{"Name":"Neurodegeneration with brain iron accumulation 6","DiseaseID__c":"GARD:0012571","id":12571,"encodedName":"neurodegeneration-with-brain-iron-accumulation-6","IsDeleted":false,"Disease_Name_Full__c":"Neurodegeneration with brain iron accumulation 6","Xref_IDs__c":"732264002; C4517377; DOID:0110740; MEDGEN:1387791; MONDO:0014290; OMIM:615643; ORPHA:397725","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014290","Disease_Description__c":"COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.","GARD_Name__c":"Neurodegeneration with brain iron accumulation 6","GARD_Synonym__c":"coasy neurodegeneration with brain iron accumulation; coasy protein-associated neurodegeneration; coenzyme a synthase protein associated neurodegeneration; copan; copan - coenzyme a synthase protein associated neurodegeneration; nbia6; neurodegeneration with brain iron accumulation caused by mutation in coasy; neurodegeneration with brain iron accumulation due to coasy mutation; neurodegeneration with brain iron accumulation type 6","Curated_Disease_Description_Source__c":"MONDO:0014290","Curated_Disease_Description__c":"COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:397725","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014290","ORPHANET_ID__c":"ORPHA:397725","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neurodegeneración asociada con la proteína coasy","Spanish_Description_Source__c":"ORPHA:397725","Spanish_Description__c":"Es una forma muy poco frecuente de neurodegeneración por acúmulo cerebral de hierro (NBIA, por sus siglas en inglés) de progresión lenta que se presenta con las características clásicas del NBIA. Los hallazgos clínicos incluyen paraparesia distónica-espástica de inicio temprano, distonía oromandibular, disartria, parkinsonismo, neuropatía axonal, deterioro cognitivo progresivo, tics motores complejos y trastorno obsesivo-compulsivo.","Spanish_Disease_Name__c":"neurodegeneración asociada con la proteína coasy","Spanish_GARD_Synonym__c":"copan; nbia6; neurodegeneración con acumulación cerebral de hierro por una mutación en el gen coasy","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":"COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.","Curated_Disease_Description_Source__c":"MONDO:0014290","GARD_Synonym__c":"coasy neurodegeneration with brain iron accumulation; coasy protein-associated neurodegeneration; coenzyme a synthase protein associated neurodegeneration; copan; copan - coenzyme a synthase protein associated neurodegeneration; nbia6; neurodegeneration with brain iron accumulation caused by mutation in coasy; neurodegeneration with brain iron accumulation due to coasy mutation; neurodegeneration with brain iron accumulation type 6","Name":"Neurodegeneration with brain iron accumulation 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NBIA Disorders Association","Website__c":"https://www.nbiadisorders.org/"},{"Account_Name__c":"NBIAcure","Website__c":"https://nbiacure.org/"}],"GARD_Disease_Tag__c":[{"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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:397725"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3810230"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012571","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK121988","Source__c":"Gene Review","Xref__c":"NBK121988"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1387791","Source__c":"C4517377","Xref__c":"MEDGEN:1387791"},{"URL__c":"https://www.orpha.net/en/disease/detail/397725","Source__c":"C4517377; MONDO:0014290; ORPHA:397725","Xref__c":"ORPHA:397725"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110740","Source__c":"MONDO:0014290","Xref__c":"DOID:0110740"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732264002","Source__c":"C4517377; MONDO:0014290","Xref__c":"732264002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4517377","Source__c":"C4517377","Xref__c":"C4517377"},{"URL__c":"https://www.omim.org/entry/615643","Source__c":"C4517377; MONDO:0014290; ORPHA:397725","Xref__c":"OMIM:615643"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014290","Source__c":"GARD:0012571","Xref__c":"MONDO:0014290"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COASY","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010994","HPO_Synonym__c":"Abnormality of the neostriatum; Abnormality of the striate nucleus; Abnormality of the striatum","HPO_Name__c":"Abnormal corpus striatum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012048","HPO_Synonym__c":"Cranial dystonia","HPO_Name__c":"Oromandibular dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","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:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the caudate nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002339","HPO_Synonym__c":"Abnormality of the caudate nucleus","HPO_Name__c":"Abnormal caudate nucleus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010663","HPO_Synonym__c":"Abnormal shape of thalamus; Abnormality of thalamus morphology; Abnormality of the thalamus","HPO_Name__c":"Abnormal thalamus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the globus pallidus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002453","HPO_Name__c":"Abnormal globus pallidus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002454","HPO_Name__c":"Eye of the tiger anomaly of globus pallidus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Behavior that consists of repetitive acts, characterized by the feeling that one \\\"has to\\\" perform them, while being aware that these acts are not in line with one's overall goal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000722","HPO_Synonym__c":"Obsessive compulsive behavior; Obsessive compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive disorder; OCD","HPO_Name__c":"Compulsive behaviors","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["coasy neurodegeneration with brain iron accumulation"," coasy protein-associated neurodegeneration"," coenzyme a synthase protein associated neurodegeneration"," copan"," copan - coenzyme a synthase protein associated neurodegeneration"," nbia6"," neurodegeneration with brain iron accumulation caused by mutation in coasy"," neurodegeneration with brain iron accumulation due to coasy mutation"," neurodegeneration with brain iron accumulation type 6"]}