{"Name":"Adrenomyeloneuropathy","DiseaseID__c":"GARD:0010614","id":10614,"encodedName":"adrenomyeloneuropathy","IsDeleted":false,"Disease_Name_Full__c":"Adrenomyeloneuropathy","Xref_IDs__c":"1269423000; 65389002; C1527231; C212036; E71.522; MEDGEN:315918; MONDO:0015339; ORPHA:139399","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015339","Disease_Description__c":"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.","GARD_Name__c":"Adrenomyeloneuropathy","GARD_Synonym__c":"adult onset adrenoleukodystrophy; amn; amn - adrenomyeloneuropathy","Curated_Disease_Description_Source__c":"GARD:0010614","Curated_Disease_Description__c":"Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual dysfunction; and bladder control issues. Some people with AMN also have brain involvement which can lead to behavioral abnormalities, vision loss, hearing problems, and/or seizures. AMN is caused by changes in the ABCD1 gene and is inherited in an X-linked manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:139399","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015339","ORPHANET_ID__c":"ORPHA:139399","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Adrenomieloneuropatía","Spanish_Description_Source__c":"ORPHA:139399","Spanish_Description__c":"Es una forma de adrenoleucodistrofia ligada al cromosoma X, una enfermedad peroxisomal, que se caracteriza por mielopatía progresiva y neuropatía periférica, y a menudo asociada a una insuficiencia suprarrenal periférica en varones. Por lo general, el inicio es en la edad adulta.","Spanish_Disease_Name__c":"adrenomieloneuropatía","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual dysfunction; and bladder control issues. Some people with AMN also have brain involvement which can lead to behavioral abnormalities, vision loss, hearing problems, and/or seizures. AMN is caused by changes in the ABCD1 gene and is inherited in an X-linked manner.","Curated_Disease_Description_Source__c":"GARD:0010614","GARD_Synonym__c":"adult onset adrenoleukodystrophy; amn; amn - adrenomyeloneuropathy","Name":"Adrenomyeloneuropathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"ALD Alliance","Website__c":"https://www.aldalliance.org/"},{"Account_Name__c":"Arrivederci ALD","Website__c":"https://www.arrivederciald.org/"},{"Account_Name__c":"Fight ALD","Website__c":"https://www.fightald.org/"},{"Account_Name__c":"Global DARE Foundation","Website__c":"https://www.defeatadultrefsumeverywhere.org/"},{"Account_Name__c":"Hunter's Hope Foundation","Website__c":"https://www.huntershope.org/"},{"Account_Name__c":"Leukodystrophy Resource & Research Organisation","Website__c":"https://www.facebook.com/LeukodystrophyRRO/"},{"Account_Name__c":"RARE-X","Website__c":"https://rare-x.org/patients/"},{"Account_Name__c":"Remember The Girls","Website__c":"https://rememberthegirls.org/"},{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Leukodystrophy Australia","Website__c":"https://www.leuko.org.au/"},{"Account_Name__c":"The Myelin Project","Website__c":"http://www.myelin.org"},{"Account_Name__c":"Association Européenne contre les Leucodystrophies (ELA)","Website__c":"http://www.ela-asso.com"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"ALD Connect","Website__c":"https://aldconnect.org/"},{"Account_Name__c":"National Adrenal Diseases Foundation","Website__c":"https://www.nadf.us"},{"Account_Name__c":"The Stop ALD Foundation","Website__c":"https://www.stopald.org/"},{"Account_Name__c":"European Leukodystrophies Association","Website__c":"https://ela-asso.com/en/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139399"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/X-ALD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1527231"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010614","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1315","Source__c":"Gene Review","Xref__c":"NBK1315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65389002","Source__c":"MONDO:0015339","Xref__c":"65389002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1527231","Source__c":"C1527231","Xref__c":"C1527231"},{"URL__c":"https://www.orpha.net/en/disease/detail/139399","Source__c":"C1527231; MONDO:0015339; ORPHA:139399","Xref__c":"ORPHA:139399"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=315918","Source__c":"C1527231","Xref__c":"MEDGEN:315918"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E71.522","Source__c":"MONDO:0015339","Xref__c":"E71.522"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1269423000","Source__c":"C1527231","Xref__c":"1269423000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015339","Source__c":"GARD:0010614","Xref__c":"MONDO:0015339"},{"URL__c":"https://aldconnect.org/wp-content/uploads/2024/10/FDA-Listening-Session-for-AMN_FINAL.pdf"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C212036","Source__c":"C1527231","Xref__c":"C212036"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; 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While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. 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