{"Name":"X-linked hereditary sensory and autonomic neuropathy with hearing loss","DiseaseID__c":"GARD:0012731","id":12731,"encodedName":"x-linked-hereditary-sensory-and-autonomic-neuropathy-with-hearing-loss","IsDeleted":false,"Disease_Name_Full__c":"X-linked hereditary sensory and autonomic neuropathy with hearing loss","Xref_IDs__c":"719838008; C4304400; C564472; DOID:0111741; MEDGEN:930069; MONDO:0010378; OMIM:300614; ORPHA:139583","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010378","Disease_Description__c":"A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.","GARD_Name__c":"X-linked hereditary sensory and autonomic neuropathy with hearing loss","GARD_Synonym__c":"x-linked auditory neuropathy with peripheral sensory neuropathy type 1; x-linked hereditary sensory and autonomic neuropathy with deafness; x-linked hsan (hereditary sensory and autonomic neuropathy) with deafness; x-linked hsan with deafness; x-linked hsan with hearing loss","Curated_Disease_Description_Source__c":"ORPHA:139583","Curated_Disease_Description__c":"This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:139583","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010378","ORPHANET_ID__c":"ORPHA:139583","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria ligada al cromosoma x con sordera","Spanish_Description_Source__c":"ORPHA:139583","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de una neuropatía sensitiva axonal y autonómica con pérdida auditiva.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria ligada al cromosoma x con sordera","Spanish_GARD_Synonym__c":"neuropatía auditiva con neuropatía periférica sensitiva ligada al cromosoma x tipo 1; neuropatía sensitiva autonómica hereditaria ligada al cromosoma x con hipoacusia; nsah con hipoacusia ligada al cromosoma x; nsah con sordera ligada al cromosoma x","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":"This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.","Curated_Disease_Description_Source__c":"ORPHA:139583","GARD_Synonym__c":"x-linked auditory neuropathy with peripheral sensory neuropathy type 1; x-linked hereditary sensory and autonomic neuropathy with deafness; x-linked hsan (hereditary sensory and autonomic neuropathy) with deafness; x-linked hsan with deafness; x-linked hsan with hearing loss","Name":"X-linked hereditary sensory and autonomic neuropathy with hearing loss","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.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":"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":"Childhood","Provided_By__c":"ORPHA:139583"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845095"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564472","Source__c":"MONDO:0010378","Xref__c":"C564472"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930069","Source__c":"C4304400","Xref__c":"MEDGEN:930069"},{"URL__c":"https://www.omim.org/entry/300614","Source__c":"MONDO:0010378; ORPHA:139583","Xref__c":"OMIM:300614"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111741","Source__c":"MONDO:0010378","Xref__c":"DOID:0111741"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304400","Source__c":"C4304400","Xref__c":"C4304400"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719838008","Source__c":"C4304400; MONDO:0010378","Xref__c":"719838008"},{"URL__c":"https://www.orpha.net/en/disease/detail/139583","Source__c":"C4304400; MONDO:0010378; ORPHA:139583","Xref__c":"ORPHA:139583"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010378","Source__c":"GARD:0012731","Xref__c":"MONDO:0010378"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AIFM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300614","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300614","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:300614","Feature__r":{"HPO_Description__c":"A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001963","HPO_Synonym__c":"Abnormal speech discrimination; Poor speech discrimination","HPO_Name__c":"Abnormal speech discrimination","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300614","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004454","HPO_Name__c":"Abnormal middle ear reflexes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300614","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300614","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300614","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by underdevelopment of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034585","HPO_Name__c":"Cochlear nerve hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300614","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"}},{"Provided_By__c":"OMIM:300614","Feature__r":{"HPO_Description__c":"An axonal neuropathy of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003390","HPO_Synonym__c":"Axonal sensory neuropathy","HPO_Name__c":"Sensory axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["x-linked auditory neuropathy with peripheral sensory neuropathy type 1"," x-linked hereditary sensory and autonomic neuropathy with deafness"," x-linked hsan (hereditary sensory and autonomic neuropathy) with deafness"," x-linked hsan with deafness"," x-linked hsan with hearing loss"]}