{"Name":"Hereditary spastic paraplegia 17","DiseaseID__c":"GARD:0004219","id":4219,"encodedName":"hereditary-spastic-paraplegia-17","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 17","Xref_IDs__c":"C2931276; C536644; DOID:0110770; MEDGEN:419034; MONDO:0010043; OMIM:270685; ORPHA:100998","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":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010043","Disease_Description__c":"Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.","GARD_Name__c":"Hereditary spastic paraplegia 17","GARD_Synonym__c":"autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; bscl2 hereditary spastic paraplegia; dhmn5b; distal hereditary motor neuropathy type 5b; hereditary spastic paraplegia caused by mutation in bscl2; hereditary spastic paraplegia type 17; silver disease; silver spastic paraplegia syndrome; silver syndrome; spastic paraplegia 17; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; spg17","Curated_Disease_Description_Source__c":"MONDO:0010043","Curated_Disease_Description__c":"Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:100998","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010043","ORPHANET_ID__c":"ORPHA:100998","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica dominante tipo 17","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica autosómica dominante tipo 17","Spanish_GARD_Synonym__c":"paraplejía espástica-amiotrofia de manos y pies; spg17; síndrome de silver","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":"Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.","Curated_Disease_Description_Source__c":"MONDO:0010043","GARD_Synonym__c":"autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; bscl2 hereditary spastic paraplegia; dhmn5b; distal hereditary motor neuropathy type 5b; hereditary spastic paraplegia caused by mutation in bscl2; hereditary spastic paraplegia type 17; silver disease; silver spastic paraplegia syndrome; silver syndrome; spastic paraplegia 17; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; spg17","Name":"Hereditary spastic paraplegia 17","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":"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":"Adult","Provided_By__c":"ORPHA:100998"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:100998"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:100998"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931276"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004219","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1307","Source__c":"Gene Review","Xref__c":"NBK1307"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110770","Source__c":"MONDO:0010043","Xref__c":"DOID:0110770"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536644","Source__c":"MONDO:0010043","Xref__c":"C536644"},{"URL__c":"https://www.orpha.net/en/disease/detail/100998","Source__c":"C2931276; MONDO:0010043; ORPHA:100998","Xref__c":"ORPHA:100998"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931276","Source__c":"C2931276","Xref__c":"C2931276"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419034","Source__c":"C2931276","Xref__c":"MEDGEN:419034"},{"URL__c":"https://www.omim.org/entry/270685","Source__c":"C2931276; MONDO:0010043; ORPHA:100998","Xref__c":"OMIM:270685"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230263009","Source__c":"C2931276","Xref__c":"230263009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010043","Source__c":"GARD:0004219","Xref__c":"MONDO:0010043"},{"URL__c":"https://medlineplus.gov/genetics/condition/silver-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/silver-syndrome","Source__c":"GARD:0004219","Xref__c":"https://medlineplus.gov/genetics/condition/silver-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BSCL2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bscl2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Frequent (30-79%)","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:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the muscles that lift or otherwise move the foot at the ankle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031374","HPO_Name__c":"Ankle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040131","HPO_Name__c":"Abnormal motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Frequent (30-79%)","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:100998","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009130","HPO_Synonym__c":"Amyotrophy involving the musculature of the hand; Amyotrophy of hand muscles; Hand muscle degeneration; Hand muscle wasting; Hand muscle wasting, bilateral","HPO_Name__c":"Hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the musculature of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001436","HPO_Synonym__c":"Abnormal foot muscles","HPO_Name__c":"Abnormality of the foot musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","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 hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030838","HPO_Synonym__c":"Hip pain","HPO_Name__c":"Hip pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:100998","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100998","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 knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia","Peripheral Neuropathy"]},"synonyms":["autosomal dominant spastic paraplegia 17"," autosomal dominant spastic paraplegia type 17"," bscl2 hereditary spastic paraplegia"," dhmn5b"," distal hereditary motor neuropathy type 5b"," hereditary spastic paraplegia caused by mutation in bscl2"," hereditary spastic paraplegia type 17"," silver disease"," silver spastic paraplegia syndrome"," silver syndrome"," spastic paraplegia 17"," spastic paraplegia with amyotrophy of hands and feet"," spastic paraplegia-amyotrophy of hands and feet"," spg17"]}