{"Name":"Hereditary spastic paraplegia 61","DiseaseID__c":"GARD:0017656","id":17656,"encodedName":"hereditary-spastic-paraplegia-61","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 61","Xref_IDs__c":"726611001; C3810294; DOID:0110812; MEDGEN:816624; MONDO:0014304; OMIM:615685; ORPHA:401780","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:0014304","Disease_Description__c":"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the <i>ARL6IP1</i> gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.","GARD_Name__c":"Hereditary spastic paraplegia 61","GARD_Synonym__c":"arl6ip1 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia caused by mutation in arl6ip1; autosomal recessive spastic paraplegia 61; autosomal recessive spastic paraplegia type 61; hereditary spastic paraplegia type 61; spastic paraplegia 61, autosomal recessive; spg61","Curated_Disease_Description_Source__c":"MONDO:0014304","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:401780","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014304","ORPHANET_ID__c":"ORPHA:401780","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 61","Spanish_Description_Source__c":"ORPHA:401780","Spanish_Description__c":"Es una forma compleja y poco frecuente de paraparesia espástica hereditaria caracterizada por un inicio en la lactancia de paraparesia espástica (que se presenta con incapacidad para deambular sin apoyo y marcha en tijera) asociada a polineuropatía motora y sensitiva con pérdida de los dedos terminales y acropatía. La enfermedad es debida a una mutación en el gen <i>ARL6IP1</i> (16p12-p11.2) que codifica para la proteína 1 de interacción con la proteína 6 similar al factor de ADP-ribosilación.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 61","Spanish_GARD_Synonym__c":"spg61","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 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.","Curated_Disease_Description_Source__c":"MONDO:0014304","GARD_Synonym__c":"arl6ip1 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia caused by mutation in arl6ip1; autosomal recessive spastic paraplegia 61; autosomal recessive spastic paraplegia type 61; hereditary spastic paraplegia type 61; spastic paraplegia 61, autosomal recessive; spg61","Name":"Hereditary spastic paraplegia 61","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":"Infancy","Provided_By__c":"ORPHA:401780"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810294","Source__c":"C3810294","Xref__c":"C3810294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816624","Source__c":"C3810294","Xref__c":"MEDGEN:816624"},{"URL__c":"https://www.orpha.net/en/disease/detail/401780","Source__c":"C3810294; MONDO:0014304; ORPHA:401780","Xref__c":"ORPHA:401780"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726611001","Source__c":"C3810294; MONDO:0014304","Xref__c":"726611001"},{"URL__c":"https://www.omim.org/entry/615685","Source__c":"C3810294; MONDO:0014304; ORPHA:401780","Xref__c":"OMIM:615685"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110812","Source__c":"MONDO:0014304","Xref__c":"DOID:0110812"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014304","Source__c":"GARD:0017656","Xref__c":"MONDO:0014304"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARL6IP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012407","HPO_Synonym__c":"Scissor gait; Scissor walk; Scissoring gait; Scissoring of the lower extremities; Scissoring of the lower limbs; Scissors gait","HPO_Name__c":"Scissor gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007083","HPO_Synonym__c":"Hyperreflexia in knees; Overactive knee reflex","HPO_Name__c":"Hyperactive patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005109","HPO_Synonym__c":"Abnormality of the Achilles tendon; Abnormality of the calcaneal tendon","HPO_Name__c":"Abnormal Achilles tendon morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["arl6ip1 autosomal recessive complex spastic paraplegia"," autosomal recessive complex spastic paraplegia caused by mutation in arl6ip1"," autosomal recessive spastic paraplegia 61"," autosomal recessive spastic paraplegia type 61"," hereditary spastic paraplegia type 61"," spastic paraplegia 61, autosomal recessive"," spg61"]}