{"Name":"Chronic inflammatory demyelinating polyradiculoneuropathy","DiseaseID__c":"GARD:0006102","id":6102,"encodedName":"chronic-inflammatory-demyelinating-polyradiculoneuropathy","IsDeleted":false,"Disease_Name_Full__c":"Chronic inflammatory demyelinating polyradiculoneuropathy","Xref_IDs__c":"128209004; C0393819; C84636; D020277; DOID:5213; G61.81; MEDGEN:98292; MONDO:0006702; ORPHA:2932","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0006702","Disease_Description__c":"A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.","GARD_Name__c":"Chronic inflammatory demyelinating polyradiculoneuropathy","GARD_Synonym__c":"chronic inflammatory demyelinating polyneuritis; chronic inflammatory demyelinating polyneuropathy; chronic relapsing polyneuropathy; cidp; cidp - chronic inflammatory demyelinating polyneuropathy; cidp - chronic inflammatory demyelinating polyradiculoneuropathy","Curated_Disease_Description_Source__c":"GARD:0006102","Curated_Disease_Description__c":"Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes, fatigue, and abnormal sensations. Other symptoms may include pain, difficulty swallowing (dysphagia), and double vision (diplopia). CIDP is thought to be caused by the immune system mistakenly attacking and damaging the myelin sheath (protective cover of nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the \"chronic counterpart\" of GBS.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2932","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006702","ORPHANET_ID__c":"ORPHA:2932","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polineuropatía desmielinizante inflamatoria crónica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"polineuropatía desmielinizante inflamatoria crónica","Spanish_GARD_Synonym__c":"cidp; polirradiculoneuropatía desmielinizante inflamatoria crónica","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":"Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes, fatigue, and abnormal sensations. Other symptoms may include pain, difficulty swallowing (dysphagia), and double vision (diplopia). CIDP is thought to be caused by the immune system mistakenly attacking and damaging the myelin sheath (protective cover of nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the \"chronic counterpart\" of GBS.","Curated_Disease_Description_Source__c":"GARD:0006102","GARD_Synonym__c":"chronic inflammatory demyelinating polyneuritis; chronic inflammatory demyelinating polyneuropathy; chronic relapsing polyneuropathy; cidp; cidp - chronic inflammatory demyelinating polyneuropathy; cidp - chronic inflammatory demyelinating polyradiculoneuropathy","Name":"Chronic inflammatory demyelinating polyradiculoneuropathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Inflammatory Neuropathies UK","Website__c":"https://www.inflammatoryneuropathies.uk/"},{"Account_Name__c":"GBS/CIDP Foundation International","Website__c":"https://www.gbs-cidp.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.org"},{"Account_Name__c":"Guillain Barré Syndrome Support Group NZ Trust","Website__c":"https://gbsnz.org.nz/"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2932"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2932"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2932"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2932"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0393819"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020277","Source__c":"C0393819; MONDO:0006702","Xref__c":"D020277"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G61.81","Source__c":"MONDO:0006702","Xref__c":"G61.81"},{"URL__c":"https://www.orpha.net/en/disease/detail/2932","Source__c":"C0393819; MONDO:0006702; ORPHA:2932","Xref__c":"ORPHA:2932"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84636","Source__c":"C0393819; MONDO:0006702","Xref__c":"C84636"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5213","Source__c":"MONDO:0006702","Xref__c":"DOID:5213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98292","Source__c":"C0393819","Xref__c":"MEDGEN:98292"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393819","Source__c":"C0393819","Xref__c":"C0393819"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128209004","Source__c":"C0393819; MONDO:0006702","Xref__c":"128209004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006702","Source__c":"GARD:0006102","Xref__c":"MONDO:0006702"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034135","HPO_Synonym__c":"Anti-NF155 antibody positivity","HPO_Name__c":"Anti-neurofascin-155 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010871","HPO_Synonym__c":"Afferent ataxia; Ataxia, sensory; Spinal ataxia","HPO_Name__c":"Sensory ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010833","HPO_Name__c":"Spontaneous pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blockade of impulses at a focal site along the course of a motor axon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012078","HPO_Name__c":"Motor conduction block","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034138","HPO_Synonym__c":"Anti-CASPR1 antibody positivity","HPO_Name__c":"Anti-contactin-associated protein 1 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034136","HPO_Synonym__c":"Anti-NF186 antibody positivity","HPO_Name__c":"Anti-neurofascin 186 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034137","HPO_Synonym__c":"Anti-CNTN1 antibody positivity","HPO_Name__c":"Anti-contactin-1 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030200","HPO_Name__c":"Fatiguable weakness of proximal limb muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","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:2932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002527","HPO_Synonym__c":"Falls","HPO_Name__c":"Falls","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","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:2932","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:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040129","HPO_Synonym__c":"Abnormal nerve conduction; Abnormal nerve conduction velocities; Nerve conduction abnormalities","HPO_Name__c":"Abnormal nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003481","HPO_Synonym__c":"Segmental demyelination/remyelination","HPO_Name__c":"Segmental peripheral demyelination/remyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["chronic inflammatory demyelinating polyneuritis"," chronic inflammatory demyelinating polyneuropathy"," chronic relapsing polyneuropathy"," cidp"," cidp - chronic inflammatory demyelinating polyneuropathy"," cidp - chronic inflammatory demyelinating polyradiculoneuropathy"]}