{"Name":"Hereditary spastic paraplegia 72","DiseaseID__c":"GARD:0017660","id":17660,"encodedName":"hereditary-spastic-paraplegia-72","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 72","Xref_IDs__c":"C5882669; DOID:0110817; MEDGEN:1847422; MONDO:0014282; OMIM:615625; ORPHA:401849","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:0014282","Disease_Description__c":"Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.","GARD_Name__c":"Hereditary spastic paraplegia 72","GARD_Synonym__c":"autosomal spastic paraplegia type 72; hereditary spastic paraplegia type 72; pure hereditary spastic paraplegia caused by mutation in reep2; reep2 pure hereditary spastic paraplegia; spastic paraplegia 72, autosomal recessive; spg72; spg72a","Curated_Disease_Description_Source__c":"ORPHA:401849","Curated_Disease_Description__c":"Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:401849","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014282","ORPHANET_ID__c":"ORPHA:401849","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica tipo 72","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica autosómica tipo 72","Spanish_GARD_Synonym__c":"spg72","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 spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.","Curated_Disease_Description_Source__c":"ORPHA:401849","GARD_Synonym__c":"autosomal spastic paraplegia type 72; hereditary spastic paraplegia type 72; pure hereditary spastic paraplegia caused by mutation in reep2; reep2 pure hereditary spastic paraplegia; spastic paraplegia 72, autosomal recessive; spg72; spg72a","Name":"Hereditary spastic paraplegia 72","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:401849"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5882669","Source__c":"C5882669","Xref__c":"C5882669"},{"URL__c":"https://www.omim.org/entry/615625","Source__c":"C5882669; MONDO:0014282; ORPHA:401849","Xref__c":"OMIM:615625"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1847422","Source__c":"C5882669","Xref__c":"MEDGEN:1847422"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110817","Source__c":"MONDO:0014282","Xref__c":"DOID:0110817"},{"URL__c":"https://www.orpha.net/en/disease/detail/401849","Source__c":"C5882669; MONDO:0014282","Xref__c":"ORPHA:401849"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014282","Source__c":"GARD:0017660","Xref__c":"MONDO:0014282"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"REEP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cognitive, psychiatric, or memory anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011446","HPO_Synonym__c":"Abnormality of higher mental function","HPO_Name__c":"Abnormality of mental function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal function of a sphincter of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002839","HPO_Synonym__c":"Sphincter disturbance; Sphincter disturbances","HPO_Name__c":"Urinary bladder sphincter dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006938","HPO_Synonym__c":"Decreased vibration sense at ankles; Decreased vibration sense in feet; Impaired vibration sensation at ankles","HPO_Name__c":"Impaired vibration sensation at ankles","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","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:401849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401849","HPO_Frequency__c":"Frequent (30-79%)","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:401849","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal spastic paraplegia type 72"," hereditary spastic paraplegia type 72"," pure hereditary spastic paraplegia caused by mutation in reep2"," reep2 pure hereditary spastic paraplegia"," spastic paraplegia 72, autosomal recessive"," spg72"," spg72a"]}