{"Name":"GRACILE syndrome","DiseaseID__c":"GARD:0000001","id":1,"encodedName":"gracile-syndrome","IsDeleted":false,"Disease_Name_Full__c":"GRACILE syndrome","Xref_IDs__c":"703388005; C1864002; C537934; DOID:0111455; MEDGEN:400428; MONDO:0011308; OMIM:603358; ORPHA:53693","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011308","Disease_Description__c":"An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).","GARD_Name__c":"GRACILE syndrome","GARD_Synonym__c":"fellman disease; fellman syndrome; finnish lactic acidosis with hepatic hemosiderosis; finnish lethal neonatal metabolic syndrome; flnms; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death","Curated_Disease_Description_Source__c":"GARD:0000001","Curated_Disease_Description__c":"GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:53693","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011308","ORPHANET_ID__c":"ORPHA:53693","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome gracile","Spanish_Description_Source__c":"ORPHA:53693","Spanish_Description__c":"Es un trastorno mitocondrial letal hereditario caracterizado por restricción del crecimiento intrauterino (GR), aminoaciduria (A), colestasis (C), sobrecarga de hierro (I), lactacidosis (L) y muerte prematura (E).","Spanish_Disease_Name__c":"síndrome gracile","Spanish_GARD_Synonym__c":"enfermedad de fellman; síndrome de restricción del crecimiento-aminoaciduria-colestasis-sobrecarga de hierro-acidosis láctica-muerte prematura","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":"GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.","Curated_Disease_Description_Source__c":"GARD:0000001","GARD_Synonym__c":"fellman disease; fellman syndrome; finnish lactic acidosis with hepatic hemosiderosis; finnish lethal neonatal metabolic syndrome; flnms; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death","Name":"GRACILE syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:53693"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:53693"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864002"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000001","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/53693","Source__c":"C1864002; MONDO:0011308; ORPHA:53693","Xref__c":"ORPHA:53693"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400428","Source__c":"C1864002","Xref__c":"MEDGEN:400428"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111455","Source__c":"MONDO:0011308","Xref__c":"DOID:0111455"},{"URL__c":"https://www.omim.org/entry/603358","Source__c":"C1864002; MONDO:0011308; ORPHA:53693","Xref__c":"OMIM:603358"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864002","Source__c":"C1864002","Xref__c":"C1864002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537934","Source__c":"MONDO:0011308","Xref__c":"C537934"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703388005","Source__c":"C1864002; MONDO:0011308","Xref__c":"703388005"},{"URL__c":"https://medlineplus.gov/genetics/condition/gracile-syndrome","Source__c":"GARD:0000001","Xref__c":"https://medlineplus.gov/genetics/condition/gracile-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011308","Source__c":"GARD:0000001","Xref__c":"MONDO:0011308"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BCS1L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bcs1l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","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:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of iron in liver tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012465","HPO_Synonym__c":"Increased iron concentration in liver; Increased liver iron level","HPO_Name__c":"Elevated hepatic iron concentration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A below normal level of saturation of serum transferrin with iron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012464","HPO_Name__c":"Decreased transferrin saturation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53693","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001994","HPO_Synonym__c":"De toni-fanconi-debre syndrome; Renal tubular fanconi syndrome","HPO_Name__c":"Renal Fanconi syndrome","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Gastroenterology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["fellman disease"," fellman syndrome"," finnish lactic acidosis with hepatic hemosiderosis"," finnish lethal neonatal metabolic syndrome"," flnms"," growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"," growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"," growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death"]}