{"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:0014221/OMIM:615512","label":"Triosephosphate isomerase deficiency","mondoId":"MONDO:0014221","onsetQualifier":null,"recordKeys":["0b2e8812d119745c072b4df71ac65b2922cba7e9da205c0bc3cede6570139661","0dff7e8b3ca7bff4252193398f64504a8708ae1b93d2b594f231be38b8890efd","11b857a34af6e746569f97ba5243db32c6bd008b0122ab5aec5d918de99a4305","13927c311ad558a05c9f795b676fa00b08abf512b8a57f0c33bcc0691ae95624","13b44e627b063651cde078bdd408d728a7f5509a93b737a9e767ad92885d2640","18ba6e66c268052820ddeb2afd50ad032b2459b96e8b526b390269da3b1dade0","216892ecc1fa11e30579bfa6d7a42205edefa015364a15c2476dadc73d7f9ab1","234fe8680cc5041f01d7387af447c5d6fe12632c2ec8797d53a20f168c34137f","3a1da94c2fdc77c0b7446c96009002bafedb4378997c2dbbb218284f3f304039","40932990bc650d8937df75c9fb881640e1d4b8259cf3310e2ef876d540fe1bd8","486dbb324408255fdfc45cf2dfb2479667ce07471bca43e090bbb893dd8268b8","54a99d16f425958dfbf336310bbcd343087325cd3cc938d196dcf492f8a918c3","61400c2a9caaf0bdb9929d7a7e97732e17551f766a3ed23cd51320a9e6265d43","63199cc79151f8d7fcce5ab1c4d1adf5741e6b74942a6ffde5931f0531259f7b","642cd153e01bba58fc6d5d35652a9780799e871f974285f5777c34b0f3281865","6cca1e3ced37ae32e885c98d257bc2f360fddc46e971edeb2830b0802b334215","742b98f655283440b4f8a0fb128e4d430a3bbc5a274cd19b80ade1eb12845f73","7a916be76fe3bfa454bfb78181ef558a5de245389bb0abfa423ee5613719816b","7db8c3c83666382673455d181020cb9263c4fd38b8883803e66d55332e90b960","99be43b513b0b23dfc765a75a7b8b894f0f15200e9dc14e206ddf52bd4b1ea74","a6f467d307bfea939914ff9414d8e33e70a1db47939c929699d49d26d981832f","ae7cd85f228bf28080d7f2eb3e0f267e2e7bf88bc4f5a58b2825c9efe4ca0c0f","b38e46683bd8a78a597b7ac7a3ed0a3a1a21e56b94220d1cf091c78be8accde5","b9c1633f2ddf3da02215f7e3bbc53ccfaeeda93b188cdf5b2907c07b185e036b","bbc4d92ba22ae559a4dfdd1ea7502b61abe95209717264b212c914239ba77927","caabee035352ec15afe404a95c9edc66e816d09e8f3eee26120faf1d7619ac7e","cdc341a789dc8b206662d757e31e3dc140a537f815dce64b93e51faf779a0653","d5397ffb704ad959b7f561d9dffb37e5b0bbeb5282f4a5983ff33b422937816f","d9f46b93efc84375b8bda2436957faa5feef170fffdfd81d84dc18d881b17016","e1285f5b376a8679d02dcfc7ac77c5edf87d3baeefe22333fd0567fe13df5568","ec306ecb68fc6540269bf34cec56ce0285959d2ca0f8f5da8e50cdc0d1bc9831","f651be32411b2ca13d271fbe5f1f51232e79924f0674184b651ff73ab98257d6","fbfc710f063ed75db063a95cd1537f31ca7e2e2b94b9d39ac3afaaf631e86c85"],"recordQualifiers":{},"scopeLabel":"OMIM:615512","sourceIds":["OMIM:615512"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014221/ORPHA:868","label":"Triose phosphate-isomerase deficiency","mondoId":"MONDO:0014221","onsetQualifier":null,"recordKeys":["05c5db0ac7219a17a9424d5c4c668c76b0c7fc58cc15770e1b0b9f7c37f0d009","2d96ae8a6680b7a0364190c21cd0c72b88fdcc21b2a0e0681eb728f3979f5f8a","9c125d55ed99818e642abe454af321d2e44fcd4283984810dacfdd859fbccdb3","a66dca7452c11a68eb39be91ccdbfcb34bc1fab01afc4e0b31771bbdf1cacec2","cc7f375c27c0bff3e7611300295f95bd3c255339215760913b4c826404e39a94","e5ed5025401fd419b81c572c33e863b13a0237c63dba29f1ca6db4ecac2e3487","e73d935c0a06cf5e67f2dfd204b94667df4e3a0829f1203f7f9ccc18fa4b5aae"],"recordQualifiers":{},"scopeLabel":"ORPHA:868","sourceIds":["ORPHA:868"],"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:0014221/OMIM:615512","MONDO:0014221/ORPHA:868"],"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":10,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":40,"sourceGroups":{"omim":23,"orphanet":7,"published":10}},"features":[{"hpoId":"HP:0010978","label":"Abnormality of immune system physiology","primary":false},{"hpoId":"HP:0007009","label":"Central nervous system degeneration","primary":false},{"hpoId":"HP:0002059","label":"Cerebral atrophy","primary":false},{"hpoId":"HP:0001082","label":"Cholecystitis","primary":false},{"hpoId":"HP:0001081","label":"Cholelithiasis","primary":false},{"hpoId":"HP:0004870","label":"Chronic hemolytic anemia","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0000762","label":"Decreased nerve conduction velocity","primary":false},{"hpoId":"HP:0006597","label":"Diaphragmatic paralysis","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0000952","label":"Jaundice","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0001972","label":"Macrocytic anemia","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0003198","label":"Myopathy","primary":false},{"hpoId":"HP:0001895","label":"Normochromic anemia","primary":false},{"hpoId":"HP:0001897","label":"Normocytic anemia","primary":false},{"hpoId":"HP:0001562","label":"Oligohydramnios","primary":false},{"hpoId":"HP:0000543","label":"Optic disc pallor","primary":false},{"hpoId":"HP:0009830","label":"Peripheral neuropathy","primary":false},{"hpoId":"HP:0003323","label":"Progressive muscle weakness","primary":false},{"hpoId":"HP:0006579","label":"Prolonged neonatal jaundice","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0002093","label":"Respiratory insufficiency","primary":false},{"hpoId":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0002317","label":"Unsteady gait","primary":false}],"ledeHtml":"Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.","mondoId":"MONDO:0014221","records":[{"frequencyKind":"range","key":"05c5db0ac7219a17a9424d5c4c668c76b0c7fc58cc15770e1b0b9f7c37f0d009","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0b2e8812d119745c072b4df71ac65b2922cba7e9da205c0bc3cede6570139661","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0dff7e8b3ca7bff4252193398f64504a8708ae1b93d2b594f231be38b8890efd","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001081","is_excluded":false,"label":"Cholelithiasis","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"11b857a34af6e746569f97ba5243db32c6bd008b0122ab5aec5d918de99a4305","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002093","is_excluded":false,"label":"Respiratory insufficiency","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"13927c311ad558a05c9f795b676fa00b08abf512b8a57f0c33bcc0691ae95624","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"13b44e627b063651cde078bdd408d728a7f5509a93b737a9e767ad92885d2640","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"18ba6e66c268052820ddeb2afd50ad032b2459b96e8b526b390269da3b1dade0","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"216892ecc1fa11e30579bfa6d7a42205edefa015364a15c2476dadc73d7f9ab1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"234fe8680cc5041f01d7387af447c5d6fe12632c2ec8797d53a20f168c34137f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2d96ae8a6680b7a0364190c21cd0c72b88fdcc21b2a0e0681eb728f3979f5f8a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007009","is_excluded":false,"label":"Central nervous system degeneration","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3a1da94c2fdc77c0b7446c96009002bafedb4378997c2dbbb218284f3f304039","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001562","is_excluded":false,"label":"Oligohydramnios","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"40932990bc650d8937df75c9fb881640e1d4b8259cf3310e2ef876d540fe1bd8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000543","is_excluded":false,"label":"Optic disc pallor","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"486dbb324408255fdfc45cf2dfb2479667ce07471bca43e090bbb893dd8268b8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"54a99d16f425958dfbf336310bbcd343087325cd3cc938d196dcf492f8a918c3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"61400c2a9caaf0bdb9929d7a7e97732e17551f766a3ed23cd51320a9e6265d43","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"63199cc79151f8d7fcce5ab1c4d1adf5741e6b74942a6ffde5931f0531259f7b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001897","is_excluded":false,"label":"Normocytic anemia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"642cd153e01bba58fc6d5d35652a9780799e871f974285f5777c34b0f3281865","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0006579","is_excluded":false,"label":"Prolonged neonatal jaundice","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6cca1e3ced37ae32e885c98d257bc2f360fddc46e971edeb2830b0802b334215","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"742b98f655283440b4f8a0fb128e4d430a3bbc5a274cd19b80ade1eb12845f73","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001895","is_excluded":false,"label":"Normochromic anemia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7a916be76fe3bfa454bfb78181ef558a5de245389bb0abfa423ee5613719816b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002747","is_excluded":false,"label":"Respiratory insufficiency due to muscle weakness","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7db8c3c83666382673455d181020cb9263c4fd38b8883803e66d55332e90b960","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"99be43b513b0b23dfc765a75a7b8b894f0f15200e9dc14e206ddf52bd4b1ea74","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001082","is_excluded":false,"label":"Cholecystitis","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9c125d55ed99818e642abe454af321d2e44fcd4283984810dacfdd859fbccdb3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000762","is_excluded":false,"label":"Decreased nerve conduction velocity","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a66dca7452c11a68eb39be91ccdbfcb34bc1fab01afc4e0b31771bbdf1cacec2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a6f467d307bfea939914ff9414d8e33e70a1db47939c929699d49d26d981832f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003198","is_excluded":false,"label":"Myopathy","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ae7cd85f228bf28080d7f2eb3e0f267e2e7bf88bc4f5a58b2825c9efe4ca0c0f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b38e46683bd8a78a597b7ac7a3ed0a3a1a21e56b94220d1cf091c78be8accde5","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001972","is_excluded":false,"label":"Macrocytic anemia","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9c1633f2ddf3da02215f7e3bbc53ccfaeeda93b188cdf5b2907c07b185e036b","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bbc4d92ba22ae559a4dfdd1ea7502b61abe95209717264b212c914239ba77927","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0004870","is_excluded":false,"label":"Chronic hemolytic anemia","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"caabee035352ec15afe404a95c9edc66e816d09e8f3eee26120faf1d7619ac7e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cc7f375c27c0bff3e7611300295f95bd3c255339215760913b4c826404e39a94","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cdc341a789dc8b206662d757e31e3dc140a537f815dce64b93e51faf779a0653","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"PMID:20374271","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d5397ffb704ad959b7f561d9dffb37e5b0bbeb5282f4a5983ff33b422937816f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002317","is_excluded":false,"label":"Unsteady gait","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d9f46b93efc84375b8bda2436957faa5feef170fffdfd81d84dc18d881b17016","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e1285f5b376a8679d02dcfc7ac77c5edf87d3baeefe22333fd0567fe13df5568","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e5ed5025401fd419b81c572c33e863b13a0237c63dba29f1ca6db4ecac2e3487","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006597","is_excluded":false,"label":"Diaphragmatic paralysis","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e73d935c0a06cf5e67f2dfd204b94667df4e3a0829f1203f7f9ccc18fa4b5aae","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:868","disease_name":"Triose phosphate-isomerase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010978","is_excluded":false,"label":"Abnormality of immune system physiology","onset_id":null,"reference":"ORPHA:868","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ec306ecb68fc6540269bf34cec56ce0285959d2ca0f8f5da8e50cdc0d1bc9831","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f651be32411b2ca13d271fbe5f1f51232e79924f0674184b651ff73ab98257d6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fbfc710f063ed75db063a95cd1537f31ca7e2e2b94b9d39ac3afaaf631e86c85","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615512","disease_name":"Triosephosphate isomerase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003323","is_excluded":false,"label":"Progressive muscle weakness","onset_id":null,"reference":"OMIM:615512","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency\">Triosephosphate isomerase 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 TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy for cells.</p><p>TPI1 gene mutations lead to the production of unstable enzymes or enzymes with decreased activity. As a result, glycolysis is impaired and cells have a decreased supply of energy. Red blood cells depend solely on the breakdown of glucose for energy, and without functional glycolysis, red blood cells die earlier than normal. Cells with high energy demands, such as nerve cells in the brain, white blood cells, and heart (cardiac) muscle cells are also susceptible to cell death due to reduced energy caused by impaired glycolysis. Nerve cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected in people with triosephosphate isomerase deficiency.</p><p>Death of red and white blood cells, nerve cells in the brain, and cardiac muscle cells leads to the signs and symptoms of triosephosphate isomerase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Triosephosphate isomerase deficiency?"},{"bodyHtml":"<p>The anemia in this condition begins in infancy. Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes.</p><p>Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures.</p><p>Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure.</p><p>Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract.</p><p>People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"triosephosphate-isomerase-deficiency","sourceDocuments":[{"name":"Triosephosphate isomerase deficiency","reviewed":"2014-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:33.192612+00:00","label":"Causes","pageSha256":"6fe6de77512edf540fbc8200369f4e3fd564ea2b6dd6e73a3eb776db3e5499ee","sourceUrl":"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-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":"Triosephosphate isomerase deficiency"},"schemaVersion":1}