{"Name":"Hereditary spastic paraplegia 16","DiseaseID__c":"GARD:0009585","id":9585,"encodedName":"hereditary-spastic-paraplegia-16","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 16","Xref_IDs__c":"C1846046; C536643; DOID:0110769; MEDGEN:375796; MONDO:0010287; OMIM:300266; ORPHA:100997","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010287","Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.","GARD_Name__c":"Hereditary spastic paraplegia 16","GARD_Synonym__c":"hereditary spastic paraplegia type 16; spastic paraplegia 16, x-linked; spastic paraplegia 16, x-linked, complicated, x-linked recessive; spg16; x-linked spastic paraplegia 16; x-linked spastic paraplegia type 16","Curated_Disease_Description_Source__c":"MONDO:0010287","Curated_Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:100997","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010287","ORPHANET_ID__c":"ORPHA:100997","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica ligada al cromosoma x tipo 16","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica ligada al cromosoma x tipo 16","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":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.","Curated_Disease_Description_Source__c":"MONDO:0010287","GARD_Synonym__c":"hereditary spastic paraplegia type 16; spastic paraplegia 16, x-linked; spastic paraplegia 16, x-linked, complicated, x-linked recessive; spg16; x-linked spastic paraplegia 16; x-linked spastic paraplegia type 16","Name":"Hereditary spastic paraplegia 16","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:100997"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/100997","Source__c":"C1846046; MONDO:0010287; ORPHA:100997","Xref__c":"ORPHA:100997"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375796","Source__c":"C1846046","Xref__c":"MEDGEN:375796"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536643","Source__c":"MONDO:0010287","Xref__c":"C536643"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110769","Source__c":"MONDO:0010287","Xref__c":"DOID:0110769"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846046","Source__c":"C1846046","Xref__c":"C1846046"},{"URL__c":"https://www.omim.org/entry/300266","Source__c":"C1846046; MONDO:0010287; ORPHA:100997","Xref__c":"OMIM:300266"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783697000","Source__c":"C1846046","Xref__c":"783697000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010287","Source__c":"GARD:0009585","Xref__c":"MONDO:0010287"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002427","HPO_Synonym__c":"Broca's aphasia; Loss of expressive speech; Motor aphasia; Non-fluent aphasia","HPO_Name__c":"Expressive aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal functionality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012719","HPO_Synonym__c":"Functional abnormality of the GI tract; GI dysfunction","HPO_Name__c":"Functional abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"This term applies for all abnormalities of the big toe, also called hallux.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001844","HPO_Synonym__c":"Abnormalities of the hallux; Abnormality of the big toe; Abnormality of the hallux","HPO_Name__c":"Abnormal hallux morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002445","HPO_Synonym__c":"Paralysis of all four limbs; Quadriplegia","HPO_Name__c":"Tetraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["hereditary spastic paraplegia type 16"," spastic paraplegia 16, x-linked"," spastic paraplegia 16, x-linked, complicated, x-linked recessive"," spg16"," x-linked spastic paraplegia 16"," x-linked spastic paraplegia type 16"]}