{"Name":"Neuromyelitis optica","DiseaseID__c":"GARD:0006267","id":6267,"encodedName":"neuromyelitis-optica","IsDeleted":false,"Disease_Name_Full__c":"Neuromyelitis optica","Xref_IDs__c":"25044007; C0027873; C84934; D009471; DOID:8869; G36.0; MEDGEN:45063; MONDO:0019100; ORPHA:71211","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019100","Disease_Description__c":"A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.","GARD_Name__c":"Neuromyelitis optica","GARD_Synonym__c":"devic disease; devic syndrome; devic's disease; devic's syndrome; neuromyelitis optica spectrum disorder; nmo; nmosd; optic neuromyelitis; smon - subacute myelo-optico-neuropathy","Curated_Disease_Description_Source__c":"GARD:0006267","Curated_Disease_Description__c":"Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition. Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes. Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica. There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties. Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:71211","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019100","ORPHANET_ID__c":"ORPHA:71211","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno del espectro de la neuromielitis óptica","Spanish_Description_Source__c":"ORPHA:71211","Spanish_Description__c":"Es una enfermedad inflamatoria poco frecuente del sistema nervioso central caracterizada principalmente por episodios de neuritis óptica (NO), uni- o bilateral, y mielitis aguda.","Spanish_Disease_Name__c":"trastorno del espectro de la neuromielitis óptica","Spanish_GARD_Synonym__c":"enfermedad de devic","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":"Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition. Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes. Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica. There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties. Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.","Curated_Disease_Description_Source__c":"GARD:0006267","GARD_Synonym__c":"devic disease; devic syndrome; devic's disease; devic's syndrome; neuromyelitis optica spectrum disorder; nmo; nmosd; optic neuromyelitis; smon - subacute myelo-optico-neuropathy","Name":"Neuromyelitis optica","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.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":"Siegel Rare Neuroimmune Association","Website__c":"https://wearesrna.org/"},{"Account_Name__c":"Guthy-Jackson Charitable Foundation","Website__c":"https://guthyjacksonfoundation.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"National Multiple Sclerosis Society","Website__c":"https://www.nationalmssociety.org/"},{"Account_Name__c":"The Sumaira Foundation","Website__c":"https://www.sumairafoundation.org/"}],"GARD_Disease_Tag__c":[{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:71211"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:71211"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:71211"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:71211"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/71211","Source__c":"C0027873; MONDO:0019100; ORPHA:71211","Xref__c":"ORPHA:71211"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84934","Source__c":"C0027873; MONDO:0019100","Xref__c":"C84934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009471","Source__c":"C0027873; MONDO:0019100","Xref__c":"D009471"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8869","Source__c":"MONDO:0019100","Xref__c":"DOID:8869"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45063","Source__c":"C0027873","Xref__c":"MEDGEN:45063"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=25044007","Source__c":"C0027873; MONDO:0019100","Xref__c":"25044007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027873","Source__c":"C0027873","Xref__c":"C0027873"},{"URL__c":"https://medlineplus.gov/genetics/condition/neuromyelitis-optica","Source__c":"GARD:0006267","Xref__c":"https://medlineplus.gov/genetics/condition/neuromyelitis-optica"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G36.0","Source__c":"MONDO:0019100","Xref__c":"G36.0"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019100","Source__c":"GARD:0006267","Xref__c":"MONDO:0019100"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/neuromyelitis-optica"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011096","HPO_Synonym__c":"Demyelination","HPO_Name__c":"Peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100653","HPO_Name__c":"Optic neuritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased white blood cell count in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012229","HPO_Synonym__c":"Cerebrospinal fluid pleocytosis; Increased leukocyte count in CSF","HPO_Name__c":"CSF pleocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100247","HPO_Synonym__c":"Recurrent hiccough; Recurrent hiccup; Recurrent synchronous diaphragmatic flutter","HPO_Name__c":"Recurrent singultus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012486","HPO_Synonym__c":"Inflammation of spinal cord","HPO_Name__c":"Myelitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012443","HPO_Synonym__c":"Abnormal shape of brain; Abnormality of brain morphology; Abnormality of the brain","HPO_Name__c":"Abnormal brain morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033342","HPO_Synonym__c":"Anti-AQP4 antibody positivity","HPO_Name__c":"Anti-aquaporin 4 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71211","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032492","HPO_Synonym__c":"Anti-MOG antibody positivity","HPO_Name__c":"Anti-myelin oligodendrocyte glycoprotein antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["devic disease"," devic syndrome"," devic's disease"," devic's syndrome"," neuromyelitis optica spectrum disorder"," nmo"," nmosd"," optic neuromyelitis"," smon - subacute myelo-optico-neuropathy"],"spanishId":13728,"spanishName":"neuromielitis-optica"}