{"Name":"L-ferritin deficiency","DiseaseID__c":"GARD:0017748","id":17748,"encodedName":"l-ferritin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"L-ferritin deficiency","Xref_IDs__c":"1217208003; C3810090; MEDGEN:816420; MONDO:0014274; OMIM:615604; ORPHA:440731","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:440731","Disease_Description__c":"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.","GARD_Name__c":"L-ferritin deficiency","GARD_Synonym__c":"l-ferritin deficiency, autosomal dominant; l-ferritin deficiency, dominant and recessive; lftd; lftd - l-ferritin deficiency","Curated_Disease_Description_Source__c":"ORPHA:440731","Curated_Disease_Description__c":"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:440731","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014274","ORPHANET_ID__c":"ORPHA:440731","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de l-ferritina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de l-ferritina","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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 genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:440731","GARD_Synonym__c":"l-ferritin deficiency, autosomal dominant; l-ferritin deficiency, dominant and recessive; lftd; lftd - l-ferritin deficiency","Name":"L-ferritin deficiency","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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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":"Childhood","Provided_By__c":"ORPHA:440731"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/440731","Source__c":"C3810090; MONDO:0014274; ORPHA:440731","Xref__c":"ORPHA:440731"},{"URL__c":"https://www.omim.org/entry/615604","Source__c":"C3810090; MONDO:0014274; ORPHA:440731","Xref__c":"OMIM:615604"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810090","Source__c":"C3810090","Xref__c":"C3810090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816420","Source__c":"C3810090","Xref__c":"MEDGEN:816420"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014274","Source__c":"GARD:0017748","Xref__c":"MONDO:0014274"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217208003","Source__c":"C3810090","Xref__c":"1217208003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FTL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ftl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615604","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012343","HPO_Synonym__c":"Decreased plasma ferritin; Decreased serum ferritin; Low ferritin level; Reduced serum ferritin","HPO_Name__c":"Decreased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615604","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615604","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615604","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012452","HPO_Synonym__c":"Restless legs syndrome; Tachyathetosis","HPO_Name__c":"Restless legs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["l-ferritin deficiency, autosomal dominant"," l-ferritin deficiency, dominant and recessive"," lftd"," lftd - l-ferritin deficiency"]}