{"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:0010188/OMIM:277460","label":"Ataxia with isolated vitamin E deficiency","mondoId":"MONDO:0010188","onsetQualifier":null,"recordKeys":["0eb5d2137f77296d4ba2d370681bdfc1feada611cce5c9dc9d400cb9b0a04319","14c188a3ad1a162cbb38377076333854b86f4909009bbfd59738506c257934e6","2b29aeadb7bcdbdf853a38fd0f4b55843c9e51d80287461ea6287af87d4869ac","370a2b5080d2a0e50015898610f0c21daecc5de37fddfb8c24069250e4d82f66","3d10055ec02167cd11e6f916deb89e73d050dd757a735d2bb1ecf6f5bd78b567","5823aec8ff38129ff397b75c7c066e984a3d442fe47e801c9663c0d09ea2511e","676782c2fd2ef8c33cff7e6058c89c8c43c64d57fef1c17895c38ad2308344cf","6c0b629bc875210e24e7a2ba2d0ff76a0fa66a46ae93c26d8c1b72b6b047c6bf","7398f13ea58dc13944bc04aade28ce3d4cb33e87de56d34e24a956cd100578c8","74302f0b5d05ea70c4a773a9121fdb4704dd3cc2ae5f21d11f847599c7b51f21","7cc709ce0a625b9b14f83d13b00e50f050dc92d8e9a46ef1939b38f284f5b93c","93f61cb0c143a5c5e1afd8fdba9bca90ac0e50744d32ba2d1572d2cb44e1c09e","b11b42946e11d876c7eecd6a6c1b70cba67cfd41e96c66354efd0847498445d9","c59207d28bfbabec5ca92c36e42dc3384ef14d33b94827f79ecd8915082a614e","caefd78d9cc3e3ee6d223a679e55fd33a518c4ff745b6c9e1a557a8f932ed554","d63cf058c06ff688d7371d579b1f76e80bab0cfce1b2e01ec4a68eb1c223eb52","d866ff488c8a8e4b087270b430b39ee9b7b30615176152d2e50ef7860ae21506","e68c6d75eba2bb96d3c44807b0e00eaad0444b20b345c6fb9dbe4aa49be2bd98","e875b0078fbb02f580becbdb60c1283276cbd7eecd9c5521666c5154a1abe097","f76b2d209ba80ef9feeae56c8b0604cd4ee0155734de16290a9644e624f88ee4","f81a83e8da25f651a7df2900f3fa5a0d1dcba78730df4ee95f9c24d0c3588c2b"],"recordQualifiers":{},"scopeLabel":"OMIM:277460","sourceIds":["OMIM:277460"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010188/ORPHA:96","label":"Ataxia with vitamin E deficiency","mondoId":"MONDO:0010188","onsetQualifier":null,"recordKeys":["0169a847d025b87679e42d511e0073c2fc358762d46bed7294cc765fe177542e","095e1274deb26d58097550d1a8e7705bb2c836d8dc0fc38496a896ccb4fe8934","0980888cb795a4cca3eda2ff061d241be21298cda7c4cf56a8fb8ab1a44174f1","0b3a396405010a061e86458538bcf2c6a648f5cc2c4cf6395d0d40237ed8662f","188c5d1ae4797eee6bddc8f9db434e26a405d162c507c45ef5b3ff8440a7433d","190f758eac65ff42ae7d4db840c234c259ab6a8fbd887d5aa7494eed207e968e","1e6159ea2ede556d7681f87d026f1376db112e9eb5d401bd2a18626cd75eb280","28b1fe52eaf5344a77b6f5e5148ea4c87fd34594e8adf427909ffc4354835421","56d25c47548e2951ae838950e35bf5ac56da600143c7fb3b6a6088d09dadb65e","588e3565e695aefb25af2cad2876f0ad99eedba082fc8b7585c4b254107ff2b8","64e79d0647a443f6cac145874d85f8054b98c38946c465b46e47fe4725a7c3d7","69df41adca91460673ad9dd21c310c7d2aa6e862b0c4e4be1392f165488bc431","6acb11b658c2d8c35b9f1c7056613af0d080b741c6b22dee2d14810c58f1eddc","6c89abd930ac2a1a5d2f0cc99da653ae4adda6ee73955789801d1cab504957ef","72b870362711884e42dea59a5a4a67fb8ad675c86b7b9499183758c001875102","7309a9b7da21f479c6236efdfb41bd22aa68123fc14445cc52f3bf872c5a79c9","76ffb58cda1fdbc807d7d9e93c97292f5736dbdb18622f80e966aae79e19e951","7801f0a23635cddd0bf3b31b4e5241c2c553135437714a41773a0d4d2e4369fc","903a8aadfe03dfa6ee4fcb2d21aaa1405b3131db1d07a5cd1c8d7d5512665e4f","984e1fa543e8be7ff651f9ee7aa78fece0d52782265cf27b97691ae8dabce8ba","a7a13e1f1949a1607ca5b86ee4c5bbbd81032d8e14eae58d3c25edb38fef5590","a81d50404bdece6e99c20d307d9273939a095a4911d8d610f4146755d04f2667","be59b41d007a2250fe2c6d2e68e07b04ac3bd03528affc2a53cf5991636780f6","c34ccf4facb8d440a3d7aa17ebebe15d70b24d701348f31369faa2104679670b","c445d9be4bfa748add7865ceeef4f9af7006b1782b75b21f7cb1df103ccf3cca","c5cd827c37416d4e3e99835fae83247eeecd60520d60d397a3b08632cef66da6","c6a712cfd7ddb60fd7cd58ee7fee015fbf051ace32008782c429cf1fa69b478e","c917142503b0206e5e13bec0576c8a47bf212954d36af1eccfca73c35bd41076","cf9fab9f40beafca9fc2686e9b70f4b6eef21e028b4586813b2e2ad8a0d8bbf7","d50e3636b0119d0a863417e05972b856221a79063e89b5842f63a65a66d513d0","d6d69c66786d8cb1a980a58b78296e2953018163d890a632f0f46c9ab500018b","e12654bec6d2fba7282caa29f8de112cff6aed96e8c8e85306bc48ec6f9afb09","eaab75fb2121d1aca6805205355fc180e773c64bc488b22de2f977f6dffd3e7d","eda229bbe377b941ef55f9bd784526e15d90e2631027c2c8bf8eecb1aa7e5481","f10fe1c063993595a7afa671a4dd489a2dd8b57ee5b4548eabe99ab541fdb919","f19d54340eb0019328780aa9b85ab71df8a59c176038a327f149c53f0bf2c2f7","f80e3faa41505c06b18e853b710946e8d4b0ea5d9c0e1344012e6bd322c9899f"],"recordQualifiers":{},"scopeLabel":"ORPHA:96","sourceIds":["ORPHA:96"],"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:0010188/OMIM:277460","MONDO:0010188/ORPHA:96"],"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":15,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":58,"sourceGroups":{"omim":6,"orphanet":37,"published":15}},"features":[{"hpoId":"HP:0007256","label":"Abnormal pyramidal sign","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0002167","label":"Abnormal speech pattern","primary":false},{"hpoId":"HP:0000649","label":"Abnormality of visual evoked potentials","primary":false},{"hpoId":"HP:0001284","label":"Areflexia","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0002312","label":"Clumsiness","primary":false},{"hpoId":"HP:0100513","label":"Decreased circulating vitamin E concentration","primary":false},{"hpoId":"HP:0100291","label":"Delayed somatosensory central conduction time","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0000819","label":"Diabetes mellitus","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002075","label":"Dysdiadochokinesis","primary":false},{"hpoId":"HP:0001310","label":"Dysmetria","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0003141","label":"Elevated circulating LDL-C concentration","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002599","label":"Head titubation","primary":false},{"hpoId":"HP:0004374","label":"Hemiplegia/hemiparesis","primary":false},{"hpoId":"HP:0003124","label":"Hypercholesterolemia","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0002155","label":"Hypertriglyceridemia","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0010831","label":"Impaired proprioception","primary":false},{"hpoId":"HP:0001268","label":"Decline in thinking abilities","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0000662","label":"Nyctalopia","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0009830","label":"Peripheral neuropathy","primary":false},{"hpoId":"HP:0030223","label":"Perseverative thought","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0000580","label":"Pigmentary retinopathy","primary":false},{"hpoId":"HP:0002403","label":"Positive Romberg sign","primary":false},{"hpoId":"HP:0002073","label":"Progressive cerebellar ataxia","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0000763","label":"Sensory neuropathy","primary":false},{"hpoId":"HP:0033687","label":"Short term memory impairment","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0010874","label":"Tendon xanthomatosis","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0000012","label":"Urinary urgency","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0001114","label":"Xanthelasma","primary":false}],"ledeHtml":"Ataxia with vitamin E deficiency is a disorder that impairs the body&#x27;s ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.","mondoId":"MONDO:0010188","records":[{"frequencyKind":"range","key":"0169a847d025b87679e42d511e0073c2fc358762d46bed7294cc765fe177542e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"095e1274deb26d58097550d1a8e7705bb2c836d8dc0fc38496a896ccb4fe8934","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001284","is_excluded":false,"label":"Areflexia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0980888cb795a4cca3eda2ff061d241be21298cda7c4cf56a8fb8ab1a44174f1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b3a396405010a061e86458538bcf2c6a648f5cc2c4cf6395d0d40237ed8662f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0eb5d2137f77296d4ba2d370681bdfc1feada611cce5c9dc9d400cb9b0a04319","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002155","is_excluded":false,"label":"Hypertriglyceridemia","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"14c188a3ad1a162cbb38377076333854b86f4909009bbfd59738506c257934e6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"PMID:12470185","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"188c5d1ae4797eee6bddc8f9db434e26a405d162c507c45ef5b3ff8440a7433d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"190f758eac65ff42ae7d4db840c234c259ab6a8fbd887d5aa7494eed207e968e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1e6159ea2ede556d7681f87d026f1376db112e9eb5d401bd2a18626cd75eb280","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000662","is_excluded":false,"label":"Nyctalopia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28b1fe52eaf5344a77b6f5e5148ea4c87fd34594e8adf427909ffc4354835421","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2b29aeadb7bcdbdf853a38fd0f4b55843c9e51d80287461ea6287af87d4869ac","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0100513","is_excluded":false,"label":"Decreased circulating vitamin E concentration","onset_id":null,"reference":"PMID:12470185;PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"370a2b5080d2a0e50015898610f0c21daecc5de37fddfb8c24069250e4d82f66","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033687","is_excluded":false,"label":"Short term memory impairment","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3d10055ec02167cd11e6f916deb89e73d050dd757a735d2bb1ecf6f5bd78b567","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002312","is_excluded":false,"label":"Clumsiness","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"56d25c47548e2951ae838950e35bf5ac56da600143c7fb3b6a6088d09dadb65e","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000819","is_excluded":false,"label":"Diabetes mellitus","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5823aec8ff38129ff397b75c7c066e984a3d442fe47e801c9663c0d09ea2511e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"PMID:12470185","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"588e3565e695aefb25af2cad2876f0ad99eedba082fc8b7585c4b254107ff2b8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"64e79d0647a443f6cac145874d85f8054b98c38946c465b46e47fe4725a7c3d7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007256","is_excluded":false,"label":"Abnormal pyramidal sign","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"676782c2fd2ef8c33cff7e6058c89c8c43c64d57fef1c17895c38ad2308344cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"69df41adca91460673ad9dd21c310c7d2aa6e862b0c4e4be1392f165488bc431","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010831","is_excluded":false,"label":"Impaired proprioception","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6acb11b658c2d8c35b9f1c7056613af0d080b741c6b22dee2d14810c58f1eddc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002167","is_excluded":false,"label":"Abnormal speech pattern","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c0b629bc875210e24e7a2ba2d0ff76a0fa66a46ae93c26d8c1b72b6b047c6bf","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001114","is_excluded":false,"label":"Xanthelasma","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6c89abd930ac2a1a5d2f0cc99da653ae4adda6ee73955789801d1cab504957ef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"72b870362711884e42dea59a5a4a67fb8ad675c86b7b9499183758c001875102","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000580","is_excluded":false,"label":"Pigmentary retinopathy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7309a9b7da21f479c6236efdfb41bd22aa68123fc14445cc52f3bf872c5a79c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7398f13ea58dc13944bc04aade28ce3d4cb33e87de56d34e24a956cd100578c8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010874","is_excluded":false,"label":"Tendon xanthomatosis","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"74302f0b5d05ea70c4a773a9121fdb4704dd3cc2ae5f21d11f847599c7b51f21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001284","is_excluded":false,"label":"Areflexia","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"76ffb58cda1fdbc807d7d9e93c97292f5736dbdb18622f80e966aae79e19e951","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100513","is_excluded":false,"label":"Decreased circulating vitamin E concentration","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7801f0a23635cddd0bf3b31b4e5241c2c553135437714a41773a0d4d2e4369fc","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7cc709ce0a625b9b14f83d13b00e50f050dc92d8e9a46ef1939b38f284f5b93c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0100291","is_excluded":false,"label":"Delayed somatosensory central conduction time","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"903a8aadfe03dfa6ee4fcb2d21aaa1405b3131db1d07a5cd1c8d7d5512665e4f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"93f61cb0c143a5c5e1afd8fdba9bca90ac0e50744d32ba2d1572d2cb44e1c09e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"984e1fa543e8be7ff651f9ee7aa78fece0d52782265cf27b97691ae8dabce8ba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002599","is_excluded":false,"label":"Head titubation","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7a13e1f1949a1607ca5b86ee4c5bbbd81032d8e14eae58d3c25edb38fef5590","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a81d50404bdece6e99c20d307d9273939a095a4911d8d610f4146755d04f2667","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b11b42946e11d876c7eecd6a6c1b70cba67cfd41e96c66354efd0847498445d9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002075","is_excluded":false,"label":"Dysdiadochokinesis","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"be59b41d007a2250fe2c6d2e68e07b04ac3bd03528affc2a53cf5991636780f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002403","is_excluded":false,"label":"Positive Romberg sign","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c34ccf4facb8d440a3d7aa17ebebe15d70b24d701348f31369faa2104679670b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c445d9be4bfa748add7865ceeef4f9af7006b1782b75b21f7cb1df103ccf3cca","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000012","is_excluded":false,"label":"Urinary urgency","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c59207d28bfbabec5ca92c36e42dc3384ef14d33b94827f79ecd8915082a614e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002403","is_excluded":false,"label":"Positive Romberg sign","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c5cd827c37416d4e3e99835fae83247eeecd60520d60d397a3b08632cef66da6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c6a712cfd7ddb60fd7cd58ee7fee015fbf051ace32008782c429cf1fa69b478e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c917142503b0206e5e13bec0576c8a47bf212954d36af1eccfca73c35bd41076","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"caefd78d9cc3e3ee6d223a679e55fd33a518c4ff745b6c9e1a557a8f932ed554","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cf9fab9f40beafca9fc2686e9b70f4b6eef21e028b4586813b2e2ad8a0d8bbf7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002312","is_excluded":false,"label":"Clumsiness","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d50e3636b0119d0a863417e05972b856221a79063e89b5842f63a65a66d513d0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004374","is_excluded":false,"label":"Hemiplegia/hemiparesis","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d63cf058c06ff688d7371d579b1f76e80bab0cfce1b2e01ec4a68eb1c223eb52","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030223","is_excluded":false,"label":"Perseverative thought","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d6d69c66786d8cb1a980a58b78296e2953018163d890a632f0f46c9ab500018b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002075","is_excluded":false,"label":"Dysdiadochokinesis","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d866ff488c8a8e4b087270b430b39ee9b7b30615176152d2e50ef7860ae21506","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003141","is_excluded":false,"label":"Elevated circulating LDL-C concentration","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e12654bec6d2fba7282caa29f8de112cff6aed96e8c8e85306bc48ec6f9afb09","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000649","is_excluded":false,"label":"Abnormality of visual evoked potentials","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e68c6d75eba2bb96d3c44807b0e00eaad0444b20b345c6fb9dbe4aa49be2bd98","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e875b0078fbb02f580becbdb60c1283276cbd7eecd9c5521666c5154a1abe097","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010831","is_excluded":false,"label":"Impaired proprioception","onset_id":null,"reference":"PMID:9931538","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eaab75fb2121d1aca6805205355fc180e773c64bc488b22de2f977f6dffd3e7d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eda229bbe377b941ef55f9bd784526e15d90e2631027c2c8bf8eecb1aa7e5481","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000763","is_excluded":false,"label":"Sensory neuropathy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f10fe1c063993595a7afa671a4dd489a2dd8b57ee5b4548eabe99ab541fdb919","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f19d54340eb0019328780aa9b85ab71df8a59c176038a327f149c53f0bf2c2f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f76b2d209ba80ef9feeae56c8b0604cd4ee0155734de16290a9644e624f88ee4","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003124","is_excluded":false,"label":"Hypercholesterolemia","onset_id":null,"reference":"OMIM:277460","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f80e3faa41505c06b18e853b710946e8d4b0ea5d9c0e1344012e6bd322c9899f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:96","disease_name":"Ataxia with vitamin E deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"ORPHA:96","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f81a83e8da25f651a7df2900f3fa5a0d1dcba78730df4ee95f9c24d0c3588c2b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:277460","disease_name":"Ataxia with isolated vitamin E deficiency","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002073","is_excluded":false,"label":"Progressive cerebellar ataxia","onset_id":null,"reference":"PMID:12470185","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency\">Ataxia with vitamin E deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the α-tocopherol transfer protein (αTTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. Vitamin E helps cells prevent damage that might be done by free radicals.</p><p>TTPA gene mutations impair the activity of the αTTP protein, resulting in an inability to retain and use dietary vitamin E. As a result, vitamin E levels in the blood are greatly reduced and free radicals accumulate within cells. Nerve cells (neurons) in the brain and spinal cord (central nervous system) are particularly vulnerable to the damaging effects of free radicals and these cells die off when they are deprived of vitamin E. Nerve cell damage can lead to problems with movement and other features of ataxia with vitamin E deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ataxia with vitamin E deficiency?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ataxia-with-vitamin-e-deficiency","sourceDocuments":[{"name":"Ataxia with vitamin E deficiency","reviewed":"2008-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:33.413464+00:00","label":"Causes","pageSha256":"091ab48eeb65c25b551df34fe1391bc7f2d058373599b3f5db47cf66682b10fd","sourceUrl":"https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency"}],"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":"Ataxia with vitamin E deficiency"},"schemaVersion":1}