{"Name":"Hereditary spastic paraplegia 25","DiseaseID__c":"GARD:0009582","id":9582,"encodedName":"hereditary-spastic-paraplegia-25","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 25","Xref_IDs__c":"732933009; C2936860; C536861; DOID:0110776; MEDGEN:424835; MONDO:0011992; OMIM:608220; ORPHA:101005","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011992","Disease_Description__c":"Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.","GARD_Name__c":"Hereditary spastic paraplegia 25","GARD_Synonym__c":"autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia disc herniation syndrome; autosomal recessive spastic paraplegia type 25; autosomal recessive spastic paraplegia-disc herniation syndrome; disc herniation with spastic paraplegia, autosomal recessive; hereditary spastic paraplegia type 25; spastic paraplegia 25, autosomal recessive; spg25","Curated_Disease_Description_Source__c":"MONDO:0011992","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:101005","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011992","ORPHANET_ID__c":"ORPHA:101005","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 25","Spanish_Description_Source__c":"ORPHA:101005","Spanish_Description__c":"Es un tipo poco frecuente y complejo de paraparesia espástica hereditaria caracterizado por paraparesia espástica de inicio en la edad adulta asociado a dolor espinal que irradia a las extremidades superiores o inferiores y que está relacionado con una hernia discal (con leve espondilosis), así como a neuropatía sensitivo-motora. El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 6q23-q24.1.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 25","Spanish_GARD_Synonym__c":"paraplejía espástica autosómica recesiva-hernia de disco; spg25","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":"Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.","Curated_Disease_Description_Source__c":"MONDO:0011992","GARD_Synonym__c":"autosomal recessive spastic paraplegia 25; autosomal recessive spastic paraplegia disc herniation syndrome; autosomal recessive spastic paraplegia type 25; autosomal recessive spastic paraplegia-disc herniation syndrome; disc herniation with spastic paraplegia, autosomal recessive; hereditary spastic paraplegia type 25; spastic paraplegia 25, autosomal recessive; spg25","Name":"Hereditary spastic paraplegia 25","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:101005"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110776","Source__c":"MONDO:0011992","Xref__c":"DOID:0110776"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536861","Source__c":"MONDO:0011992","Xref__c":"C536861"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936860","Source__c":"C2936860","Xref__c":"C2936860"},{"URL__c":"https://www.orpha.net/en/disease/detail/101005","Source__c":"C2936860; MONDO:0011992; ORPHA:101005","Xref__c":"ORPHA:101005"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732933009","Source__c":"C2936860; MONDO:0011992","Xref__c":"732933009"},{"URL__c":"https://www.omim.org/entry/608220","Source__c":"C2936860; MONDO:0011992; ORPHA:101005","Xref__c":"OMIM:608220"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=424835","Source__c":"C2936860","Xref__c":"MEDGEN:424835"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011992","Source__c":"GARD:0009582","Xref__c":"MONDO:0011992"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more herniated nucleus pulposus of intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008441","HPO_Synonym__c":"Herniated intervertebral nuclei","HPO_Name__c":"Herniation of intervertebral nuclei","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030833","HPO_Synonym__c":"Neck pain","HPO_Name__c":"Neck pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008480","HPO_Synonym__c":"Cervical osteoarthritis; Cervical spine degeneration; Neck arthritis","HPO_Name__c":"Cervical spondylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete 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:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001087","HPO_Synonym__c":"Childhood glaucoma; Infantile glaucoma; Pediatric glaucoma","HPO_Name__c":"Developmental glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012513","HPO_Synonym__c":"Upper limb pain","HPO_Name__c":"Upper limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the lumbar vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100712","HPO_Synonym__c":"Abnormality of the lumbar spine","HPO_Name__c":"Abnormal lumbar spine morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness or partial paralysis in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002385","HPO_Synonym__c":"Partial paralysis of legs","HPO_Name__c":"Paraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003134","HPO_Synonym__c":"Sensory and motor nerve conduction abnormalities","HPO_Name__c":"Abnormality of peripheral nerve conduction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal recessive spastic paraplegia 25"," autosomal recessive spastic paraplegia disc herniation syndrome"," autosomal recessive spastic paraplegia type 25"," autosomal recessive spastic paraplegia-disc herniation syndrome"," disc herniation with spastic paraplegia, autosomal recessive"," hereditary spastic paraplegia type 25"," spastic paraplegia 25, autosomal recessive"," spg25"]}