{"Name":"Hereditary spastic paraplegia 57","DiseaseID__c":"GARD:0017712","id":17712,"encodedName":"hereditary-spastic-paraplegia-57","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 57","Xref_IDs__c":"723826007; C3714897; DOID:0110809; MEDGEN:811490; MONDO:0014295; OMIM:615658; ORPHA:431329","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Description_Source__c":"MONDO:0014295","Disease_Description__c":"Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.","GARD_Name__c":"Hereditary spastic paraplegia 57","GARD_Synonym__c":"autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57; hereditary spastic paraplegia caused by mutation in tfg; hereditary spastic paraplegia type 57; spastic paraplegia 57, autosomal recessive; spastic paraplegia due to partial tfg deficiency; spg57; tfg hereditary spastic paraplegia","Curated_Disease_Description_Source__c":"ORPHA:431329","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in endoplasmic reticulum microtubular architecture and function.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:431329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014295","ORPHANET_ID__c":"ORPHA:431329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 57","Spanish_Description_Source__c":"ORPHA:431329","Spanish_Description__c":"Es un tipo extremadamente complejo e infrecuente de paraparesia espástica hereditaria. Está caracterizada por un inicio en la lactancia de espasticidad pronunciada en las extremidades inferiores (que conduce a incapacidad para deambular de forma independiente), disminución de la agudeza visual por atrofia óptica y atrofia distal de manos y pies debido a una neuropatía sensitivo-motora desmielinizante axonal. La enfermedad está causada por mutaciones en el gen <i>TFG</i> (3q12.2), que codifica la proteína TFG, que se cree que desempeña un papel fundamental en la arquitectura y la función microtubular del retículo endoplasmático.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 57","Spanish_GARD_Synonym__c":"paraplejía espástica por deficiencia parcial de tfg; spg57","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 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in endoplasmic reticulum microtubular architecture and function.","Curated_Disease_Description_Source__c":"ORPHA:431329","GARD_Synonym__c":"autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57; hereditary spastic paraplegia caused by mutation in tfg; hereditary spastic paraplegia type 57; spastic paraplegia 57, autosomal recessive; spastic paraplegia due to partial tfg deficiency; spg57; tfg hereditary spastic paraplegia","Name":"Hereditary spastic paraplegia 57","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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:431329"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3714897","Source__c":"C3714897","Xref__c":"C3714897"},{"URL__c":"https://www.omim.org/entry/615658","Source__c":"C3714897; MONDO:0014295; ORPHA:431329","Xref__c":"OMIM:615658"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110809","Source__c":"MONDO:0014295","Xref__c":"DOID:0110809"},{"URL__c":"https://www.orpha.net/en/disease/detail/431329","Source__c":"C3714897; MONDO:0014295; ORPHA:431329","Xref__c":"ORPHA:431329"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723826007","Source__c":"C3714897; MONDO:0014295","Xref__c":"723826007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=811490","Source__c":"C3714897","Xref__c":"MEDGEN:811490"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014295","Source__c":"GARD:0017712","Xref__c":"MONDO:0014295"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TFG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","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:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012447","HPO_Name__c":"Abnormal myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","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:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","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:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005109","HPO_Synonym__c":"Abnormality of the Achilles tendon; Abnormality of the calcaneal tendon","HPO_Name__c":"Abnormal Achilles tendon morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003698","HPO_Synonym__c":"Difficulty in standing; Standing instability","HPO_Name__c":"Difficulty standing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003134","HPO_Synonym__c":"Sensory and motor nerve conduction abnormalities","HPO_Name__c":"Abnormality of peripheral nerve conduction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:431329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia","Peripheral Neuropathy"]},"synonyms":["autosomal recessive spastic paraplegia 57"," autosomal recessive spastic paraplegia type 57"," hereditary spastic paraplegia caused by mutation in tfg"," hereditary spastic paraplegia type 57"," spastic paraplegia 57, autosomal recessive"," spastic paraplegia due to partial tfg deficiency"," spg57"," tfg hereditary spastic paraplegia"]}