{"Name":"Brooke-Spiegler syndrome","DiseaseID__c":"GARD:0010179","id":10179,"encodedName":"brooke-spiegler-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brooke-Spiegler syndrome","Xref_IDs__c":"703531009; C1857941; C205541; C43352; DOID:0050693; MEDGEN:346703; MONDO:0011512; OMIM:605041; ORPHA:79493","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011512","Disease_Description__c":"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas","GARD_Name__c":"Brooke-Spiegler syndrome","GARD_Synonym__c":"cyld cutaneous syndrome; spiegler-brooke syndrome","Curated_Disease_Description_Source__c":"GARD:0010179","Curated_Disease_Description__c":"Brooke-Spiegler syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in Brooke-Spiegler syndrome may include cylindromas, spiradenomas, and trichoepitheliomas. The number of tumors increases over time, and in severe cases, tumors can cover most of the scalp. Rarely, a tumor will become cancerous. Other complications may include an increased risk to develop basal cell cancer of the salivary gland or deafness due to the growth of a tumor in the ear canal. Brooke-Spiegler syndrome is caused by genetic variants in the CYLD gene and is inherited in an autosomal dominant pattern. Diagnosis of Brooke-Spiegler syndrome is based on the symptoms, clinical exam, and microscopic exam of the tumor tissue. Results of genetic testing may help confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:79493","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011512","ORPHANET_ID__c":"ORPHA:79493","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de brooke-spiegler","Spanish_Description_Source__c":"ORPHA:79493","Spanish_Description__c":"Es una enfermedad poco frecuente de origen genético caracterizada como un síndrome de predisposición hereditaria a los tumores de los anejos cutáneos, tales como cilindromas, espiradenomas y tricoepiteliomas.","Spanish_Disease_Name__c":"síndrome de brooke-spiegler","Spanish_GARD_Synonym__c":"síndrome cutáneo cyld","Category_Linearization__c":"ORPHA:89826","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":"Brooke-Spiegler syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in Brooke-Spiegler syndrome may include cylindromas, spiradenomas, and trichoepitheliomas. The number of tumors increases over time, and in severe cases, tumors can cover most of the scalp. Rarely, a tumor will become cancerous. Other complications may include an increased risk to develop basal cell cancer of the salivary gland or deafness due to the growth of a tumor in the ear canal. Brooke-Spiegler syndrome is caused by genetic variants in the CYLD gene and is inherited in an autosomal dominant pattern. Diagnosis of Brooke-Spiegler syndrome is based on the symptoms, clinical exam, and microscopic exam of the tumor tissue. Results of genetic testing may help confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0010179","GARD_Synonym__c":"cyld cutaneous syndrome; spiegler-brooke syndrome","Name":"Brooke-Spiegler syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Adolescent","Provided_By__c":"ORPHA:79493"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79493"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857941"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK555820","Source__c":"Gene Review","Xref__c":"NBK555820"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857941","Source__c":"C1857941","Xref__c":"C1857941"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346703","Source__c":"C1857941","Xref__c":"MEDGEN:346703"},{"URL__c":"https://www.omim.org/entry/605041","Source__c":"C1857941; MONDO:0011512; ORPHA:79493","Xref__c":"OMIM:605041"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703531009","Source__c":"C1857941; MONDO:0011512","Xref__c":"703531009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050693","Source__c":"MONDO:0011512","Xref__c":"DOID:0050693"},{"URL__c":"https://www.orpha.net/en/disease/detail/79493","Source__c":"C1857941; MONDO:0011512; ORPHA:79493","Xref__c":"ORPHA:79493"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C43352","Source__c":"C1857941","Xref__c":"C43352"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C205541","Source__c":"MONDO:0011512","Xref__c":"C205541"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011512","Source__c":"GARD:0010179","Xref__c":"MONDO:0011512"},{"URL__c":"https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYLD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyld","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010288","HPO_Name__c":"Abnormality of the sublingual glands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign skin adnexal tumor of eccrine differentiation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031024","HPO_Name__c":"Cylindroma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012842","HPO_Synonym__c":"Skin adnexal neoplasm; Skin adnexal tumor","HPO_Name__c":"Skin appendage neoplasm","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025367","HPO_Name__c":"Trichoepithelioma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A papule with the same color as the surrounding skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025512","HPO_Synonym__c":"Flesh-colored papule","HPO_Name__c":"Skin-colored papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010287","HPO_Synonym__c":"Abnormality of the submaxillary glands","HPO_Name__c":"Abnormality of the submandibular glands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010732","HPO_Synonym__c":"Eyelid nodules","HPO_Name__c":"Nodular changes affecting the eyelids","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the external acoustic tube (also known as the auditory canal).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000372","HPO_Synonym__c":"Abnormality of the auditory canal; Auditory canal abnormality","HPO_Name__c":"Abnormal auditory canal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Frequent (30-79%)","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:79493","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of a salivary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100684","HPO_Synonym__c":"Salivary gland neoplasia","HPO_Name__c":"Salivary gland neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007606","HPO_Name__c":"Multiple cutaneous malignancies","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["cyld cutaneous syndrome"," spiegler-brooke syndrome"]}