{"Name":"Hereditary spastic paraplegia 29","DiseaseID__c":"GARD:0009729","id":9729,"encodedName":"hereditary-spastic-paraplegia-29","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 29","Xref_IDs__c":"733029008; C1857855; C536863; DOID:0110780; MEDGEN:346682; MONDO:0012334; OMIM:609727; ORPHA:101009","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:0012334","Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.","GARD_Name__c":"Hereditary spastic paraplegia 29","GARD_Synonym__c":"autosomal dominant spastic paraplegia 29; autosomal dominant spastic paraplegia type 29; hereditary spastic paraplegia type 29; spastic paraplegia 29, autosomal dominant; spg29","Curated_Disease_Description_Source__c":"MONDO:0012334","Curated_Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:101009","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012334","ORPHANET_ID__c":"ORPHA:101009","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica dominante tipo 29","Spanish_Description_Source__c":"ORPHA:101009","Spanish_Description__c":"Es una forma compleja de paraparesia espástica hereditaria caracterizada por paraparesia espástica de presentación en la adolescencia asociada a las manifestaciones adicionales de afectación auditiva sensorial por neuropatía auditiva y vómitos persistentes por hernia hiatal o paraesofágica.","Spanish_Disease_Name__c":"paraplejía espástica autosómica dominante tipo 29","Spanish_GARD_Synonym__c":"spg29","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 complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.","Curated_Disease_Description_Source__c":"MONDO:0012334","GARD_Synonym__c":"autosomal dominant spastic paraplegia 29; autosomal dominant spastic paraplegia type 29; hereditary spastic paraplegia type 29; spastic paraplegia 29, autosomal dominant; spg29","Name":"Hereditary spastic paraplegia 29","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":"Adolescent","Provided_By__c":"ORPHA:101009"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346682","Source__c":"C1857855","Xref__c":"MEDGEN:346682"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536863","Source__c":"MONDO:0012334","Xref__c":"C536863"},{"URL__c":"https://www.omim.org/entry/609727","Source__c":"C1857855; MONDO:0012334; ORPHA:101009","Xref__c":"OMIM:609727"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857855","Source__c":"C1857855","Xref__c":"C1857855"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733029008","Source__c":"C1857855; MONDO:0012334","Xref__c":"733029008"},{"URL__c":"https://www.orpha.net/en/disease/detail/101009","Source__c":"C1857855; MONDO:0012334; ORPHA:101009","Xref__c":"ORPHA:101009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110780","Source__c":"MONDO:0012334","Xref__c":"DOID:0110780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012334","Source__c":"GARD:0009729","Xref__c":"MONDO:0012334"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002034","HPO_Synonym__c":"Abnormality of the rectum; Anomaly of the rectum","HPO_Name__c":"Abnormal rectum morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","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:101009","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007350","HPO_Synonym__c":"Hyperreflexia in upper limbs","HPO_Name__c":"Upper limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the lower urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010936","HPO_Name__c":"Abnormality of the lower urinary tract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A loss or impairment of the sensation of the relative position of parts of the body and joint position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010831","HPO_Synonym__c":"Abnormality of proprioception","HPO_Name__c":"Impaired proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002169","HPO_Synonym__c":"Involuntary rhythmic muscular contractions and relaxations","HPO_Name__c":"Clonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100790","HPO_Name__c":"Hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101009","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002036","HPO_Synonym__c":"Hiatal hernia; Stomach hernia","HPO_Name__c":"Hiatus hernia","Feature_System__c":"Musculoskeletal System; Digestive 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 dominant spastic paraplegia 29"," autosomal dominant spastic paraplegia type 29"," hereditary spastic paraplegia type 29"," spastic paraplegia 29, autosomal dominant"," spg29"]}