{"Name":"Hereditary spastic paraplegia 64","DiseaseID__c":"GARD:0017659","id":17659,"encodedName":"hereditary-spastic-paraplegia-64","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 64","Xref_IDs__c":"726609005; C3810289; DOID:0110815; MEDGEN:816619; MONDO:0014303; OMIM:615683; ORPHA:401810","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Description_Source__c":"MONDO:0014303","Disease_Description__c":"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.","GARD_Name__c":"Hereditary spastic paraplegia 64","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in entpd1; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64; entpd1 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 64; spastic paraplegia 64, autosomal recessive; spg64","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 64 (SPG64) is a very rare and complex inherited neurological condition. It is characterized by muscle stiffness and weakness in the legs. This is known as spastic paraplegia and can cause difficulty walking. Other symptoms include microcephaly. Microcephaly is a smaller than usual head size. SPG64 also causes muscle wasting (amyotrophy) and problems with coordination and speech. People with this condition may display aggressiveness and delayed puberty. They may have mild to moderate intellectual disability. It is caused by changes in a gene called ENTPD1.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:401810","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014303","ORPHANET_ID__c":"ORPHA:401810","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 64","Spanish_Description_Source__c":"ORPHA:401810","Spanish_Description__c":"Es una forma extremadamente poco frecuente y compleja de paraparesia espástica hereditaria. Hasta la fecha solo se ha descrito en 4 pacientes de 2 familias. Se caracteriza por una paraparesia espástica (que se manifiesta en forma de marcha anómala entre los 1 y 4 años de edad) asociada a microcefalia, amiotrofia, signos cerebelosos (por ejemplo, disartria), comportamiento agresivo, pubertad retrasada y discapacidad intelectual de leve a moderada. Esta enfermedad está causada por mutaciones en el gen <i>ENTPD1</i> (10q24.1), que codifica la proteína ecto-nucleosido-trifosfato difosfohidrolasa 1.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 64","Spanish_GARD_Synonym__c":"spg64","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 64 (SPG64) is a very rare and complex inherited neurological condition. It is characterized by muscle stiffness and weakness in the legs. This is known as spastic paraplegia and can cause difficulty walking. Other symptoms include microcephaly. Microcephaly is a smaller than usual head size. SPG64 also causes muscle wasting (amyotrophy) and problems with coordination and speech. People with this condition may display aggressiveness and delayed puberty. They may have mild to moderate intellectual disability. It is caused by changes in a gene called ENTPD1.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in entpd1; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64; entpd1 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 64; spastic paraplegia 64, autosomal recessive; spg64","Name":"Hereditary spastic paraplegia 64","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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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:401810"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:401810"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK592266","Source__c":"Gene Review","Xref__c":"NBK592266"},{"URL__c":"https://www.orpha.net/en/disease/detail/401810","Source__c":"C3810289; MONDO:0014303; ORPHA:401810","Xref__c":"ORPHA:401810"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726609005","Source__c":"C3810289; MONDO:0014303","Xref__c":"726609005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110815","Source__c":"MONDO:0014303","Xref__c":"DOID:0110815"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816619","Source__c":"C3810289","Xref__c":"MEDGEN:816619"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810289","Source__c":"C3810289","Xref__c":"C3810289"},{"URL__c":"https://www.omim.org/entry/615683","Source__c":"C3810289; MONDO:0014303; ORPHA:401810","Xref__c":"OMIM:615683"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014303","Source__c":"GARD:0017659","Xref__c":"MONDO:0014303"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ENTPD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:401810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006889","HPO_Synonym__c":"Intellectual disability, borderline; Mental retardation, borderline","HPO_Name__c":"Borderline intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","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:401810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","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:401810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal recessive complex spastic paraplegia caused by mutation in entpd1"," autosomal recessive spastic paraplegia 64"," autosomal recessive spastic paraplegia type 64"," entpd1 autosomal recessive complex spastic paraplegia"," hereditary spastic paraplegia type 64"," spastic paraplegia 64, autosomal recessive"," spg64"]}