{"Name":"Hereditary intrinsic factor deficiency","DiseaseID__c":"GARD:0003024","id":3024,"encodedName":"hereditary-intrinsic-factor-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary intrinsic factor deficiency","Xref_IDs__c":"60504009; C2062370; C563242; DOID:0050734; MEDGEN:1876474; MONDO:0009852; OMIM:261000; ORPHA:332","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009852","Disease_Description__c":"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.","GARD_Name__c":"Hereditary intrinsic factor deficiency","GARD_Synonym__c":"congenital deficiency of intrinsic factor; congenital intrinsic factor deficiency; congenital pernicious anaemia; congenital pernicious anemia; gastric intrinsic factor deficiency; hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency; hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; ifd; intrinsic factor deficiency; pernicious anemia, congenital, due to defect of intrinsic factor","Curated_Disease_Description_Source__c":"GARD:0003024","Curated_Disease_Description__c":"Congenital intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Symptoms may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc.). Nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet. Congenital intrinsic factor deficiency is caused by changes in the GIF gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009852","ORPHANET_ID__c":"ORPHA:332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de factor intrínseco","Spanish_Description_Source__c":"ORPHA:332","Spanish_Description__c":"El déficit congénito de factor intrínseco (DFI) es un trastorno raro de la absorción de la vitamina B12 (cobalamina) que se caracteriza por una anemia megaloblástica y anomalías neurológicas.","Spanish_Disease_Name__c":"deficiencia congénita de factor intrínseco","Spanish_GARD_Synonym__c":"anemia megaloblástica hereditaria juvenil por deficiencia de factor intrínseco; anemia perniciosa congénita; deficiencia de factor intrínseco; deficiencia de factor intrínseco gástrico; dfi","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":"Congenital intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Symptoms may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc.). Nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet. Congenital intrinsic factor deficiency is caused by changes in the GIF gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0003024","GARD_Synonym__c":"congenital deficiency of intrinsic factor; congenital intrinsic factor deficiency; congenital pernicious anaemia; congenital pernicious anemia; gastric intrinsic factor deficiency; hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency; hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; ifd; intrinsic factor deficiency; pernicious anemia, congenital, due to defect of intrinsic factor","Name":"Hereditary intrinsic factor 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:332"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003024","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/261000","Source__c":"C2062370; MONDO:0009852; ORPHA:332","Xref__c":"OMIM:261000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60504009","Source__c":"MONDO:0009852","Xref__c":"60504009"},{"URL__c":"https://www.orpha.net/en/disease/detail/332","Source__c":"C2062370; MONDO:0009852","Xref__c":"ORPHA:332"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050734","Source__c":"MONDO:0009852","Xref__c":"DOID:0050734"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563242","Source__c":"MONDO:0009852","Xref__c":"C563242"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009852","Source__c":"GARD:0003024","Xref__c":"MONDO:0009852"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234361004","Source__c":"C2062370","Xref__c":"234361004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1876474","Source__c":"C2062370","Xref__c":"MEDGEN:1876474"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2062370","Source__c":"C2062370","Xref__c":"C2062370"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CBLIF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005219","HPO_Synonym__c":"Intrinsic factor absent from gastric juice","HPO_Name__c":"Absence of intrinsic factor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200143","HPO_Name__c":"Megaloblastic erythroid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Very frequent (80-99%)","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:332","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:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006827","HPO_Synonym__c":"Degeneration of the spinal cord","HPO_Name__c":"Atrophy of the spinal cord","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased concentration of methylmalonic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012120","HPO_Synonym__c":"High blood methylmalonic acid levels; Methymalonicaciduria","HPO_Name__c":"Methylmalonic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of homocystine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002160","HPO_Synonym__c":"Elevated blood homocystine; Homocystinemia","HPO_Name__c":"Hyperhomocystinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000344","HPO_Name__c":"Anti-intrinsic factor antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025406","HPO_Synonym__c":"Lack of energy and strength; Weakness","HPO_Name__c":"Asthenia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of methylmalonic acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002912","HPO_Synonym__c":"Elevated circulating methylmalonic acid concentration","HPO_Name__c":"Methylmalonic acidemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital deficiency of intrinsic factor"," congenital intrinsic factor deficiency"," congenital pernicious anaemia"," congenital pernicious anemia"," gastric intrinsic factor deficiency"," hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency"," hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency"," ifd"," intrinsic factor deficiency"," pernicious anemia, congenital, due to defect of intrinsic factor"]}