MCID: TNG002
MIFTS: 62

Tangier Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Tangier Disease

MalaCards integrated aliases for Tangier Disease:

Name: Tangier Disease 54 12 50 24 25 56 71 29 13 52 42 14 69
Analphalipoproteinemia 25 56 71
Familial High Density Lipoprotein Deficiency Disease 50 25
Alpha High Density Lipoprotein Deficiency Disease 50 25
Familial High Density Lipoprotein Deficiency 12 24
Hypoalphalipoproteinemia, Familial 24 69
Hdl Lipoprotein Deficiency Disease 50 25
Familial Hypoalphalipoproteinemia 12 25
a-Alphalipoprotein Neuropathy 50 25
Cholesterol Thesaurismosis 50 25
Tangier Disease Neuropathy 25 69
Familial Hdl Deficiency 24 69
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 56
High Density Lipoprotein Deficiency, Tangier Type 50
Atp-Binding Cassette Transporter A1 Deficiency 56
Lipoprotein Deficiency Disease, Hdl, Familial 25
High Density Lipoprotein Deficiency, Type 1 50
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 71
Familial Hypoalphalipo-Proteinemia 50
Tangier Hereditary Neuropathy 25
Analphalipo-Proteinemia 50
Hdldt1 50
Hdld1 71
Tgd 71

Characteristics:

Orphanet epidemiological data:

56
tangier disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tangier Disease

Genetics Home Reference : 25 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.

MalaCards based summary : Tangier Disease, also known as analphalipoproteinemia, is related to fish-eye disease and peripheral artery disease, and has symptoms including hypertriglyceridemia, thrombocytopenia and anemia. An important gene associated with Tangier Disease is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Glyburide and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, tonsil and heart, and related phenotypes are Decreased free cholesterol and cellular

NIH Rare Diseases : 50 tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (hdl) - the 'good cholesterol' - in the blood. because people with tangier disease have very low levels of hdl, they have a moderately increased risk of cardiovascular disease. tangier disease is caused by mutations in the abca1 gene. it is inherited in an autosomal recessive pattern. last updated: 8/19/2011

UniProtKB/Swiss-Prot : 71 High density lipoprotein deficiency 1: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.

OMIM : 54
Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (Brooks-Wilson et al., 1999). (205400)

Wikipedia : 72 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or hypoalphalipoproteinemia is a... more...

Related Diseases for Tangier Disease

Diseases related to Tangier Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 82, show less)
id Related Disease Score Top Affiliating Genes
1 fish-eye disease 26.7 ALB APOA1 APOA2 APOB APOE CETP
2 peripheral artery disease 26.1 ABCA1 ALB APOA1 APOA2 APOB APOE
3 apoa1-associated familial high density lipoprotein deficiency 12.3
4 abca1-associated familial high density lipoprotein deficiency 12.3
5 abca1-related familial high density lipoprotein deficiency 12.3
6 catel-manzke syndrome 11.2
7 hypoalphalipoproteinemia 11.2
8 aquagenic syringeal acrokeratoderm 10.7 APOA1 LCAT
9 lipoprotein glomerulopathy 10.5 APOE LCAT
10 pars planitis 10.5 APOA1 APOE
11 amelogenesis imperfecta, type iia3 10.5 APOA1 APOE
12 short stature, brachydactyly, intellectual developmental disability, and seizures 10.4 APOA1 APOA2 LCAT
13 hereditary congenital facial paresis 10.4 APOA1 APOA2
14 amyloidosis nodular localized cutaneous 10.3 APOA1 LCAT LPA
15 afibrinogenemia, congenital 10.3 APOA1 APOA2 LPA
16 iron metabolism disease 10.3 APOE PLTP
17 female infertility of uterine origin 10.1 ALB LCAT
18 neuropathy 10.1
19 xk aprosencephaly 10.0 APOB APOE
20 syringomyelia 10.0
21 hypercholesterolemia, due to ligand-defective apo b 10.0 APOB APOE
22 arthritis 10.0 ABCA1 APOE CETP LPA
23 atherosclerosis 10.0
24 joubert syndrome 21 9.9 ABCA1 APOA1 APOB
25 heart disease 9.9
26 otospondylomegaepiphyseal dysplasia 9.9 APOA1 APOB
27 fetal parvovirus syndrome 9.9 APOA1 APOB LCAT
28 cataract, autosomal dominant congenital 4 9.9 APOB APOE
29 islet cell tumor 9.8 APOA1 APOB APOE
30 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.8 APOB APOE LCAT
31 polyneuropathy 9.8
32 eye disease 9.8
33 leprosy 9.8
34 hypobetalipoproteinemia 9.8 APOB APOE LCAT
35 legg-calve-perthes disease 9.8 APOA1 APOB
36 dental anomalies and short stature 9.8 APOA1 APOB LPA
37 malignant fibrous histiocytoma of bone 9.7 APOB APOE LPA
38 ovarian clear cell malignant adenofibroma 9.7 APOA1 APOB NPC1
39 malignant type ab thymoma 9.7 APOA1 APOB APOE
40 artery disease 9.7
41 mucositis 9.7
42 tonsillitis 9.7
43 pancreatitis 9.7
44 malaria 9.7
45 neuronitis 9.7
46 werner syndrome 9.7
47 amyloid neuropathy 9.7
48 hypertriglyceridemia 9.7
49 apo a-i deficiency 9.7
50 lewis-sumner syndrome 9.7
51 pontocerebellar hypoplasia 9.5 APOA1 APOB APOE CETP
52 familial osteochondritis dissecans 9.5 ALB APOA1 APOA2 APOE LCAT
53 glossopharyngeal nerve disease 9.5 APOA1 APOB APOE LPA
54 myelophthisic anemia 9.5 APOA1 APOB APOE LPA
55 macular degeneration, age-related, 1 9.4 ABCA1 APOB APOE CETP
56 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.4 APOB APOE
57 stroke, ischemic 9.3 APOB APOE LPA
58 exudative vitreoretinopathy 2, x-linked 9.3 ALB APOB
59 wolfram syndrome 2 9.2 APOA1 APOB APOE CETP LCAT
60 hyperlipidemia, familial combined 9.2 APOA1 APOA2 APOB APOE CETP
61 hyperchylomicronemia, late-onset 9.2 APOA1 APOA2 APOB APOE CETP
62 migraine with or without aura 1 9.2 APOA1 APOA2 APOB APOE LPA
63 mental retardation, autosomal dominant 45 9.2 APOA2 APOB APOE LCAT LPA
64 angina pectoris 9.2 ALB APOA1 APOB LPA
65 alzheimer disease-2 9.2 APOA1 APOB APOE CETP LPA
66 pericarditis 9.1 APOA1 APOB APOE CETP LPA
67 hypertension, essential 9.1 ALB APOA1 APOB LPA
68 melorheostosis 8.9 ALB APOA1 APOB APOE CETP
69 acute apical periodontitis 8.9 APOA1 APOB APOE CETP LCAT LPA
70 skin squamous cell carcinoma 8.9 APOA1 APOB APOE CETP LCAT LPA
71 von hippel-lindau syndrome 8.8 APOA1 APOB APOE CETP LCAT LPA
72 hepatic adenoma, somatic 8.7 ALB APOA1 APOB CETP LPA
73 bird fancier's lung 8.7 ABCA1 APOA1 APOA2 APOB APOE LCAT
74 chondrocalcinosis with early-onset osteoarthritis 8.4 APOA1 APOB APOE CETP LCAT LPA
75 codas syndrome 8.4 ABCA1 APOA1 APOA2 APOB APOE CETP
76 macular degeneration, age-related, 12 8.3 ABCA1 APOA1 APOA2 APOB APOE CETP
77 lissencephaly 6, with microcephaly 8.2 ABCA1 APOA1 APOA2 APOB APOE CETP
78 myocardial infarction 8.0 ABCA1 ALB APOA1 APOA2 APOB APOE
79 stone in bladder diverticulum 8.0 ALB APOA1 APOA2 APOB APOE CETP
80 apolipoprotein c-iii deficiency 7.8 ABCA1 APOA1 APOA2 APOB APOE CETP
81 maturity-onset diabetes of the young 6 7.4 ALB APOA1 APOA2 APOB APOE CETP
82 obesity, hyperphagia, and developmental delay 5.5 ABCA1 ABCG1 ALB APOA1 APOA2 APOB

Graphical network of the top 20 diseases related to Tangier Disease:



Diseases related to Tangier Disease

Symptoms & Phenotypes for Tangier Disease

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
visual impairment
corneal opacities
decreased corneal sensation due to peripheral neuropathy
cicatricial ectropion
incomplete eyelid closure
more
Neurologic- Peripheral Nervous System:
hyporeflexia
peripheral axonal neuropathy
pain and temperature sensation loss
nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons

Abdomen- Spleen:
splenomegaly

Skin Nails & Hair- Skin:
dry skin

Muscle Soft Tissue:
distal muscle atrophy due to peripheral neuropathy

Head And Neck- Mouth:
enlarged, yellow-orange tonsils

Neurologic:
syringomyelia-like syndrome

Skin Nails & Hair- Nails:
dystrophic nails

Abdomen- Liver:
hepatomegaly

Cardiovascular- Heart:
left ventricular hypertrophy
myocardial infarction
heart disease, premature

Cardiovascular- Vascular:
atherosclerosis
coronary artery disease, premature

Head And Neck- Face:
facial diplegia due to peripheral neuropathy

Skin Nails & Hair- Hair:
distal loss of facial hair

Laboratory- Abnormalities:
decreased serum hdl cholesterol
decreased or absent apolipoprotein a-i
accumulation of cholesterol esters in various tissues
deficient efflux of intracellular cholesterol


Clinical features from OMIM:

205400

Human phenotypes related to Tangier Disease:

56 32 (showing 34, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002155
2 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
3 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 left ventricular hypertrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001712
5 syringomyelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003396
6 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
7 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
8 facial diplegia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001349
9 peripheral axonal neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0003477
10 distal muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0002460
11 progressive peripheral neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0007133
12 ectropion 56 32 frequent (33%) Frequent (79-30%) HP:0000656
13 nail dystrophy 56 32 frequent (33%) Frequent (79-30%) HP:0008404
14 hepatosplenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001433
15 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
16 impaired thermal sensitivity 56 32 occasional (7.5%) Occasional (29-5%) HP:0006901
17 hypocholesterolemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003146
18 coronary artery stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0005145
19 chronic noninfectious lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002730
20 accelerated atherosclerosis 56 32 frequent (33%) Frequent (79-30%) HP:0004943
21 carotid artery stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100546
22 orange discoloured tonsils 56 32 frequent (33%) Frequent (79-30%) HP:0030814
23 visual impairment 32 HP:0000505
24 hyporeflexia 32 HP:0001265
25 hepatomegaly 32 HP:0002240
26 splenomegaly 32 HP:0001744
27 myocardial infarction 32 HP:0001658
28 distal amyotrophy 32 HP:0003693
29 nail dysplasia 32 HP:0002164
30 hypoalphalipoproteinemia 32 HP:0003233
31 opacification of the corneal stroma 32 HP:0007759
32 impaired pain sensation 32 HP:0007328
33 impaired temperature sensation 32 HP:0010829
34 peripheral demyelination 32 HP:0011096

UMLS symptoms related to Tangier Disease:


dry skin

GenomeRNAi Phenotypes related to Tangier Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.23 ABCA1 APOA1 APOB APOE CETP LPA

MGI Mouse Phenotypes related to Tangier Disease:

44 (showing 4, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 APOE NPC1 PLCG1 ABCA1 ABCG1 ALB
2 endocrine/exocrine gland MP:0005379 9.7 ABCA1 ALB APOA1 APOE LCAT NPC1
3 homeostasis/metabolism MP:0005376 9.65 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
4 liver/biliary system MP:0005370 9.23 ABCA1 ABCG1 ALB APOA1 APOB APOE

Drugs & Therapeutics for Tangier Disease

Drugs for Tangier Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 4, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4 10238-21-8 3488
2 Hypoglycemic Agents Phase 4
3
Adenosine Approved, Investigational 58-61-7 60961
4 Pharmaceutical Solutions

Interventional clinical trials:

(showing 6, show less)

id Name Status NCT ID Phase Drugs
1 R230C and C230C Variants of ABCA1 and Glyburide Response Completed NCT01456650 Phase 4 Glyburide
2 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 Phase 3
3 Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children Completed NCT01886495 Phase 3
4 High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese Women Completed NCT01763528 Phase 3
5 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
6 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Tangier Disease

Cochrane evidence based reviews: tangier disease

Genetic Tests for Tangier Disease

Genetic tests related to Tangier Disease:

id Genetic test Affiliating Genes
1 Tangier Disease 29 24 ABCA1
2 Familial High Density Lipoprotein Deficiency 24 APOA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

39
Liver, Tonsil, Heart, Lymph Node, Spleen, Skin, Eye

Publications for Tangier Disease

Articles related to Tangier Disease:

(showing 197, show less)
id Title Authors Year
1
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
2
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
3
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
4
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
5
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
6
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
7
Tangier disease in a Turkish family. ( 25335997 )
2014
8
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
9
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
10
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
11
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
12
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
13
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
14
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
15
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
16
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
17
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
18
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
19
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
20
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
21
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
22
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
23
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
24
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
25
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
26
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
27
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
28
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
29
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
30
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
31
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
32
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
33
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
34
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
35
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
36
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
37
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
38
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
39
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
40
Tangier disease: still more questions than answers. ( 16235041 )
2005
41
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. ( 15384103 )
2004
42
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. ( 15502486 )
2004
43
The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. ( 15001567 )
2004
44
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
45
Tangier disease--a diagnostic challenge in countries endemic for leprosy. ( 14742612 )
2004
46
Tangier disease. ( 15314143 )
2004
47
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
48
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004
49
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. ( 12615648 )
2003
50
Postprandial hypertriglyceridaemia in patients with Tangier disease. ( 14645354 )
2003
51
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene. ( 12576507 )
2003
52
Tangier disease with unusual clinical manifestations. ( 12702168 )
2003
53
Falciparum malaria and Tangier disease. ( 12718813 )
2003
54
Tonsil with Tangier disease. ( 12696235 )
2003
55
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. ( 12111371 )
2002
56
Coronary artery bypass grafting for a patient with Tangier disease. ( 12382407 )
2002
57
Double deletions and missense mutations in the first nucleotide- binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease. ( 12111381 )
2002
58
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. ( 11927274 )
2002
59
Accumulation of RhoA, RhoB, RhoG, and Rac1 in fibroblasts from Tangier disease subjects suggests a regulatory role of Rho family proteins in cholesterol efflux. ( 11162504 )
2001
60
Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. ( 11350058 )
2001
61
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. ( 11227043 )
2001
62
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. ( 11476965 )
2001
63
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. ( 11181755 )
2001
64
Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects. ( 11445077 )
2001
65
Cholesterol and apolipoprotein B metabolism in Tangier disease. ( 11689226 )
2001
66
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. ( 11257260 )
2001
67
Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. ( 11369017 )
2001
68
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. ( 10655285 )
2000
69
Tangier disease as a test of the reverse cholesterol transport hypothesis. ( 11086021 )
2000
70
Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. ( 10884295 )
2000
71
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. ( 10706591 )
2000
72
Tangier disease and ABCA1. ( 11111099 )
2000
73
Decreased expression of a member of the Rho GTPase family, Cdc42Hs, in cells from Tangier disease - the small G protein may play a role in cholesterol efflux. ( 11078892 )
2000
74
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. ( 10787172 )
2000
75
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. ( 10845873 )
2000
76
ABC1: the gene for Tangier disease and beyond. ( 10812922 )
2000
77
Cholesterol efflux from normal and Tangier disease fibroblasts into normal, high-density lipoprotein-deficient, and apolipoprotein E-deficient plasmas. ( 10877205 )
2000
78
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. ( 10655069 )
2000
79
Tangier disease with continuous massive and longitudinal diffuse calcification in the coronary arteries : demonstration by the sagittal images of intravascular ultrasonography. ( 10821824 )
2000
80
Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. ( 10535983 )
1999
81
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. ( 10431237 )
1999
82
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. ( 10431236 )
1999
83
Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. ( 10431238 )
1999
84
Reduction in apolipoprotein-mediated removal of cellular lipids by immortalization of human fibroblasts and its reversion by cAMP: lack of effect with Tangier disease cells. ( 10508196 )
1999
85
Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. ( 9888863 )
1999
86
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. ( 10525055 )
1999
87
Decreased cholesterol efflux from fibroblasts of a patient without Tangier disease, but with markedly reduced high density lipoprotein cholesterol levels. ( 9506737 )
1998
88
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. ( 9731541 )
1998
89
Digestive tract involvement in an infant and a child with Tangier disease. ( 9702662 )
1998
90
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. ( 9678768 )
1998
91
Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I. ( 9610765 )
1998
92
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. ( 9327782 )
1997
93
Tangier disease. ( 8694332 )
1996
94
Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. ( 8941649 )
1996
95
The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency). ( 8707957 )
1996
96
HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. ( 7749882 )
1995
97
Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. ( 7615839 )
1995
98
Generation of pre-beta 1-HDL and conversion into alpha-HDL. Evidence for disturbed HDL conversion in Tangier disease. ( 7583552 )
1995
99
Tangier disease: an unusual diagnosis for the endoscopist. ( 8076579 )
1994
100
Colonic mucosal appearance of Tangier disease in a new patient. ( 7988831 )
1994
101
The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. ( 7999122 )
1994
102
Severe aortic stenosis and atherosclerosis in a young man with Tangier disease. ( 8184829 )
1994
103
Homozygous Tangier disease and cardiovascular disease. ( 7945562 )
1994
104
Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. ( 8432861 )
1993
105
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis. ( 8348751 )
1993
106
Tangier disease: isolation and characterization of LpA-I, LpA-II, LpA-I: A-II and LpA-IV particles from plasma. ( 8347683 )
1993
107
The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol. ( 1380771 )
1992
108
Aortic features in Tangier disease and pathogenetic considerations--Part I. Fatty dots and streaks. ( 1380464 )
1992
109
Characterization of metalloelastase-like activity from the plasma of a patient with Tangier disease. ( 1789930 )
1991
110
Abnormal processing of Golgi elements and lysosomes in Tangier disease. ( 2065025 )
1991
111
Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with Tangier disease and type V hyperlipoproteinemia. ( 1901345 )
1991
112
A discrepancy between in vivo and in vitro lipoprotein lipase activity in a patient with Tangier disease. ( 1769125 )
1991
113
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. ( 1802966 )
1991
114
Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. ( 1701170 )
1990
115
Tangier disease: central nervous system impairment in a case of syringomyelia-like syndrome. ( 2243232 )
1990
116
The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas. ( 2226526 )
1990
117
Tangier disease in a black patient: an unusual clinical presentation. ( 2164324 )
1990
118
Evaluation of the particle size distribution of plasma lipoprotein in a patient with Tangier disease by high performance liquid chromatography. ( 2073749 )
1990
119
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell. ( 2757970 )
1989
120
Absence of "A"-esterase activity in the serum of a patient with Tangier disease. ( 2558814 )
1989
121
Apolipoprotein A-I: deficiency in Tangier disease. ( 3146917 )
1988
122
Familial high-density lipoprotein deficiency (Tangier disease): the third Italian case. ( 3141697 )
1988
123
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). ( 3122840 )
1988
124
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. ( 3425387 )
1987
125
Studies on the mechanism of hypertriglyceridemia in Tangier disease. Determination of plasma lipolytic activities, k1 values and apolipoprotein composition of the major lipoprotein density classes. ( 3109493 )
1987
126
In vivo metabolism of proapolipoprotein A-I in Tangier disease. ( 3119665 )
1987
127
Cardiac valvular involvement in Tangier disease. ( 3799433 )
1987
128
Plasma apolipoproteins in Tangier disease, as studied with two-dimensional electrophoresis. ( 3100093 )
1987
129
A method to screen apolipoprotein polymorphisms in whole plasma: description of apolipoprotein A-IV variants in dyslipidemias and a reassessment of apolipoprotein A-I in Tangier disease. ( 3105587 )
1987
130
Abnormalities in spinal neurons and dorsal root ganglion cells in Tangier disease presenting with a syringomyelia-like syndrome. ( 3625234 )
1987
131
Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease. ( 3677505 )
1987
132
Ocular complications of Tangier disease. ( 3314502 )
1987
133
Immunochemical study of the plasma low and high density lipoproteins in Tangier disease. ( 3086124 )
1986
134
Bile lipids, platelet aggregability and pro-ApoAI processing in 2 cases of Tangier disease. ( 3736556 )
1986
135
Apoprotein A-I and lecithin: cholesterol acyltransferase in a patient with Tangier disease. ( 3099551 )
1986
136
Erythrocyte membrane alterations and plasma lipids in patients with chylomicronemia and in Tangier disease. ( 3019588 )
1986
137
Tangier disease: a disorder of intracellular membrane traffic. ( 2994070 )
1985
138
Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. ( 2997405 )
1985
139
Tangier disease apolipoprotein A-I compared with normal plasma A-I using monoclonal antibodies. ( 2408675 )
1985
140
Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. ( 2992211 )
1985
141
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. ( 4082916 )
1985
142
Tangier disease. The complete mRNA sequence encoding for preproapo-A- I. ( 2995392 )
1985
143
Urinary proteins in a patient with Tangier disease. ( 3926343 )
1985
144
The degradation of platelet-activating factor in the plasma of a patient with familial high density lipoprotein deficiency (Tangier disease). ( 4063532 )
1985
145
Tangier disease. A histological and ultrastructural study. ( 4070073 )
1985
146
The use of reversed-phase high-performance liquid chromatography to analyse the cholesterol ester profiles present in lipoproteins of patients exhibiting hyperalphalipoproteinaemia or hypoalphalipoproteinaemia (Tangier disease). ( 3934204 )
1985
147
Tangier disease. In vitro conversion of proapo-A-ITangier to mature APO-A-ITangier. ( 6725246 )
1984
148
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. ( 6428166 )
1984
149
Japanese adult siblings with Tangier disease and statistical analysis of reported cases. ( 6443624 )
1984
150
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). ( 6421598 )
1984
151
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies. ( 6152683 )
1984
152
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. ( 6614036 )
1983
153
Peripheral neuropathy in Tangier disease. ( 6317140 )
1983
154
Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins. ( 6412234 )
1983
155
Tangier disease with oral abnormalities. ( 6409822 )
1983
156
Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier). ( 6806810 )
1982
157
Morphology and cytometry of sural nerve in Tangier disease. ( 7183919 )
1982
158
Tangier disease with normal serum cholesterol. ( 6960872 )
1982
159
Tangier disease. High density lipoprotein deficiency due to defective metabolism of an abnormal apolipoprotein A-i (ApoA-ITangier). ( 7130397 )
1982
160
Tangier disease: heterozygote detection and linkage analysis. ( 6951800 )
1982
161
Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease. ( 7068673 )
1982
162
Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease). ( 6790903 )
1981
163
Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins. ( 6787156 )
1981
164
The splanchnic autonomic outflow in amyloid neuropathy and Tangier disease. ( 7194438 )
1981
165
Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). ( 7406376 )
1980
166
Charge-shift electrophoresis of apolipoproteins from normal humans and patients with Tangier disease. ( 216585 )
1979
167
Prenatal detection of Tangier disease. ( 90856 )
1979
168
Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease). ( 226043 )
1979
169
The metabolic defect in Tangier Disease. ( 215911 )
1979
170
High density lipoprotein infusion and partial plasma exchange in Tangier disease. ( 211037 )
1978
171
Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. ( 75948 )
1978
172
Properties of the plasma very low and low density lipoproteins in Tangier disease. ( 201668 )
1978
173
Abnormal concentration and anomalous distribution of apolipoprotein A-I in Tangier disease. ( 622047 )
1978
174
The role of high density lipoproteins in lecithin:cholesterol acyltransferase activity: perspectives from Tangier disease. ( 218282 )
1978
175
Tangier disease: one explanation of lipid storage. ( 210378 )
1978
176
Metabolism of high-density lipoprotein apolipoproteins in Tangier disease. ( 211412 )
1978
177
Apoprotein A metabolism in Tangier disease. ( 213084 )
1978
178
Apoprotein A-I synthesis in normal intestinal mucosa and in Tangier disease. ( 213720 )
1978
179
The storage lipids in Tangier disease. A physical chemical study. ( 193870 )
1977
180
Tangier disease (alpha-lipoprotein deficiency). ( 195100 )
1977
181
Characterization of high density lipoproteins in patients heterozygous for Tangier disease. ( 198431 )
1977
182
The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. ( 190272 )
1977
183
The pathology of Tangier disease. A light and electron microscopic study. ( 162820 )
1975
184
Tangier disease. ( 170484 )
1975
185
Tangier disease. ( 4373121 )
1974
186
Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. ( 4368872 )
1974
187
Nerve biopsy findings in two cases of Tangier disease. ( 4359503 )
1973
188
Peripheral nerve involvement in Tangier disease. ( 4361778 )
1973
189
Tangier disease. Report of a case and studies of lipid metabolism. ( 5058794 )
1972
190
Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. ( 4341435 )
1972
191
Pathology of Tangier disease. ( 5118827 )
1971
192
Red-cell lipids in familial alphalipoprotein deficiency (Tangier disease). ( 4173269 )
1968
193
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. ( 4165386 )
1967
194
Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities. ( 4165172 )
1967
195
Cutaneous cholesterol ester deposition in Tangier disease. ( 6018991 )
1967
196
Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. ( 5831900 )
1965
197
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). ( 14162531 )
1964

Variations for Tangier Disease

UniProtKB/Swiss-Prot genetic disease variations for Tangier Disease:

71 (showing 26, show less)
id Symbol AA change Variation ID SNP ID
1 ABCA1 p.Arg587Trp VAR_009146 rs2853574
2 ABCA1 p.Trp590Ser VAR_009147 rs137854496
3 ABCA1 p.Gln597Arg VAR_009148 rs2853578
4 ABCA1 p.Asn935Ser VAR_009150 rs28937313
5 ABCA1 p.Ala937Val VAR_009151 rs137854495
6 ABCA1 p.Asp1289Asn VAR_009152 rs137854500
7 ABCA1 p.Cys1477Arg VAR_009153 rs137854494
8 ABCA1 p.Ile1517Arg VAR_009154
9 ABCA1 p.Asn1800His VAR_009155 rs146292819
10 ABCA1 p.Ala255Thr VAR_012620 rs758100110
11 ABCA1 p.Thr929Ile VAR_012626
12 ABCA1 p.Ala1046Asp VAR_012627 rs141021096
13 ABCA1 p.Ser1506Leu VAR_012630 rs137854497
14 ABCA1 p.Arg2081Trp VAR_012635 rs137854501
15 ABCA1 p.Asn935His VAR_037968 rs28937314
16 ABCA1 p.Arg1680Trp VAR_037970 rs137854498
17 ABCA1 p.Glu284Lys VAR_062482
18 ABCA1 p.Tyr482Cys VAR_062485
19 ABCA1 p.Trp590Leu VAR_062487 rs137854496
20 ABCA1 p.Trp840Arg VAR_062491
21 ABCA1 p.Arg1068Cys VAR_062493 rs745593394
22 ABCA1 p.Leu1379Phe VAR_062497
23 ABCA1 p.Val1704Asp VAR_062501
24 ABCA1 p.Arg1851Gln VAR_062502
25 ABCA1 p.Arg1901Ser VAR_062504
26 ABCA1 p.Gln2196His VAR_062507 rs564764153

ClinVar genetic disease variations for Tangier Disease:

6 (showing 25, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCA1 NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg) single nucleotide variant Pathogenic rs137854494 GRCh37 Chromosome 9, 107568557: 107568557
2 ABCA1 NM_005502.3(ABCA1): c.3738+1G> C single nucleotide variant Pathogenic rs796051872 GRCh37 Chromosome 9, 107578423: 107578423
3 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh37 Chromosome 9, 107593308: 107593308
4 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh37 Chromosome 9, 107591230: 107591232
5 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh37 Chromosome 9, 107593274: 107593274
6 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh38 Chromosome 9, 104822520: 104822520
7 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh37 Chromosome 9, 107584795: 107584795
8 ABCA1 NM_005502.3(ABCA1) indel Pathogenic GRCh38 Chromosome 9, 104831740: 104831753
9 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
10 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
11 ABCA1 ABCA1, 1-BP DEL, 2665C deletion Pathogenic
12 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh37 Chromosome 9, 107566949: 107566949
13 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802
14 ABCA1 NG_007981.1 indel Pathogenic
15 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh37 Chromosome 9, 107560785: 107560785
16 ABCA1 NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh37 Chromosome 9, 107581111: 107581111
17 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh37 Chromosome 9, 107550750: 107550750
18 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
19 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh37 Chromosome 9, 107576450: 107576453
20 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
21 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant protective rs2230806 GRCh37 Chromosome 9, 107620867: 107620867
22 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
23 APOA1 APOA1, 1-BP INS insertion Pathogenic
24 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic
25 ABCA1 NM_005502.3(ABCA1): c.2803A> G (p.Asn935Asp) single nucleotide variant Likely pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521

Expression for Tangier Disease

Search GEO for disease gene expression data for Tangier Disease.

Pathways for Tangier Disease

Pathways related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 13, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
2
Show member pathways
12.4 APOA1 APOA2 APOB APOE
3
Show member pathways
12.27 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
4
Show member pathways
12.09 APOA1 APOA2 APOB APOE
5 11.8 ALB APOA1 APOE PLCG1
6
Show member pathways
11.64 ALB APOA1 APOB APOE
7 11.51 APOA1 APOA2 PLTP
8
Show member pathways
11.25 ABCA1 APOA1 APOB
9
Show member pathways
11.06 ABCA1 APOA1 APOA2 APOB APOE CETP
10 10.96 APOA1 APOA2 PLTP
11 10.9 ABCA1 CETP
12 10.89 APOA1 APOB
13 10.74 ABCA1 ABCG1 APOA1 APOA2

GO Terms for Tangier Disease

Cellular components related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.84 APOA1 APOA2 APOB APOE
2 endoplasmic reticulum lumen GO:0005788 9.83 ALB APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.8 ALB APOA1 APOA2 APOE
4 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
5 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
6 spherical high-density lipoprotein particle GO:0034366 9.52 APOA1 APOA2
7 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOA2 APOB APOE
8 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
9 chylomicron GO:0042627 9.26 APOA1 APOA2 APOB APOE
10 discoidal high-density lipoprotein particle GO:0034365 9.16 APOA1
11 high-density lipoprotein particle GO:0034364 9.1 ABCA1 APOA1 APOA2 APOE CETP LCAT
12 extracellular exosome GO:0070062 10.16 ALB APOA1 APOA2 APOB APOE CETP
13 extracellular space GO:0005615 10.08 ALB APOA1 APOA2 APOB APOE CETP
14 extracellular region GO:0005576 10.02 ALB APOA1 APOA2 APOB APOE CETP

Biological processes related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 53, show less)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.98 ALB APOA1 APOB APOE
2 lipid transport GO:0006869 9.97 ABCG1 APOA1 APOA2 APOB APOE CETP
3 retinoid metabolic process GO:0001523 9.92 APOA1 APOA2 APOB APOE
4 lipoprotein metabolic process GO:0042157 9.92 ABCA1 APOA1 APOA2 APOB APOE
5 low-density lipoprotein particle remodeling GO:0034374 9.91 ABCG1 APOA2 APOB APOE CETP LPA
6 phospholipid efflux GO:0033700 9.89 ABCA1 ABCG1 APOA1 APOA2 APOE
7 regulation of lipid metabolic process GO:0019216 9.88 ABCA1 APOA1 APOA2
8 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
9 high-density lipoprotein particle assembly GO:0034380 9.87 ABCA1 APOA1 APOA2 APOE
10 chylomicron assembly GO:0034378 9.86 APOA1 APOA2 APOB APOE
11 cholesterol transport GO:0030301 9.86 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
12 phospholipid homeostasis GO:0055091 9.85 ABCA1 ABCG1 APOA1 CETP
13 lipoprotein biosynthetic process GO:0042158 9.85 ABCA1 APOA1 APOB APOE LCAT
14 triglyceride metabolic process GO:0006641 9.84 APOA2 APOE CETP
15 chylomicron remodeling GO:0034371 9.84 APOA1 APOA2 APOB APOE
16 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
17 triglyceride homeostasis GO:0070328 9.82 APOA1 APOE CETP
18 triglyceride catabolic process GO:0019433 9.81 APOA1 APOB APOE
19 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.8 ABCA1 ABCG1 CETP
20 positive regulation of cholesterol esterification GO:0010873 9.79 APOA1 APOA2 APOE
21 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOA2 APOE
22 phospholipid transport GO:0015914 9.78 ABCA1 APOA1 CETP
23 regulation of Cdc42 protein signal transduction GO:0032489 9.77 ABCA1 APOA1 APOE
24 very-low-density lipoprotein particle remodeling GO:0034372 9.77 APOE CETP LCAT
25 high-density lipoprotein particle remodeling GO:0034375 9.76 ABCG1 ALB APOA1 APOA2 APOE CETP
26 lipid homeostasis GO:0055088 9.71 APOE CETP
27 low-density lipoprotein particle clearance GO:0034383 9.71 APOB NPC1
28 artery morphogenesis GO:0048844 9.71 APOB APOE
29 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
30 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
31 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
32 neuron projection regeneration GO:0031102 9.7 APOA1 APOE
33 negative regulation of cholesterol storage GO:0010887 9.69 ABCA1 ABCG1
34 intracellular cholesterol transport GO:0032367 9.69 ABCA1 ABCG1
35 negative regulation of cytokine secretion involved in immune response GO:0002740 9.69 APOA1 APOA2
36 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
37 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
38 regulation of intestinal cholesterol absorption GO:0030300 9.68 APOA1 APOA2
39 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
40 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
41 protein oxidation GO:0018158 9.66 APOA1 APOA2
42 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
43 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
44 cholesterol efflux GO:0033344 9.5 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
45 reverse cholesterol transport GO:0043691 9.17 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
46 transport GO:0006810 10.28 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
47 lipid metabolic process GO:0006629 10.18 ABCA1 APOA1 APOB APOE CETP LCAT
48 cholesterol homeostasis GO:0042632 10.06 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
49 post-translational protein modification GO:0043687 10.05 ALB APOA1 APOA2 APOB APOE
50 steroid metabolic process GO:0008202 10.05 ABCA1 APOA1 APOB APOE CETP LCAT
51 cellular protein metabolic process GO:0044267 10.03 ALB APOA1 APOA2 APOB APOE
52 cholesterol metabolic process GO:0008203 10.02 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
53 response to drug GO:0042493 10.01 ABCA1 APOA1 APOA2 NPC1

Molecular functions related to Tangier Disease according to GeneCards Suite gene sharing:

(showing 18, show less)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 ALB APOA1 APOA2 APOB APOE CETP
2 phospholipid binding GO:0005543 9.8 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
3 heparin binding GO:0008201 9.74 APOB APOE LPA
4 cholesterol binding GO:0015485 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
6 antioxidant activity GO:0016209 9.58 ALB APOE
7 phosphatidylcholine binding GO:0031210 9.58 APOA1 APOA2 CETP
8 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
9 phospholipid transporter activity GO:0005548 9.56 ABCA1 ABCG1 APOA1 CETP
10 apolipoprotein binding GO:0034185 9.55 ABCA1 LPA
11 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 APOA2
12 lipase inhibitor activity GO:0055102 9.52 APOA1 APOA2
13 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
14 cholesterol transporter activity GO:0017127 9.5 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
15 apolipoprotein A-I binding GO:0034186 9.49 ABCA1 LCAT
16 high-density lipoprotein particle receptor binding GO:0070653 9.48 APOA1 APOA2
17 apolipoprotein receptor binding GO:0034190 9.46 APOA1 APOA2
18 lipid transporter activity GO:0005319 9.1 APOA1 APOA2 APOB APOE CETP NPC1

Sources for Tangier Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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