{"Name":"Tangier disease","DiseaseID__c":"GARD:0007731","id":7731,"encodedName":"tangier-disease","IsDeleted":false,"Disease_Name_Full__c":"Tangier disease","Xref_IDs__c":"723579009; C0039292; C85182; D013631; DOID:1388; MEDGEN:52644; MONDO:0008783; NBK549920; OMIM:205400; ORPHA:31150","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0008783","Disease_Description__c":"A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.","GARD_Name__c":"Tangier disease","GARD_Synonym__c":"analphalipoproteinemia; atp-binding cassette transporter a1 deficiency; cholesterol thesaurismosis; defective adenosine triphosphate-binding cassette transporter a1; familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency; high density lipoprotein deficiency, tangier type; high density lipoprotein deficiency, type 1; tgd","Curated_Disease_Description_Source__c":"GARD:0007731","Curated_Disease_Description__c":"Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as 'good cholesterol' because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the outermost layer of the eye (corneal clouding), and type 2 diabetes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:31150","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008783","ORPHANET_ID__c":"ORPHA:31150","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de tangier","Spanish_Description_Source__c":"ORPHA:31150","Spanish_Description__c":"Es una enfermedad neurometabólica hereditaria poco frecuente caracterizada bioquímicamente por una ausencia casi completa de lipoproteínas de alta densidad (HDL) en plasma y, clínicamente, por agrandamiento hepático, esplénico, de los ganglios linfáticos y de las amígdalas acompañado de neuropatía periférica multifocal, y de enfermedades corneales, cutáneas y ungueales y, ocasionalmente, cardiovasculares.","Spanish_Disease_Name__c":"enfermedad de tangier","Spanish_GARD_Synonym__c":"analfalipoproteinemia; casete transportador de unión a adenosina trifosfato a1 defectuoso; deficiencia del casete transportador de unión a atp a1","Category_Linearization__c":"ORPHA:97978","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":"Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as 'good cholesterol' because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the outermost layer of the eye (corneal clouding), and type 2 diabetes.","Curated_Disease_Description_Source__c":"GARD:0007731","GARD_Synonym__c":"analphalipoproteinemia; atp-binding cassette transporter a1 deficiency; cholesterol thesaurismosis; defective adenosine triphosphate-binding cassette transporter a1; familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency; high density lipoprotein deficiency, tangier type; high density lipoprotein deficiency, type 1; tgd","Name":"Tangier disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:31150"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:31150"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:31150"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:31150"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:31150"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0039292"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007731","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK549920","Source__c":"Gene Review","Xref__c":"NBK549920"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52644","Source__c":"C0039292","Xref__c":"MEDGEN:52644"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013631","Source__c":"C0039292; MONDO:0008783","Xref__c":"D013631"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723579009","Source__c":"C0039292; MONDO:0008783","Xref__c":"723579009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1388","Source__c":"MONDO:0008783","Xref__c":"DOID:1388"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85182","Source__c":"C0039292; MONDO:0008783","Xref__c":"C85182"},{"URL__c":"https://www.omim.org/entry/205400","Source__c":"C0039292; MONDO:0008783; ORPHA:31150","Xref__c":"OMIM:205400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039292","Source__c":"C0039292","Xref__c":"C0039292"},{"URL__c":"https://www.orpha.net/en/disease/detail/31150","Source__c":"C0039292; MONDO:0008783; ORPHA:31150","Xref__c":"ORPHA:31150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008783","Source__c":"GARD:0007731","Xref__c":"MONDO:0008783"},{"URL__c":"https://medlineplus.gov/genetics/condition/tangier-disease","Source__c":"GARD:0007731","Xref__c":"https://medlineplus.gov/genetics/condition/tangier-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030814","HPO_Synonym__c":"Orange colored tonsils; Orange tonsils; Tonsils with orange deposits","HPO_Name__c":"Orange discolored tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","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":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An outward turning (eversion) or rotation of the eyelid margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000656","HPO_Synonym__c":"Eyelid turned out","HPO_Name__c":"Ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the coronary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005145","HPO_Synonym__c":"Narrowing of coronary artery","HPO_Name__c":"Coronary artery stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","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:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003396","HPO_Synonym__c":"Fluid-filled cyst in spinal cord; Syrinx","HPO_Name__c":"Syringomyelia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic form of lymphadenopathy that is not related to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002730","HPO_Name__c":"Chronic noninfectious lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of the carotid arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100546","HPO_Synonym__c":"Carotid stenosis; Narrowing of carotid artery","HPO_Name__c":"Carotid artery stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001349","HPO_Synonym__c":"Bilateral facial weakness; Facial paresis, bilateral","HPO_Name__c":"Facial diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007133","HPO_Synonym__c":"Progressive polyneuropathy","HPO_Name__c":"Progressive peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004943","HPO_Name__c":"Accelerated atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Endocrine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["analphalipoproteinemia"," atp-binding cassette transporter a1 deficiency"," cholesterol thesaurismosis"," defective adenosine triphosphate-binding cassette transporter a1"," familial alpha-lipoprotein deficiency"," familial high density lipoprotein deficiency"," high density lipoprotein deficiency, tangier type"," high density lipoprotein deficiency, type 1"," tgd"]}