{"Name":"Familial hypobetalipoproteinemia 1","DiseaseID__c":"GARD:0002876","id":2876,"encodedName":"familial-hypobetalipoproteinemia-1","IsDeleted":false,"Disease_Name_Full__c":"Familial hypobetalipoproteinemia 1","Xref_IDs__c":"60193003; C4551990; C566267; DOID:0111062; MEDGEN:1639219; MONDO:0014252; OMIM:615558","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0014252","Disease_Description__c":"Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.","GARD_Name__c":"Familial hypobetalipoproteinemia 1","GARD_Synonym__c":"acanthocytosis with hypobetalipoproteinemia; apob hypobetalipoproteinemia; familial hypobetalipoproteinemia type 1; fhbl1; hypobetalipoproteinemia caused by mutation in apob; hypobetalipoproteinemia, familial, type 1; hypobetalipoproteinemia, normotriglyceridemic","Curated_Disease_Description_Source__c":"GARD:0002876","Curated_Disease_Description__c":"Hypobetalipoproteinemia, familial, 1 is a disorder that impairs the body's ability to absorb and transport fats, causing low levels of cholesterol in the blood. The severity of the condition varies widely. Mildly affected people may have no signs or symptoms. Many affected people develop an abnormal buildup of fats in the liver (called hepatic steatosis, or fatty liver). In severe cases, this may progress to cirrhosis. Some people also have digestive problems in childhood, resulting in failure to thrive. Hypobetalipoproteinemia, familial, 1 is usually caused by genetic changes in the APOB gene. In a few cases, it may be caused by genetic changes in other genes, or the cause may be unknown. It is inherited in an autosomal codominant manner; a genetic change in one copy of the APOB gene can cause the condition, but changes in both copies of the gene cause more severe symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:615558","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014252","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Hypobetalipoproteinemia, familial, 1 is a disorder that impairs the body's ability to absorb and transport fats, causing low levels of cholesterol in the blood. The severity of the condition varies widely. Mildly affected people may have no signs or symptoms. Many affected people develop an abnormal buildup of fats in the liver (called hepatic steatosis, or fatty liver). In severe cases, this may progress to cirrhosis. Some people also have digestive problems in childhood, resulting in failure to thrive. Hypobetalipoproteinemia, familial, 1 is usually caused by genetic changes in the APOB gene. In a few cases, it may be caused by genetic changes in other genes, or the cause may be unknown. It is inherited in an autosomal codominant manner; a genetic change in one copy of the APOB gene can cause the condition, but changes in both copies of the gene cause more severe symptoms.","Curated_Disease_Description_Source__c":"GARD:0002876","GARD_Synonym__c":"acanthocytosis with hypobetalipoproteinemia; apob hypobetalipoproteinemia; familial hypobetalipoproteinemia type 1; fhbl1; hypobetalipoproteinemia caused by mutation in apob; hypobetalipoproteinemia, familial, type 1; hypobetalipoproteinemia, normotriglyceridemic","Name":"Familial hypobetalipoproteinemia 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002876","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK570370","Source__c":"Gene Review","Xref__c":"NBK570370"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551990","Source__c":"C4551990","Xref__c":"C4551990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566267","Source__c":"MONDO:0014252","Xref__c":"C566267"},{"URL__c":"https://www.omim.org/entry/615558","Source__c":"C4551990; MONDO:0014252","Xref__c":"OMIM:615558"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1639219","Source__c":"C4551990","Xref__c":"MEDGEN:1639219"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111062","Source__c":"MONDO:0014252","Xref__c":"DOID:0111062"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60193003","Source__c":"MONDO:0014252","Xref__c":"60193003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014252","Source__c":"GARD:0002876","Xref__c":"MONDO:0014252"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apob","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615558","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002570","HPO_Synonym__c":"Fat in feces; Fatty stool; Greasy stools","HPO_Name__c":"Steatorrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615558","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100513","HPO_Synonym__c":"Alpha-tocopherol deficiency; Low levels of vitamin E; Vitamin E deficiency","HPO_Name__c":"Decreased circulating vitamin E concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001927","HPO_Synonym__c":"Acanthocytes; Red cell acanthocytosis","HPO_Name__c":"Acanthocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003563","HPO_Synonym__c":"Decreased circulating low-density lipoprotein levels; Decreased LDLc concentration; Hypobetalipoproteinemia","HPO_Name__c":"Decreased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003146","HPO_Synonym__c":"Decreased circulating cholesterol level","HPO_Name__c":"Hypocholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of vitamin A below the lower limit of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004905","HPO_Synonym__c":"Low levels of vitamin A; Vitamin A deficiency","HPO_Name__c":"Reduced circulating vitamin A concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["acanthocytosis with hypobetalipoproteinemia"," apob hypobetalipoproteinemia"," familial hypobetalipoproteinemia type 1"," fhbl1"," hypobetalipoproteinemia caused by mutation in apob"," hypobetalipoproteinemia, familial, type 1"," hypobetalipoproteinemia, normotriglyceridemic"]}