{"Name":"Spastic paraplegia-precocious puberty syndrome","DiseaseID__c":"GARD:0004918","id":4918,"encodedName":"spastic-paraplegia-precocious-puberty-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic paraplegia-precocious puberty syndrome","Xref_IDs__c":"C1866850; C536874; MEDGEN:401096; MONDO:0008443; OMIM:182820; ORPHA:2826","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008443","Disease_Description__c":"Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Spastic paraplegia-precocious puberty syndrome","GARD_Synonym__c":"precocious puberty with spastic paraplegia","Curated_Disease_Description_Source__c":"MONDO:0008443","Curated_Disease_Description__c":"Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2826","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008443","ORPHANET_ID__c":"ORPHA:2826","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paraplejía espástica-pubertad precoz","Spanish_Description_Source__c":"ORPHA:2826","Spanish_Description__c":"El síndrome de paraplejía espástica-pubertad precoz es una forma compleja de paraplejía espástica hereditaria caracterizada por la aparición de paraplejía espástica progresiva asociada a pubertad precoz (debido a la hiperplasia de células de Leydig) en la infancia (a la edad de 2 años). También se observó discapacidad intelectual moderada. No ha habido descripciones adicionales en la literatura desde 1983.","Spanish_Disease_Name__c":"síndrome de paraplejía espástica-pubertad precoz","Spanish_GARD_Synonym__c":null,"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":"Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0008443","GARD_Synonym__c":"precocious puberty with spastic paraplegia","Name":"Spastic paraplegia-precocious puberty syndrome","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:2826"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2826","Source__c":"C1866850; MONDO:0008443","Xref__c":"ORPHA:2826"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401096","Source__c":"C1866850","Xref__c":"MEDGEN:401096"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866850","Source__c":"C1866850","Xref__c":"C1866850"},{"URL__c":"https://www.omim.org/entry/182820","Source__c":"C1866850; MONDO:0008443; ORPHA:2826","Xref__c":"OMIM:182820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536874","Source__c":"MONDO:0008443","Xref__c":"C536874"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008443","Source__c":"GARD:0004918","Xref__c":"MONDO:0008443"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2826","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:2826","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007020","HPO_Name__c":"Progressive spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2826","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2826","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The onset of puberty before the age of 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008185","HPO_Synonym__c":"Early onset of puberty in males; Male precocious puberty","HPO_Name__c":"Precocious puberty in males","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2826","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010791","HPO_Name__c":"Hyperplasia of the Leydig cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2826","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001348","HPO_Synonym__c":"Brisk deep tendon reflexes","HPO_Name__c":"Brisk reflexes","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":["precocious puberty with spastic paraplegia"]}