{"Name":"Hypotonia-failure to thrive-microcephaly syndrome","DiseaseID__c":"GARD:0016725","id":16725,"encodedName":"hypotonia-failure-to-thrive-microcephaly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypotonia-failure to thrive-microcephaly syndrome","Xref_IDs__c":"717185008; C3279662; C565439; MEDGEN:481292; MONDO:0013539; OMIM:614037; ORPHA:79507","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013539","Disease_Description__c":"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.","GARD_Name__c":"Hypotonia-failure to thrive-microcephaly syndrome","GARD_Synonym__c":"deficiency of leukotriene c4 synthase; hypotonia with failure to thrive and microcephaly syndrome; leukotriene c4 synthase deficiency; ltc4 synthase deficiency","Curated_Disease_Description_Source__c":"MONDO:0013539","Curated_Disease_Description__c":"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79507","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013539","ORPHANET_ID__c":"ORPHA:79507","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipotonía-falta de crecimiento-microcefalia","Spanish_Description_Source__c":"ORPHA:79507","Spanish_Description__c":"El déficit de leucotrieno C4 sintasa es un trastorno letal del desarrollo neurometabólico extremadamente poco frecuente que se caracteriza clínicamente por hipotonía muscular, retraso psicomotor, retraso en el desarrollo, y microcefalia.","Spanish_Disease_Name__c":"síndrome de hipotonía-falta de crecimiento-microcefalia","Spanish_GARD_Synonym__c":"deficiencia de leucotrieno c4 (ltc4) sintetasa; deficiencia de leucotrieno c4 sintasa (ltc4s)","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":"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.","Curated_Disease_Description_Source__c":"MONDO:0013539","GARD_Synonym__c":"deficiency of leukotriene c4 synthase; hypotonia with failure to thrive and microcephaly syndrome; leukotriene c4 synthase deficiency; ltc4 synthase deficiency","Name":"Hypotonia-failure to thrive-microcephaly 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79507"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79507"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717185008","Source__c":"C3279662; MONDO:0013539","Xref__c":"717185008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3279662","Source__c":"C3279662","Xref__c":"C3279662"},{"URL__c":"https://www.orpha.net/en/disease/detail/79507","Source__c":"C3279662; MONDO:0013539; ORPHA:79507","Xref__c":"ORPHA:79507"},{"URL__c":"https://www.omim.org/entry/614037","Source__c":"C3279662; MONDO:0013539; ORPHA:79507","Xref__c":"OMIM:614037"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565439","Source__c":"MONDO:0013539","Xref__c":"C565439"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481292","Source__c":"C3279662","Xref__c":"MEDGEN:481292"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013539","Source__c":"GARD:0016725","Xref__c":"MONDO:0013539"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LTC4S","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614037","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614037","Feature__r":{"HPO_Description__c":"An abnormally decreased concentration of leukotriene C4 in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030390","HPO_Name__c":"Reduced circulating leukotriene C4 concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614037","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":"OMIM:614037","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614037","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["deficiency of leukotriene c4 synthase"," hypotonia with failure to thrive and microcephaly syndrome"," leukotriene c4 synthase deficiency"," ltc4 synthase deficiency"]}