Cause":["Genetics"],"Account":["Nephrology","Dermatology"]},"synonyms":["cutaneous leiomyomata with uterine leiomyomata"," familial leiomyomatosis"," familial leiomyomatosis and renal cell cancer"," familial leiomyomatosis cutis et uteri"," familial leiomyomatosis with renal carcinoma"," familial multiple cutaneous leiomyomas"," fh tumor predisposition syndrome"," hereditary leiomyomatosis"," hereditary leiomyomatosis and renal cell cancer syndrome"," hereditary leiomyomatosis and renal cell carcinoma"," hereditary leiomyomatosis with renal carcinoma"," hereditary multiple cutaneous leiomyomas"," hlrcc"," hlrcc - hereditary leiomyomatosis and renal cell cancer"," leiomyoma, hereditary multiple, of skin"," leiomyoma, multiple cutaneous"," leiomyomatosis and renal cell cancer"," mcul"," multiple cutaneous and uterine leiomyomas"," multiple cutaneous and uterine leiomyomata"," multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma"," multiple cutaneous and uterine leiomyomatosis"," multiple cutaneous leiomyomas"," reed syndrome"],"spanishId":12840,"spanishName":"leiomiomatosis-hereditaria-y-cancer-de-celulas-renales"}