{"Name":"UDPglucose-4-epimerase deficiency","DiseaseID__c":"GARD:0005392","id":5392,"encodedName":"udpglucose-4-epimerase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"UDPglucose-4-epimerase deficiency","Xref_IDs__c":"8849004; C0751161; DOID:0111458; MEDGEN:199598; MONDO:0009257; OMIM:230350; ORPHA:79238","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009257","Disease_Description__c":"A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.","GARD_Name__c":"UDPglucose-4-epimerase deficiency","GARD_Synonym__c":"epimerase deficiency; epimerase deficiency galactosemia; galactose epimerase deficiency; galactosemia - epimerase deficiency; galactosemia iii; galactosemia type 3; gale (udp-galactose-4-epimerase) deficiency; gale deficiency; gale-d; udp (uridine diphosphate) galactose-4-epimerase deficiency; udp (uridine diphosphate) glucose-4-epimerase deficiency; udp-galactose-4-epimerase deficiency; udpglucose 4-epimerase deficiency disease; uridine diphosphate galactose-4 epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency; uridine diphosphate glucose-4-epimerase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009257","Curated_Disease_Description__c":"A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79238","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009257","ORPHANET_ID__c":"ORPHA:79238","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de galactosa epimerasa","Spanish_Description_Source__c":"ORPHA:79238","Spanish_Description__c":"Es una forma muy rara, entre moderada y grave, de galactosemia caracterizada por signos de moderados a graves de de las alteraciones en el metabolismo de la galactosa.","Spanish_Disease_Name__c":"deficiencia de galactosa epimerasa","Spanish_GARD_Synonym__c":"deficiencia de gale; deficiencia de udp-galactosa-4-epimerasa; deficiencia de uridina difosfato galactosa-4-epimerasa; galactosemia por deficiencia de epimerasa; galactosemia tipo 3; gale-d","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":"A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.","Curated_Disease_Description_Source__c":"MONDO:0009257","GARD_Synonym__c":"epimerase deficiency; epimerase deficiency galactosemia; galactose epimerase deficiency; galactosemia - epimerase deficiency; galactosemia iii; galactosemia type 3; gale (udp-galactose-4-epimerase) deficiency; gale deficiency; gale-d; udp (uridine diphosphate) galactose-4-epimerase deficiency; udp (uridine diphosphate) glucose-4-epimerase deficiency; udp-galactose-4-epimerase deficiency; udpglucose 4-epimerase deficiency disease; uridine diphosphate galactose-4 epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency; uridine diphosphate glucose-4-epimerase deficiency","Name":"UDPglucose-4-epimerase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Galactosemia Foundation","Website__c":"https://www.galactosemia.org/"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79238"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79238"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALE"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK51671","Source__c":"Gene Review","Xref__c":"NBK51671"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751161","Source__c":"C0751161","Xref__c":"C0751161"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111458","Source__c":"MONDO:0009257","Xref__c":"DOID:0111458"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=199598","Source__c":"C0751161","Xref__c":"MEDGEN:199598"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8849004","Source__c":"C0751161; MONDO:0009257","Xref__c":"8849004"},{"URL__c":"https://www.omim.org/entry/230350","Source__c":"C0751161; MONDO:0009257; ORPHA:79238","Xref__c":"OMIM:230350"},{"URL__c":"https://www.orpha.net/en/disease/detail/79238","Source__c":"C0751161; MONDO:0009257; ORPHA:79238","Xref__c":"ORPHA:79238"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009257","Source__c":"GARD:0005392","Xref__c":"MONDO:0009257"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GALE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gale","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","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":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","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:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of galactose metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004915","HPO_Synonym__c":"Impaired galactose metabolism","HPO_Name__c":"Impairment of galactose metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Gastroenterology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["epimerase deficiency"," epimerase deficiency galactosemia"," galactose epimerase deficiency"," galactosemia - epimerase deficiency"," galactosemia iii"," galactosemia type 3"," gale (udp-galactose-4-epimerase) deficiency"," gale deficiency"," gale-d"," udp (uridine diphosphate) galactose-4-epimerase deficiency"," udp (uridine diphosphate) glucose-4-epimerase deficiency"," udp-galactose-4-epimerase deficiency"," udpglucose 4-epimerase deficiency disease"," uridine diphosphate galactose-4 epimerase deficiency"," uridine diphosphate galactose-4-epimerase deficiency"," uridine diphosphate glucose-4-epimerase deficiency"]}