{"Name":"Galactosemia 4","DiseaseID__c":"GARD:0018005","id":18005,"encodedName":"galactosemia-4","IsDeleted":false,"Disease_Name_Full__c":"Galactosemia 4","Xref_IDs__c":"C5394377; DOID:0060969; MEDGEN:1718159; MONDO:0030105; OMIM:618881; ORPHA:570422","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:570422","Disease_Description__c":"A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.","GARD_Name__c":"Galactosemia 4","GARD_Synonym__c":"deficiency of galactose mutarotase; galac4; galactose mutarotase deficiency; galactosemia iv; galactosemia type 4; galm (galactose mutarotase) deficiency; galm deficiency","Curated_Disease_Description_Source__c":"ORPHA:570422","Curated_Disease_Description__c":"A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:570422","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0030105","ORPHANET_ID__c":"ORPHA:570422","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de galactosa mutarotasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de galactosa mutarotasa","Spanish_GARD_Synonym__c":"deficiencia de galm; galactosemia tipo 4","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 rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.","Curated_Disease_Description_Source__c":"ORPHA:570422","GARD_Synonym__c":"deficiency of galactose mutarotase; galac4; galactose mutarotase deficiency; galactosemia iv; galactosemia type 4; galm (galactose mutarotase) deficiency; galm deficiency","Name":"Galactosemia 4","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"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":"Infancy","Provided_By__c":"ORPHA:570422"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:570422"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1718159","Source__c":"C5394377","Xref__c":"MEDGEN:1718159"},{"URL__c":"https://www.omim.org/entry/618881","Source__c":"C5394377; MONDO:0030105; ORPHA:570422","Xref__c":"OMIM:618881"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5394377","Source__c":"C5394377","Xref__c":"C5394377"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060969","Source__c":"MONDO:0030105","Xref__c":"DOID:0060969"},{"URL__c":"https://www.orpha.net/en/disease/detail/570422","Source__c":"C5394377; MONDO:0030105; ORPHA:570422","Xref__c":"ORPHA:570422"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187616008","Source__c":"C5394377","Xref__c":"1187616008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0030105","Source__c":"GARD:0018005","Xref__c":"MONDO:0030105"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GALM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Uncommon (<1-4%)","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:570422","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevated concentration of galactose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012024","HPO_Name__c":"Hypergalactosemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:570422","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:570422","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:570422","HPO_Frequency__c":"Frequent (30-79%)","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:570422","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["deficiency of galactose mutarotase"," galac4"," galactose mutarotase deficiency"," galactosemia iv"," galactosemia type 4"," galm (galactose mutarotase) deficiency"," galm deficiency"]}