{"Name":"Imerslund-Grasbeck syndrome","DiseaseID__c":"GARD:0007006","id":7006,"encodedName":"imerslund-grasbeck-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Imerslund-Grasbeck syndrome","Xref_IDs__c":"360495000; C131677; C4551825; C538556; MEDGEN:1640347; MONDO:0009853; OMIMPS:261100; ORPHA:35858","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":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009853","Disease_Description__c":"Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.","GARD_Name__c":"Imerslund-Grasbeck syndrome","GARD_Synonym__c":"enterocyte cobalamin malabsorption; enterocyte intrinsic factor receptor, defect of; familial megaloblastic anaemia; familial megaloblastic anemia; imerslund disease; imerslund-grasbeck anemia; imerslund-grasbeck disease; imerslund-gräsbeck syndrome; imerslund-najman-grasbeck syndrome; imerslund's syndrome; juvenile megaloblastic anaemia; juvenile megaloblastic anemia; megaloblastic anemia due to inborn errors of metabolism; pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria; selective cobalamin malabsorption with proteinuria; selective malabsorption of cyanocobalamin; vitamin b12 deficiency anemia due to selective malabsorption of cyanocobalamin","Curated_Disease_Description_Source__c":"GARD:0007006","Curated_Disease_Description__c":"Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function. Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:35858","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009853","ORPHANET_ID__c":"ORPHA:35858","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de imerslund-gräsbeck","Spanish_Description_Source__c":"ORPHA:35858","Spanish_Description__c":"El síndrome de Imerslund-Grasbeck (del inglés, IGS) o la malabsorción selectiva de vitamina B12 (cobalamina) con proteinuria es un trastorno autosómico recesivo raro. Se caracteriza por la deficiencia de vitamina B12 produciendo generalmente una anemia megaloblástica, que responde a la terapia parenteral de vitamina B12 y aparece durante la infancia.","Spanish_Disease_Name__c":"síndrome de imerslund-gräsbeck","Spanish_GARD_Synonym__c":"anemia megaloblástica familiar; malabsorción selectiva de cobalamina con proteinuria","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":"Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function. Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).","Curated_Disease_Description_Source__c":"GARD:0007006","GARD_Synonym__c":"enterocyte cobalamin malabsorption; enterocyte intrinsic factor receptor, defect of; familial megaloblastic anaemia; familial megaloblastic anemia; imerslund disease; imerslund-grasbeck anemia; imerslund-grasbeck disease; imerslund-gräsbeck syndrome; imerslund-najman-grasbeck syndrome; imerslund's syndrome; juvenile megaloblastic anaemia; juvenile megaloblastic anemia; megaloblastic anemia due to inborn errors of metabolism; pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria; selective cobalamin malabsorption with proteinuria; selective malabsorption of cyanocobalamin; vitamin b12 deficiency anemia due to selective malabsorption of cyanocobalamin","Name":"Imerslund-Grasbeck syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"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:35858"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007006","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS261100","Source__c":"MONDO:0009853","Xref__c":"OMIMPS:261100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551825","Source__c":"C4551825","Xref__c":"C4551825"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360495000","Source__c":"MONDO:0009853","Xref__c":"360495000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1640347","Source__c":"C4551825","Xref__c":"MEDGEN:1640347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538556","Source__c":"MONDO:0009853","Xref__c":"C538556"},{"URL__c":"https://www.orpha.net/en/disease/detail/35858","Source__c":"C4551825; MONDO:0009853; ORPHA:35858","Xref__c":"ORPHA:35858"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009853","Source__c":"GARD:0007006","Xref__c":"MONDO:0009853"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234363001","Source__c":"C4551825","Xref__c":"234363001"},{"URL__c":"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome","Source__c":"GARD:0007006","Xref__c":"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131677","Source__c":"C4551825","Xref__c":"C131677"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CUBN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cubn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AMN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001889","HPO_Name__c":"Megaloblastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of hemoglobin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020061","HPO_Synonym__c":"Abnormal Hb concentration","HPO_Name__c":"Abnormal hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100502","HPO_Synonym__c":"Vitamin B12 deficiency","HPO_Name__c":"Decreased circulating vitamin B12 concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004823","HPO_Name__c":"Anisopoikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","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:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of inflammation of the lips involving one or both of the corners of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030318","HPO_Synonym__c":"Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth","HPO_Name__c":"Angular cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000206","HPO_Synonym__c":"Inflammation of the tongue; Lingual inflammation; Smooth swollen tongue","HPO_Name__c":"Glossitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An excessive division of the lobes of the nucleus of a neutrophil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004821","HPO_Synonym__c":"Hypermature neutrophils; Hypersegmentation of neutrophil nuclei in peripheral blood","HPO_Name__c":"Hypersegmentation of neutrophil nuclei","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","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:35858","HPO_Frequency__c":"Occasional (5-29%)","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:35858","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200118","HPO_Name__c":"Malabsorption of Vitamin B12","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001972","HPO_Name__c":"Macrocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlarged, oval-shaped erythrocytes (red blood cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032566","HPO_Name__c":"Oval macrocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of 5-methyltetrahydrofolate in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410216","HPO_Synonym__c":"Abnormal serum methylfolate Level","HPO_Name__c":"Abnormal blood 5-methyltetrahydrofolate level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35858","HPO_Frequency__c":"Occasional (5-29%)","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","Gastroenterology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Hematology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["enterocyte cobalamin malabsorption"," enterocyte intrinsic factor receptor, defect of"," familial megaloblastic anaemia"," familial megaloblastic anemia"," imerslund disease"," imerslund-grasbeck anemia"," imerslund-grasbeck disease"," imerslund-gräsbeck syndrome"," imerslund-najman-grasbeck syndrome"," imerslund's syndrome"," juvenile megaloblastic anaemia"," juvenile megaloblastic anemia"," megaloblastic anemia due to inborn errors of metabolism"," pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria"," selective cobalamin malabsorption with proteinuria"," selective malabsorption of cyanocobalamin"," vitamin b12 deficiency anemia due to selective malabsorption of cyanocobalamin"]}