{"Name":"Deficiency of ribose-5-phosphate isomerase","DiseaseID__c":"GARD:0017747","id":17747,"encodedName":"deficiency-of-ribose-5-phosphate-isomerase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of ribose-5-phosphate isomerase","Xref_IDs__c":"124667004; C1291609; C563212; MEDGEN:220946; MONDO:0012073; OMIM:608611; ORPHA:440706","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012073","Disease_Description__c":"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.","GARD_Name__c":"Deficiency of ribose-5-phosphate isomerase","GARD_Synonym__c":"deficiency of phosphopentosisomerase; deficiency of phosphoriboisomerase; ribose 5-phosphate isomerase deficiency; ribose-5-p isomerase deficiency","Curated_Disease_Description_Source__c":"MONDO:0012073","Curated_Disease_Description__c":"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:440706","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012073","ORPHANET_ID__c":"ORPHA:440706","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de ribosa-5-p isomerasa","Spanish_Description_Source__c":"ORPHA:440706","Spanish_Description__c":"La deficiencia de ribosa-5-P isomerasa es un trastorno del metabolismo de la pentosa fosfato, hereditario y muy poco frecuente, caracterizado por leucoencefalopatía progresiva y niveles muy elevados de ribitol y D-arabitol en el cerebro y fluidos corporales. La presentación clínica incluye retraso psicomotor, epilepsia y regresión neurológica lenta de inicio en la infancia, con ataxia, espasticidad, atrofia óptica y neuropatía sensitivo-motora.","Spanish_Disease_Name__c":"deficiencia de ribosa-5-p isomerasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0012073","GARD_Synonym__c":"deficiency of phosphopentosisomerase; deficiency of phosphoriboisomerase; ribose 5-phosphate isomerase deficiency; ribose-5-p isomerase deficiency","Name":"Deficiency of ribose-5-phosphate isomerase","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":"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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:440706"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563212","Source__c":"MONDO:0012073","Xref__c":"C563212"},{"URL__c":"https://www.omim.org/entry/608611","Source__c":"C1291609; MONDO:0012073; ORPHA:440706","Xref__c":"OMIM:608611"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220946","Source__c":"C1291609","Xref__c":"MEDGEN:220946"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124667004","Source__c":"C1291609; MONDO:0012073","Xref__c":"124667004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291609","Source__c":"C1291609","Xref__c":"C1291609"},{"URL__c":"https://www.orpha.net/en/disease/detail/440706","Source__c":"C1291609; MONDO:0012073; ORPHA:440706","Xref__c":"ORPHA:440706"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012073","Source__c":"GARD:0017747","Xref__c":"MONDO:0012073"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPIA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410073","HPO_Synonym__c":"Increased level of ribose in cerebrospinal fluid; Increased level of ribose in CSF","HPO_Name__c":"Increased CSF ribose concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of D-threitol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410059","HPO_Name__c":"Increased level of D-threitol in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410070","HPO_Name__c":"Increased level of ribitol in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034894","HPO_Name__c":"Elevated brain polyol compounds by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410071","HPO_Synonym__c":"Increased level of ribitol in cerebrospinal fluid","HPO_Name__c":"Increased CSF ribitol concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410058","HPO_Synonym__c":"Increased level of D-threitol in cerebrospinal fluid; Increased level of D-threitol in CSF","HPO_Name__c":"Increased CSF D-threitol concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of ribose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410072","HPO_Name__c":"Increased level of ribose in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410075","HPO_Synonym__c":"Increased level of xylitol in cerebrospinal fluid; Increased level of xylitol in CSF","HPO_Name__c":"Increased CSF xylitol concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of ribitol in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025550","HPO_Synonym__c":"Increased circulating ribitol concentration; Increased level of ribitol in serum","HPO_Name__c":"Elevated circulating ribitol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410056","HPO_Synonym__c":"Decreased level of erythritol in cerebrospinal fluid","HPO_Name__c":"Decreased CSF erythritol concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002352","HPO_Name__c":"Leukoencephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"A decrease in the level of erythritol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410055","HPO_Name__c":"Decreased level of erythritol in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of xylitol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410074","HPO_Name__c":"Increased level of xylitol in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"An increase in the level of D-threitol in the plasma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410057","HPO_Name__c":"Increased level of D-threitol in plasma","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608611","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["deficiency of phosphopentosisomerase"," deficiency of phosphoriboisomerase"," ribose 5-phosphate isomerase deficiency"," ribose-5-p isomerase deficiency"]}