{"Name":"Hereditary spastic paraplegia 14","DiseaseID__c":"GARD:0009589","id":9589,"encodedName":"hereditary-spastic-paraplegia-14","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 14","Xref_IDs__c":"C1854568; C537486; DOID:0110767; MEDGEN:343157; MONDO:0011522; OMIM:605229; ORPHA:100995","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011522","Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.","GARD_Name__c":"Hereditary spastic paraplegia 14","GARD_Synonym__c":"autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14; hereditary spastic paraplegia type 14; spastic paraplegia 14; spastic paraplegia 14, autosomal recessive; spg14","Curated_Disease_Description_Source__c":"MONDO:0011522","Curated_Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:100995","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011522","ORPHANET_ID__c":"ORPHA:100995","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 14","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 14","Spanish_GARD_Synonym__c":"spg14","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":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.","Curated_Disease_Description_Source__c":"MONDO:0011522","GARD_Synonym__c":"autosomal recessive spastic paraplegia 14; autosomal recessive spastic paraplegia type 14; hereditary spastic paraplegia type 14; spastic paraplegia 14; spastic paraplegia 14, autosomal recessive; spg14","Name":"Hereditary spastic paraplegia 14","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"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:100995"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110767","Source__c":"MONDO:0011522","Xref__c":"DOID:0110767"},{"URL__c":"https://www.omim.org/entry/605229","Source__c":"C1854568; MONDO:0011522; ORPHA:100995","Xref__c":"OMIM:605229"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854568","Source__c":"C1854568","Xref__c":"C1854568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537486","Source__c":"MONDO:0011522","Xref__c":"C537486"},{"URL__c":"https://www.orpha.net/en/disease/detail/100995","Source__c":"C1854568; MONDO:0011522; ORPHA:100995","Xref__c":"ORPHA:100995"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343157","Source__c":"C1854568","Xref__c":"MEDGEN:343157"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783094006","Source__c":"C1854568","Xref__c":"783094006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011522","Source__c":"GARD:0009589","Xref__c":"MONDO:0011522"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002064","HPO_Synonym__c":"Spastic walk","HPO_Name__c":"Spastic gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007002","HPO_Name__c":"Motor axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006895","HPO_Name__c":"Lower limb hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:100995","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal recessive spastic paraplegia 14"," autosomal recessive spastic paraplegia type 14"," hereditary spastic paraplegia type 14"," spastic paraplegia 14"," spastic paraplegia 14, autosomal recessive"," spg14"]}