{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0010733/OMIM:312920","label":"Spastic paraplegia 2, X-linked","mondoId":"MONDO:0010733","onsetQualifier":null,"recordKeys":["06d2464ea8fdb4cb9ac2c08d2cb6be40294eec43494589382cda7aad313d45d4","118fe469f9717b518bd28cbc741a2a167116e9a8fbe3dce908d08c106dac18ba","13900298bab6fda776e7275a69b45af84ec488b6e305b09f85c20296b415c0b0","16081a9a68905033f715b4385400c28d4d61195db2d6d4b6bc2643a657f63865","20b842ec4f10b3af382713d35007dff82b22939d76b86d367a540deb4766448a","28021920dcfb7bf8f8f67d50f9382e7ed783e67c0532fc8a107d4c799ec39365","4192200a6a13a8895686691da6dc46a08ddc3102cf6037f6269a97a0b0934525","433f2249ac18a37117ea95f35c3df38cb65565fa91c36452ae5bce29e3bdaf85","5f41e72f253aaa17c3106551c537850fc7e6feb7b7825e20271b9d140a753ea1","7bbeee5e8f640d682f094d504148dd23b78cc63174f8c68f2b5afa57d8ae65e3","7eb1c064b3776019bf6e8b463d467334ed7df16ffb4686f49c93d622254bc5ae","98077200e1e6e5c9d54dd869b54cc95d2ac141f18bb97c9d8ac4edef0c7311f6","a6da4cd956ca5e15949aba29fdf5e522bce4ae415b4810acd725626fc59af18e","b8e0db68a3e60c1f7a09af22d0e3cfe260f29fc8670ee32300050f8c66399097","ba3233aace4c3624b2b168bee5d961f59e919e15e707b92add53a11bece382fe","cb89e65a3f1394f0f012001b403f3e1e2c97541a9885978e11cfcea0be79615c","dab42310236e19c9426905660f5cb27de758c66fb050f4a704b2bd390dcfcbd7","dbfe4aaaa75d2864bb35c7102807b34f5c900be434d935a7757944a025f062a1","ff9a762b4efaddd110c5cd7e706fe4412f23fe13bb64bab40cee4246d1a08eed"],"recordQualifiers":{},"scopeLabel":"OMIM:312920","sourceIds":["OMIM:312920"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010733/ORPHA:99015","label":"Spastic paraplegia type 2","mondoId":"MONDO:0010733","onsetQualifier":null,"recordKeys":["008983e117289bbb9a8fd888b12b2c9402f65f07b512903eea9d4810a0733a35","25e0664d615f21e8a83bad44c9981780ff012336489dcee7ebedb45314ee340d","266466328b65b4eae0a3f6e09261d6644e302477e799b717b8ff093d43efd512","34c90fe5b520a5ea9a85c388f5913afc77407b7281c1310f0d6af4c64f8c55a2","4417291d5f6b5b3e872f21c56378484f20caa726e60af77c1e045a2856ea871f","772f0765a64daf2694508312d62cfd5ee9d618a3ddc4f2bea4d0cf5a34e098d7","94d23c8318c646cf9b5d369199bc5a020e2827d233d392e64fc297fa7cce3829","9984011c3793331b9712bce47c07b9116de40b7fddc5ef4b68eb832c0f356ad3","a753afe7f4be913714fc80796ba33b376f365c5dd557595d800d1d2183601594","aa835747cef9046e94d1028c50550f69cc5da785f4995134672f082d7c3a9ea3","b0322bb1334d4da567442f632bb3a46ae7fcd5cb2b722a49898b8a67d49cb33a","b2dd899b8215aefa8e5a22d0de2e251a2caee931085bbbe5034c37b178ab7f2b","b4b29b7803fe7b04de7c15e1fdc200fdc05f02bfc7ce78cd3ed96153bc435df0","b805d474b575985e919b567f712c3306fd232499c88b2528296d34df04558669","b98ea39d1caa87eecfa6c9376d963dbccab8e5e77d2bd6e8a11fa91eefcfbfe6","bcb1f39126bc5218e167f86748ec11ebd90c0e03e84abfebbe561cb669f3d991","f0f8191dccb4ac85e7cf7e2d27c90f32072aeadde12e7689c46beba006b30cd4"],"recordQualifiers":{},"scopeLabel":"ORPHA:99015","sourceIds":["ORPHA:99015"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010733/OMIM:312920","MONDO:0010733/ORPHA:99015"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":3,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":36,"sourceGroups":{"omim":14,"orphanet":17,"published":5}},"features":[{"hpoId":"HP:0001317","label":"Abnormal cerebellum morphology","primary":false},{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0002607","label":"Bowel incontinence","primary":false},{"hpoId":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001310","label":"Dysmetria","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001376","label":"Limitation of joint mobility","primary":false},{"hpoId":"HP:0002505","label":"Loss of ambulation","primary":false},{"hpoId":"HP:0007340","label":"Lower limb muscle weakness","primary":false},{"hpoId":"HP:0002061","label":"Lower limb spasticity","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0002204","label":"Pulmonary embolism","primary":false},{"hpoId":"HP:0002205","label":"Recurrent respiratory infections","primary":false},{"hpoId":"HP:0000763","label":"Sensory neuropathy","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0002064","label":"Spastic gait","primary":false},{"hpoId":"HP:0001258","label":"Spastic paraplegia","primary":false},{"hpoId":"HP:0005340","label":"Spastic/hyperactive bladder","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0002503","label":"Spinocerebellar tract degeneration","primary":false}],"ledeHtml":"Spastic paraplegia type 2 belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness that worsens over time and paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure (also called uncomplicated) types only involve the legs. The complex (also called complicated) types involve the lower limbs and can also affect the upper limbs to a lesser degree. The complex type can also affect the structure or function of the brain. It can also affect the network of nerves (the peripheral nervous system) that connects the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.","mondoId":"MONDO:0010733","records":[{"frequencyKind":"range","key":"008983e117289bbb9a8fd888b12b2c9402f65f07b512903eea9d4810a0733a35","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"06d2464ea8fdb4cb9ac2c08d2cb6be40294eec43494589382cda7aad313d45d4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"118fe469f9717b518bd28cbc741a2a167116e9a8fbe3dce908d08c106dac18ba","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"13900298bab6fda776e7275a69b45af84ec488b6e305b09f85c20296b415c0b0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"PMID:8012387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"16081a9a68905033f715b4385400c28d4d61195db2d6d4b6bc2643a657f63865","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002503","is_excluded":false,"label":"Spinocerebellar tract degeneration","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"20b842ec4f10b3af382713d35007dff82b22939d76b86d367a540deb4766448a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"PMID:8012387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"25e0664d615f21e8a83bad44c9981780ff012336489dcee7ebedb45314ee340d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"266466328b65b4eae0a3f6e09261d6644e302477e799b717b8ff093d43efd512","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"28021920dcfb7bf8f8f67d50f9382e7ed783e67c0532fc8a107d4c799ec39365","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"PCS","frequency_raw":"5/11","hpo_id":"HP:0002505","is_excluded":false,"label":"Loss of ambulation","onset_id":null,"reference":"PMID:8012387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"34c90fe5b520a5ea9a85c388f5913afc77407b7281c1310f0d6af4c64f8c55a2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4192200a6a13a8895686691da6dc46a08ddc3102cf6037f6269a97a0b0934525","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"433f2249ac18a37117ea95f35c3df38cb65565fa91c36452ae5bce29e3bdaf85","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4417291d5f6b5b3e872f21c56378484f20caa726e60af77c1e045a2856ea871f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5f41e72f253aaa17c3106551c537850fc7e6feb7b7825e20271b9d140a753ea1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002061","is_excluded":false,"label":"Lower limb spasticity","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"772f0765a64daf2694508312d62cfd5ee9d618a3ddc4f2bea4d0cf5a34e098d7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7bbeee5e8f640d682f094d504148dd23b78cc63174f8c68f2b5afa57d8ae65e3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007340","is_excluded":false,"label":"Lower limb muscle weakness","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7eb1c064b3776019bf6e8b463d467334ed7df16ffb4686f49c93d622254bc5ae","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"94d23c8318c646cf9b5d369199bc5a020e2827d233d392e64fc297fa7cce3829","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005340","is_excluded":false,"label":"Spastic/hyperactive bladder","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"98077200e1e6e5c9d54dd869b54cc95d2ac141f18bb97c9d8ac4edef0c7311f6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9984011c3793331b9712bce47c07b9116de40b7fddc5ef4b68eb832c0f356ad3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a6da4cd956ca5e15949aba29fdf5e522bce4ae415b4810acd725626fc59af18e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002314","is_excluded":false,"label":"Degeneration of the lateral corticospinal tracts","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a753afe7f4be913714fc80796ba33b376f365c5dd557595d800d1d2183601594","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa835747cef9046e94d1028c50550f69cc5da785f4995134672f082d7c3a9ea3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000763","is_excluded":false,"label":"Sensory neuropathy","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b0322bb1334d4da567442f632bb3a46ae7fcd5cb2b722a49898b8a67d49cb33a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002607","is_excluded":false,"label":"Bowel incontinence","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2dd899b8215aefa8e5a22d0de2e251a2caee931085bbbe5034c37b178ab7f2b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4b29b7803fe7b04de7c15e1fdc200fdc05f02bfc7ce78cd3ed96153bc435df0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b805d474b575985e919b567f712c3306fd232499c88b2528296d34df04558669","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001376","is_excluded":false,"label":"Limitation of joint mobility","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b8e0db68a3e60c1f7a09af22d0e3cfe260f29fc8670ee32300050f8c66399097","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"PCS","frequency_raw":"10/11","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:8012387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b98ea39d1caa87eecfa6c9376d963dbccab8e5e77d2bd6e8a11fa91eefcfbfe6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ba3233aace4c3624b2b168bee5d961f59e919e15e707b92add53a11bece382fe","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bcb1f39126bc5218e167f86748ec11ebd90c0e03e84abfebbe561cb669f3d991","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002204","is_excluded":false,"label":"Pulmonary embolism","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cb89e65a3f1394f0f012001b403f3e1e2c97541a9885978e11cfcea0be79615c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"dab42310236e19c9426905660f5cb27de758c66fb050f4a704b2bd390dcfcbd7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"PCS","frequency_raw":"3/11","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"PMID:8012387","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dbfe4aaaa75d2864bb35c7102807b34f5c900be434d935a7757944a025f062a1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f0f8191dccb4ac85e7cf7e2d27c90f32072aeadde12e7689c46beba006b30cd4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:99015","disease_name":"Spastic paraplegia type 2","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:99015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ff9a762b4efaddd110c5cd7e706fe4412f23fe13bb64bab40cee4246d1a08eed","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:312920","disease_name":"Spastic paraplegia 2, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"OMIM:312920","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2\">Spastic paraplegia type 2</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the PLP1 gene cause spastic paraplegia type 2. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of that protein, called DM20. Proteolipid protein 1 and DM20 are primarily located in the brain and spinal cord (the central nervous system) and are the main proteins found in myelin, the fatty covering that insulates nerve fibers.</p><p>The variants in the PLP1 gene that cause spastic paraplegia type 2 cause cells to produce a smaller amount of functional proteolipid protein 1. These changes typically affect the production of proteolipid protein 1 but not DM20. As a result, the central nervous system is able to form some myelin, though it produces less myelin than normal (hypomyelination). People with HEMS typically have more severe hypomyelination than people with the pure type of spastic paraplegia type 2. If nerve fibers are not properly myelinated during development, the nervous system does not function as it should, resulting in the signs and symptoms of spastic paraplegia type 2.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spastic paraplegia type 2?"},{"bodyHtml":"<p>Spastic paraplegia type 2 can be classified as either pure or complex, depending on the signs and symptoms. The pure type of this condition is more common. The complex type of spastic paraplegia type 2 is sometimes called hypomyelination of early myelinating structures (HEMS).</p><p>People with the pure type of spastic paraplegia type 2 experience spasticity in the leg muscles. Over time, affected individuals may lose the ability to walk. Some affected individuals may also have poor bladder control. The signs and symptoms of spastic paraplegia type 2 usually appear between the ages of 1 and 5 years, but it can develop later in life. Individuals with spastic paraplegia type 2 typically have a normal lifespan.</p><p>In addition to leg spasticity and poor bladder control, people with HEMS can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); and involuntary, rhythmic shaking (tremor). They may also have mild intellectual disabilities and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. The signs and symptoms of HEMS also typically appear between the ages of 1 and 5 years. Individuals with HEMS usually survive into mid to late adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-2","sourceDocuments":[{"name":"Spastic paraplegia type 2","reviewed":"2025-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:06.991133+00:00","label":"Causes","pageSha256":"77e36e150013c908be11875bb7f4439d54e6b33e5ee907e48b4a1dfb6f5af9ab","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Spastic paraplegia type 2"},"schemaVersion":1}