{"Name":"Neuropathy, hereditary sensory and autonomic, type 1A","DiseaseID__c":"GARD:0015095","id":15095,"encodedName":"neuropathy-hereditary-sensory-and-autonomic-type-1a","IsDeleted":false,"Disease_Name_Full__c":"Neuropathy, hereditary sensory and autonomic, type 1A","Xref_IDs__c":"C5235211; DOID:0070152; MEDGEN:1716450; MONDO:0008086; OMIM:162400","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008086","Disease_Description__c":"An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.","GARD_Name__c":"Neuropathy, hereditary sensory and autonomic, type 1A","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1; hereditary sensory and autonomic neuropathy type ia; hereditary sensory autonomic neuropathy type ia; hereditary sensory neuropathy type ia; hsan ia; hsan1a; hsn ia; neuropathy, hereditary sensory and autonomic, type ia; neuropathy, hereditary sensory radicular, autosomal dominant, type 1a; sptlc1 hereditary sensory and autonomic neuropathy type 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is a genetic disorder. It affects the nervous system. It can cause problems with feeling sensations and controlling automatic body functions. Most people with this condition develop symptoms in adulthood. Symptoms include muscle weakness and a gradual loss of feeling in their hands and feet. This can lead to complications like ulcers and bone infections. In some cases, the symptoms can be more severe and may appear in childhood. HSAN1A is caused by mutations in the SPTLC1 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:162400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008086","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is a genetic disorder. It affects the nervous system. It can cause problems with feeling sensations and controlling automatic body functions. Most people with this condition develop symptoms in adulthood. Symptoms include muscle weakness and a gradual loss of feeling in their hands and feet. This can lead to complications like ulcers and bone infections. In some cases, the symptoms can be more severe and may appear in childhood. HSAN1A is caused by mutations in the SPTLC1 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1; hereditary sensory and autonomic neuropathy type ia; hereditary sensory autonomic neuropathy type ia; hereditary sensory neuropathy type ia; hsan ia; hsan1a; hsn ia; neuropathy, hereditary sensory and autonomic, type ia; neuropathy, hereditary sensory radicular, autosomal dominant, type 1a; sptlc1 hereditary sensory and autonomic neuropathy type 1","Name":"Neuropathy, hereditary sensory and autonomic, type 1A","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.org"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1390","Source__c":"Gene Review","Xref__c":"NBK1390"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070152","Source__c":"MONDO:0008086","Xref__c":"DOID:0070152"},{"URL__c":"https://www.omim.org/entry/162400","Source__c":"C5235211; MONDO:0008086","Xref__c":"OMIM:162400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5235211","Source__c":"C5235211","Xref__c":"C5235211"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1716450","Source__c":"C5235211","Xref__c":"MEDGEN:1716450"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008086","Source__c":"GARD:0015095","Xref__c":"MONDO:0008086"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=860813007","Source__c":"C5235211","Xref__c":"860813007"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia","Source__c":"GARD:0015095","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPTLC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sptlc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006121","HPO_Name__c":"Acral ulceration","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"The spontaneous detachment of a foot from the body due to long standing pathology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001868","HPO_Name__c":"Autoamputation of foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:162400","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:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006937","HPO_Synonym__c":"Decreased distal touch sense; Decreased touch sensation in extremities","HPO_Name__c":"Impaired distal tactile sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fasciculations or fibrillation affecting the tongue muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001308","HPO_Synonym__c":"Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue","HPO_Name__c":"Tongue fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"A reduced number of large myelinated nerve fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003387","HPO_Synonym__c":"Depletion of large myelinated fibers; Loss of large myelinated fibers; Loss of larger myelinated nerve fibers","HPO_Name__c":"Decreased number of large peripheral myelinated nerve fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"Reduced speed of conduction of the action potential along a sensory nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003448","HPO_Synonym__c":"Decreased sensory NCV; Decreased sensory nerve conduction velocities","HPO_Name__c":"Decreased sensory nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006858","HPO_Synonym__c":"Distal sensory loss of proprioception","HPO_Name__c":"Impaired distal proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"An infection of bone of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001886","HPO_Synonym__c":"Foot bone infection","HPO_Name__c":"Foot osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","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:162400","Feature__r":{"HPO_Description__c":"An abnormality characterized by chronic impairment of the normal functioning of the axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007267","HPO_Synonym__c":"Chronic sural axonal neuropathy","HPO_Name__c":"Chronic axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003409","HPO_Synonym__c":"Distal sensory loss to all modalities","HPO_Name__c":"Distal sensory impairment of all modalities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162400","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1"," hereditary sensory and autonomic neuropathy type ia"," hereditary sensory autonomic neuropathy type ia"," hereditary sensory neuropathy type ia"," hsan ia"," hsan1a"," hsn ia"," neuropathy, hereditary sensory and autonomic, type ia"," neuropathy, hereditary sensory radicular, autosomal dominant, type 1a"," sptlc1 hereditary sensory and autonomic neuropathy type 1"]}