HDLD1
MCID: TNG002
MIFTS: 62

Tangier Disease (HDLD1) malady

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

Aliases & Classifications for Tangier Disease

Aliases & Descriptions for Tangier Disease:

Name: Tangier Disease 54 12 50 24 25 56 66 29 13 52 42 14 69
Analphalipoproteinemia 25 56 66
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 66
Familial Hypoalphalipo-Proteinemia 50
Tangier Hereditary Neuropathy 25
Analphalipo-Proteinemia 50
Hdldt1 50
Hdld1 66
Tgd 66

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;

HPO:

32
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 205400
Disease Ontology 12 DOID:1388
ICD10 33 E78.6
MeSH 42 D013631
NCIt 47 C85182
SNOMED-CT 64 15346004 190783007
Orphanet 56 ORPHA31150
ICD10 via Orphanet 34 E78.6
MESH via Orphanet 43 D013631
UMLS via Orphanet 70 C0039292
MedGen 40 C0039292
UMLS 69 C0039292

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 hypertriglyceridemia and abca1-associated familial high density lipoprotein deficiency, and has symptoms including abdominal pain, hepatosplenomegaly and dry skin. 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 homeostasis/metabolism

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

OMIM : 54 Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density... (205400) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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:

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 30.4 ABCA1 APOA1 APOA2 APOB APOE CETP
2 abca1-associated familial high density lipoprotein deficiency 12.3
3 abca1-related familial high density lipoprotein deficiency 12.3
4 apoa1-associated familial high density lipoprotein deficiency 12.3
5 hypoalphalipoproteinemia 11.1
6 arena syndrome 10.3 APOA1 LCAT
7 lipoprotein glomerulopathy 10.2 APOE LCAT
8 hyperchlorhidrosis, isolated 10.2 APOA1 APOE
9 tyrosinemia, type ii 10.2 APOA1 APOA2 LCAT
10 pars planitis 10.2 APOA1 APOE
11 47,xyy syndrome 10.2 LCAT NPC1
12 anaplastic ganglioglioma 10.1 APOA1 LCAT LPA
13 neuropathy 10.1
14 iron metabolism disease 10.1 APOE PLTP
15 asphyxia neonatorum 10.1 ABCA1 APOE LPA
16 van maldergem syndrome 2 10.1 APOA1 APOA2 LPA
17 catel-manzke syndrome 10.1
18 hard palate cancer 10.1 APOA1 APOA2 APOE
19 zap-70 deficiency 10.0 APOB APOE
20 female infertility of uterine origin 10.0 ALB LCAT
21 keratoconus 4 10.0 APOB APOE
22 syringomyelia 10.0
23 thymus adenosquamous carcinoma 10.0 APOA1 APOA2 LCAT
24 hereditary lymphedema type ii 10.0 APOA1 APOA2
25 dyserythropoietic anemia, congenital, type ii 10.0 APOA1 APOE LCAT LPA
26 atherosclerosis 10.0
27 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 10.0 ABCA1 APOB APOE
28 fetal warfarin syndrome 10.0 APOA1 APOB LCAT
29 dentinogenesis imperfecta type 2 9.9 APOB APOE LCAT
30 joint disorders 9.9 APOA1 APOB APOE
31 craniodiaphyseal dysplasia 9.9 APOA1 APOB
32 hypercholesterolemia, due to ligand-defective apo b 9.9 APOB APOE LCAT
33 primary pigmented nodular adrenocortical disease 9.9 APOA1 APOB APOE
34 spinocerebellar ataxia 20 9.9 APOA1 APOB LPA
35 heart disease 9.9
36 cervix small cell carcinoma 9.9 APOA1 APOB APOE
37 posterior uveal melanoma 9.9 APOA1 APOB NPC1
38 bleeding disorder, east texas type 9.8 APOA1 APOA2 APOB APOE
39 polyneuropathy 9.8
40 eye disease 9.8
41 leprosy 9.8
42 fish-eye disease 9.8
43 familial progressive cardiac conduction defect 9.8 ALB APOA1 APOA2 APOE LCAT
44 optic nerve neoplasm 9.8 APOA1 APOB APOE LPA
45 myelophthisic anemia 9.8 APOA1 APOB APOE LPA
46 malignant hyperthermia susceptibility 1 9.8 ALB APOB LPA
47 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 ABCA1 APOB APOE CETP
48 body dysmorphic disorder 9.8 ALB APOA1 APOB
49 exudative vitreoretinopathy 2, x-linked 9.8 ALB APOB
50 mannosidosis, beta 9.7 APOA1 APOB APOE CETP LCAT

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



Diseases related to Tangier Disease

Symptoms & Phenotypes for Tangier Disease

Symptoms by clinical synopsis from OMIM:

205400

Clinical features from OMIM:

205400

Human phenotypes related to Tangier Disease:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 Frequent (79-30%) HP:0002027
2 hepatosplenomegaly 56 32 Frequent (79-30%) HP:0001433
3 dry skin 56 32 Frequent (79-30%) HP:0000958
4 corneal opacity 56 32 Occasional (29-5%) HP:0007957
5 hypertriglyceridemia 56 32 Very frequent (99-80%) HP:0002155
6 anemia 56 32 Occasional (29-5%) HP:0001903
7 nail dystrophy 56 32 Frequent (79-30%) HP:0008404
8 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
9 left ventricular hypertrophy 56 32 Occasional (29-5%) HP:0001712
10 ectropion 56 32 Frequent (79-30%) HP:0000656
11 distal muscle weakness 56 32 Frequent (79-30%) HP:0002460
12 hypocholesterolemia 56 32 Very frequent (99-80%) HP:0003146
13 syringomyelia 56 32 Occasional (29-5%) HP:0003396
14 peripheral axonal neuropathy 56 32 Frequent (79-30%) HP:0003477
15 carotid artery stenosis 56 32 Occasional (29-5%) HP:0100546
16 accelerated atherosclerosis 56 32 Frequent (79-30%) HP:0004943
17 chronic noninfectious lymphadenopathy 56 32 Frequent (79-30%) HP:0002730
18 coronary artery stenosis 56 32 Frequent (79-30%) HP:0005145
19 progressive peripheral neuropathy 56 32 Frequent (79-30%) HP:0007133
20 orange discoloured tonsils 56 32 Frequent (79-30%) HP:0030814
21 facial diplegia 56 32 Occasional (29-5%) HP:0001349
22 impaired thermal sensitivity 56 32 Occasional (29-5%) HP:0006901
23 splenomegaly 32 HP:0001744
24 hepatomegaly 32 HP:0002240
25 visual impairment 32 HP:0000505
26 myocardial infarction 32 HP:0001658
27 opacification of the corneal stroma 32 HP:0007759
28 impaired pain sensation 32 HP:0007328
29 hyporeflexia 32 HP:0001265
30 nail dysplasia 32 HP:0002164
31 distal amyotrophy 32 HP:0003693
32 hypoalphalipoproteinemia 32 HP:0003233
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
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
2 liver/biliary system MP:0005370 9.56 APOE LCAT NPC1 ABCA1 ABCG1 ALB
3 vision/eye MP:0005391 9.1 ABCA1 APOB APOE LCAT NPC1 PLTP

Drugs & Therapeutics for Tangier Disease

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


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:


id Name Status NCT ID Phase
1 R230C and C230C Variants of ABCA1 and Glyburide Response Completed NCT01456650 Phase 4
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 Active, not recruiting NCT01782027

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:

(show top 50) (show all 196)
id Title Authors Year
1
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
2
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
3
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
4
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
5
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
6
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
7
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
8
Tangier disease in a Turkish family. ( 25335997 )
2014
9
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
10
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
11
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
12
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
13
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
14
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
15
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
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
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
19
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
20
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
21
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
22
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
23
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
24
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
25
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
26
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
27
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
28
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
29
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
30
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
31
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
32
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
33
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
34
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
35
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
36
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
37
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
38
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
39
Tangier disease: still more questions than answers. ( 16235041 )
2005
40
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
41
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. ( 15384103 )
2004
42
Tangier disease--a diagnostic challenge in countries endemic for leprosy. ( 14742612 )
2004
43
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. ( 15502486 )
2004
44
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
45
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004
46
Tangier disease. ( 15314143 )
2004
47
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
48
Tangier disease with unusual clinical manifestations. ( 12702168 )
2003
49
Tonsil with Tangier disease. ( 12696235 )
2003
50
Falciparum malaria and Tangier disease. ( 12718813 )
2003

Variations for Tangier Disease

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

66 (show all 26)
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 (show all 24)
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 GRCh37 Chromosome 9, 107584801: 107584801
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.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh37 Chromosome 9, 107581111: 107581111
16 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh37 Chromosome 9, 107550750: 107550750
17 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
18 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh37 Chromosome 9, 107576450: 107576453
19 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
20 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant protective rs2230806 GRCh37 Chromosome 9, 107620867: 107620867
21 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
22 APOA1 APOA1, 1-BP INS insertion Pathogenic
23 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic
24 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:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
2
Show member pathways
12.42 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
Show member pathways
12.05 ABCA1 ALB APOA1 APOB APOE
6 11.77 ALB APOA1 APOE
7
Show member pathways
11.69 ALB APOA1 APOB APOE
8 11.51 APOA1 APOA2 PLTP
9
Show member pathways
11.25 ABCA1 APOA1 APOB
10 11.09 ABCA1 ABCG1
11
Show member pathways
11.06 ABCA1 APOA1 APOA2 APOB APOE CETP
12 11 APOA1 APOA2 PLTP
13 10.92 ABCA1 CETP
14 10.9 APOA1 APOB
15 10.74 ABCA1 ABCG1 APOA1 APOA2

GO Terms for Tangier Disease

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.85 ALB APOA1 APOA2 APOB APOE
2 early endosome GO:0005769 9.81 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 high-density lipoprotein particle GO:0034364 9.1 ABCA1 APOA1 APOA2 APOE CETP LCAT
11 extracellular exosome GO:0070062 10.13 ALB APOA1 APOA2 APOB APOE CETP
12 extracellular space GO:0005615 10.03 ALB APOA1 APOA2 APOB APOE CETP
13 extracellular region GO:0005576 10.02 ALB APOA1 APOA2 APOB APOE CETP

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

(show top 50) (show all 52)
id Name GO ID Score Top Affiliating Genes
1 cholesterol transport GO:0030301 9.97 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
2 retinoid metabolic process GO:0001523 9.92 APOA1 APOA2 APOB APOE
3 high-density lipoprotein particle remodeling GO:0034375 9.92 ABCG1 ALB APOA1 APOA2 APOE CETP
4 phospholipid efflux GO:0033700 9.89 ABCA1 ABCG1 APOA1 APOA2 APOE
5 regulation of lipid metabolic process GO:0019216 9.88 ABCA1 APOA1 APOA2
6 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
7 high-density lipoprotein particle assembly GO:0034380 9.87 ABCA1 APOA1 APOA2 APOE
8 chylomicron assembly GO:0034378 9.86 APOA1 APOA2 APOB APOE
9 phospholipid transport GO:0015914 9.85 ABCA1 APOA1 CETP
10 phospholipid homeostasis GO:0055091 9.85 ABCA1 ABCG1 APOA1 CETP
11 triglyceride metabolic process GO:0006641 9.84 APOA2 APOE CETP
12 chylomicron remodeling GO:0034371 9.84 APOA1 APOA2 APOB APOE
13 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
14 triglyceride homeostasis GO:0070328 9.82 APOA1 APOE CETP
15 triglyceride catabolic process GO:0019433 9.81 APOA1 APOB APOE
16 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.8 ABCA1 ABCG1 CETP
17 cholesterol efflux GO:0033344 9.8 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
18 positive regulation of cholesterol esterification GO:0010873 9.79 APOA1 APOA2 APOE
19 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOA2 APOE
20 very-low-density lipoprotein particle remodeling GO:0034372 9.78 APOE CETP LCAT
21 regulation of Cdc42 protein signal transduction GO:0032489 9.77 ABCA1 APOA1 APOE
22 lipid homeostasis GO:0055088 9.71 APOE CETP
23 low-density lipoprotein particle clearance GO:0034383 9.71 APOB NPC1
24 artery morphogenesis GO:0048844 9.71 APOB APOE
25 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
26 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
27 neuron projection regeneration GO:0031102 9.7 APOA1 APOE
28 reverse cholesterol transport GO:0043691 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
29 intracellular cholesterol transport GO:0032367 9.69 ABCA1 ABCG1
30 negative regulation of cholesterol storage GO:0010887 9.69 ABCA1 ABCG1
31 negative regulation of cytokine secretion involved in immune response GO:0002740 9.69 APOA1 APOA2
32 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
33 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
34 regulation of intestinal cholesterol absorption GO:0030300 9.68 APOA1 APOA2
35 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
36 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
37 protein oxidation GO:0018158 9.66 APOA1 APOA2
38 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
39 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
40 lipoprotein biosynthetic process GO:0042158 9.43 ABCA1 APOA1 APOA2 APOB APOE LCAT
41 low-density lipoprotein particle remodeling GO:0034374 9.1 ABCG1 APOA2 APOB APOE CETP LPA
42 transport GO:0006810 10.29 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
43 lipid metabolic process GO:0006629 10.18 ABCA1 APOA1 APOB APOE CETP LCAT
44 lipoprotein metabolic process GO:0042157 10.18 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
45 cholesterol metabolic process GO:0008203 10.11 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
46 cholesterol homeostasis GO:0042632 10.09 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
47 receptor-mediated endocytosis GO:0006898 10.06 ALB APOA1 APOB APOE CETP NPC1
48 lipid transport GO:0006869 10.06 ABCG1 APOA1 APOA2 APOB APOE CETP
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

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.87 ALB APOA1 APOA2 APOB APOE CETP
2 heparin binding GO:0008201 9.74 APOB APOE LPA
3 phospholipid binding GO:0005543 9.73 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 phospholipid transporter activity GO:0005548 9.67 ABCA1 ABCG1 APOA1 CETP
5 lipid transporter activity GO:0005319 9.63 APOA1 APOA2 APOB APOE CETP NPC1
6 phosphatidylcholine binding GO:0031210 9.61 APOA1 APOA2 CETP
7 antioxidant activity GO:0016209 9.58 ALB APOE
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
9 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
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 binding GO:0015485 9.5 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
15 apolipoprotein A-I binding GO:0034186 9.49 ABCA1 LCAT
16 apolipoprotein receptor binding GO:0034190 9.48 APOA1 APOA2
17 high-density lipoprotein particle receptor binding GO:0070653 9.46 APOA1 APOA2
18 cholesterol transporter activity GO:0017127 9.17 ABCA1 ABCG1 APOA1 APOA2 APOB APOE

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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