{"Name":"Hereditary spastic paraplegia 23","DiseaseID__c":"GARD:0000336","id":336,"encodedName":"hereditary-spastic-paraplegia-23","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 23","Xref_IDs__c":"726608002; C0796019; C536859; DOID:0110774; MEDGEN:167094; MONDO:0010046; OMIM:270750; ORPHA:101003","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:0010046","Disease_Description__c":"Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.","GARD_Name__c":"Hereditary spastic paraplegia 23","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in dstyk; autosomal recessive spastic paraplegia type 23; dstyk autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 23; lison syndrome; spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraparesis, vitiligo, premature graying, characteristic facies; spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities; spg23","Curated_Disease_Description_Source__c":"MONDO:0010046","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with 'sharp' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:101003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010046","ORPHANET_ID__c":"ORPHA:101003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 23","Spanish_Description_Source__c":"ORPHA:101003","Spanish_Description__c":"Es una forma poco frecuente y compleja de paraparesia espástica hereditaria. Se presenta en la infancia con paraparesia espástica progresiva asociada a neuropatía periférica, alteraciones de la pigmentación cutánea (tales como vitíligo, hiperpigmentación, léntigos difusos), encanecimiento prematuro del cabello, y una facies característica (es decir, delgada con rasgos pronunciados). El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 1q24-q32.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 23","Spanish_GARD_Synonym__c":"paraplejía espástica-vitíligo-canicie precoz-facies característica; spg23; síndrome de lison","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 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with 'sharp' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.","Curated_Disease_Description_Source__c":"MONDO:0010046","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in dstyk; autosomal recessive spastic paraplegia type 23; dstyk autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 23; lison syndrome; spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraparesis, vitiligo, premature graying, characteristic facies; spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome; spastic paraplegia 23; spastic paraplegia with pigmentary abnormalities; spg23","Name":"Hereditary spastic paraplegia 23","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:101003"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796019"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000336","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/270750","Source__c":"C0796019; MONDO:0010046; ORPHA:101003","Xref__c":"OMIM:270750"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796019","Source__c":"C0796019","Xref__c":"C0796019"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110774","Source__c":"MONDO:0010046","Xref__c":"DOID:0110774"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726608002","Source__c":"C0796019; MONDO:0010046","Xref__c":"726608002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167094","Source__c":"C0796019","Xref__c":"MEDGEN:167094"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536859","Source__c":"MONDO:0010046","Xref__c":"C536859"},{"URL__c":"https://www.orpha.net/en/disease/detail/101003","Source__c":"C0796019; MONDO:0010046; ORPHA:101003","Xref__c":"ORPHA:101003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010046","Source__c":"GARD:0000336","Xref__c":"MONDO:0010046"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSTYK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, irresistible need to have a bowel movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012701","HPO_Synonym__c":"Fecal urgency","HPO_Name__c":"Bowel urgency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Occasional (5-29%)","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:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary fecal soiling in adults and children who have usually already been toilet trained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002607","HPO_Synonym__c":"Anal incontinence; Fecal incontinence; Loss of bowel control","HPO_Name__c":"Bowel incontinence","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypopigmented hair that appears silver-gray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002218","HPO_Synonym__c":"Silver-gray hair; Silver-gray hair color; Silvery-gray hair","HPO_Name__c":"Silver-gray hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002064","HPO_Synonym__c":"Spastic walk","HPO_Name__c":"Spastic gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001003","HPO_Name__c":"Multiple lentigines","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal 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 recessive complex spastic paraplegia caused by mutation in dstyk"," autosomal recessive spastic paraplegia type 23"," dstyk autosomal recessive complex spastic paraplegia"," hereditary spastic paraplegia type 23"," lison syndrome"," spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome"," spastic paraparesis, vitiligo, premature graying, characteristic facies"," spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome"," spastic paraplegia 23"," spastic paraplegia with pigmentary abnormalities"," spg23"]}