{"Name":"Schwannomatosis","DiseaseID__c":"GARD:0004768","id":4768,"encodedName":"schwannomatosis","IsDeleted":false,"Disease_Name_Full__c":"Schwannomatosis","Xref_IDs__c":"C1335929; C6557; DOID:3204; MEDGEN:234775; MONDO:0008075; OMIMPS:162091; ORPHA:93921; Q85.03","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008075","Disease_Description__c":"A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.","GARD_Name__c":"Schwannomatosis","GARD_Synonym__c":"neurinomatosis; neurofibromatosis type 3; nf3","Curated_Disease_Description_Source__c":"GARD:0004768","Curated_Disease_Description__c":"Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor. The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal. Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:93921","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008075","ORPHANET_ID__c":"ORPHA:93921","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Schwannomatosis completa","Spanish_Description_Source__c":"ORPHA:93921","Spanish_Description__c":"Es una forma poco frecuente de neurofibromatosis caracterizada por el desarrollo de múltiples schwannomas (tumores de la vaina nerviosa), sin afectación de los nervios vestibulares y, a menudo, asociada a dolor crónico. También puede manifestar disestesia y parestesia. Las localizaciones más comunes incluyen la columna vertebral, los nervios periféricos y el cráneo.","Spanish_Disease_Name__c":"schwannomatosis completa","Spanish_GARD_Synonym__c":"neurilemomatosis; neurofibromatosis tipo 3 completa; nf3 completa; schwannomatosis sin mosaicismo; swn completa","Category_Linearization__c":"ORPHA:98006","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":"Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor. The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal. Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.","Curated_Disease_Description_Source__c":"GARD:0004768","GARD_Synonym__c":"neurinomatosis; neurofibromatosis type 3; nf3","Name":"Schwannomatosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NF Collective","Website__c":"https://nfcollective.org/"},{"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":"Asociación de Afectados de Neurofibromatosis","Website__c":"https://neurofibromatosis.es/"},{"Account_Name__c":"Asociación Argentina de Neurofibromatosis","Website__c":"https://www.aanf.org.ar/"},{"Account_Name__c":"Todo sobre neurofibromatosis"},{"Account_Name__c":"Nerve Tumours UK","Website__c":"https://nervetumours.org.uk"},{"Account_Name__c":"Children's Tumor Foundation","Website__c":"https://www.ctf.org/"},{"Account_Name__c":"Neurofibromatosis Network","Website__c":"https://www.nfnetwork.org/"},{"Account_Name__c":"Littlest Tumor Foundation","Website__c":"https://littlesttumor.org/"},{"Account_Name__c":"Neurofibromatosis Midwest","Website__c":"https://www.nfmidwest.org/"},{"Account_Name__c":"Neurofibromatosis California","Website__c":"https://www.nfcalifornia.org/"},{"Account_Name__c":"Neurofibromatosis Northeast","Website__c":"https://nfnortheast.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:93921"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:93921"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1335929"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4048809"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004768","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487394","Source__c":"Gene Review","Xref__c":"NBK487394"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS162091","Source__c":"MONDO:0008075","Xref__c":"OMIMPS:162091"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3204","Source__c":"MONDO:0008075","Xref__c":"DOID:3204"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1335929","Source__c":"C1335929","Xref__c":"C1335929"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=234775","Source__c":"C1335929","Xref__c":"MEDGEN:234775"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6557","Source__c":"C1335929; MONDO:0008075","Xref__c":"C6557"},{"URL__c":"https://www.orpha.net/en/disease/detail/93921","Source__c":"C1335929; MONDO:0008075","Xref__c":"ORPHA:93921"},{"URL__c":"https://medlineplus.gov/genetics/condition/schwannomatosis","Source__c":"GARD:0004768","Xref__c":"https://medlineplus.gov/genetics/condition/schwannomatosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008075","Source__c":"GARD:0004768","Xref__c":"MONDO:0008075"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q85.03","Source__c":"MONDO:0008075","Xref__c":"Q85.03"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMARCB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarcb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neoplasm affecting the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010302","HPO_Synonym__c":"Spinal cord tumor; Tumor of the spinal cord","HPO_Name__c":"Spinal cord tumor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A spinal cord hemangioma located in the lumbosacral spine region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410275","HPO_Synonym__c":"Lumbar/sacral hemangioma","HPO_Name__c":"Lumbosacral hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","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:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011750","HPO_Synonym__c":"Neoplasm of the adenohypophysis; Neoplasm of the pars anterior","HPO_Name__c":"Neoplasm of the anterior pituitary","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A benign nerve sheath tumor composed of Schwann cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100008","HPO_Synonym__c":"Neurilemmoma; Neurinoma; Neurolemmoma; Schwann cell tumor","HPO_Name__c":"Schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","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:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012032","HPO_Synonym__c":"Fatty lump; Noncancerous fatty lump","HPO_Name__c":"Lipoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Decreased ability to perceive touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033748","HPO_Synonym__c":"Numbness","HPO_Name__c":"Hypoesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A bilateral vestibular schwannoma (acoustic neurinoma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009589","HPO_Synonym__c":"Bilateral acoustic neuromas","HPO_Name__c":"Bilateral vestibular schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a peripheral schwannoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009593","HPO_Name__c":"Peripheral schwannoma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced intensity (volume) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001621","HPO_Synonym__c":"Quiet voice; Soft voice; Weak voice","HPO_Name__c":"Weak voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93921","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Dermatology"],"Disease Category":["Cancer","Genetics","Neurology","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["neurinomatosis"," neurofibromatosis type 3"," nf3"],"spanishId":12509,"spanishName":"schwannomatosis"}