{"Name":"Triosephosphate isomerase deficiency","DiseaseID__c":"GARD:0005287","id":5287,"encodedName":"triosephosphate-isomerase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Triosephosphate isomerase deficiency","Xref_IDs__c":"234405009; C131652; C1860808; C566029; DOID:0050884; MEDGEN:349893; MONDO:0014221; OMIM:615512; ORPHA:868","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014221","Disease_Description__c":"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.","GARD_Name__c":"Triosephosphate isomerase deficiency","GARD_Synonym__c":"deficiency of phosphotriose isomerase; deficiency of triosephosphate mutase; hemolytic anaemia due to triosephosphate isomerase deficiency; hemolytic anemia due to triosephosphate isomerase deficiency; tpi - thiose phosphate isomerase deficiency; tpid; triose phosphate isomerase deficiency; triose phosphate-isomerase deficiency","Curated_Disease_Description_Source__c":"GARD:0005287","Curated_Disease_Description__c":"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. 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. 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. 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. 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. 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:868","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014221","ORPHANET_ID__c":"ORPHA:868","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de triosa fosfato-isomerasa","Spanish_Description_Source__c":"ORPHA:868","Spanish_Description__c":"El déficit de triosa fosfato isomerasa (TFI) es un trastorno grave multisistémico del metabolismo glucolítico, de herencia autosómica recesiva, que se caracteriza por anemia hemolítica y neurodegeración.","Spanish_Disease_Name__c":"deficiencia de triosa fosfato-isomerasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. 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. 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. 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. 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. 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.","Curated_Disease_Description_Source__c":"GARD:0005287","GARD_Synonym__c":"deficiency of phosphotriose isomerase; deficiency of triosephosphate mutase; hemolytic anaemia due to triosephosphate isomerase deficiency; hemolytic anemia due to triosephosphate isomerase deficiency; tpi - thiose phosphate isomerase deficiency; tpid; triose phosphate isomerase deficiency; triose phosphate-isomerase deficiency","Name":"Triosephosphate isomerase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:868"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1860808"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005287","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050884","Source__c":"MONDO:0014221","Xref__c":"DOID:0050884"},{"URL__c":"https://www.omim.org/entry/615512","Source__c":"C1860808; MONDO:0014221; ORPHA:868","Xref__c":"OMIM:615512"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349893","Source__c":"C1860808","Xref__c":"MEDGEN:349893"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234405009","Source__c":"C1860808; MONDO:0014221","Xref__c":"234405009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566029","Source__c":"MONDO:0014221","Xref__c":"C566029"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131652","Source__c":"C1860808; MONDO:0014221","Xref__c":"C131652"},{"URL__c":"https://www.orpha.net/en/disease/detail/868","Source__c":"C1860808; MONDO:0014221","Xref__c":"ORPHA:868"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860808","Source__c":"C1860808","Xref__c":"C1860808"},{"URL__c":"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency","Source__c":"GARD:0005287","Xref__c":"https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014221","Source__c":"GARD:0005287","Xref__c":"MONDO:0014221"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TPI1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tpi1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a paralyzed diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006597","HPO_Synonym__c":"Diaphragmatic paralysis; Paralyzed diaphragm","HPO_Name__c":"Diaphragmatic paralysis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007009","HPO_Synonym__c":"CNS degeneration","HPO_Name__c":"Central nervous system degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:868","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Hematology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["deficiency of phosphotriose isomerase"," deficiency of triosephosphate mutase"," hemolytic anaemia due to triosephosphate isomerase deficiency"," hemolytic anemia due to triosephosphate isomerase deficiency"," tpi - thiose phosphate isomerase deficiency"," tpid"," triose phosphate isomerase deficiency"," triose phosphate-isomerase deficiency"]}