MCID: TNG002
MIFTS: 65

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 53 12 72 49 24 55 71 36 28 13 51 41 14 69
Analphalipoproteinemia 53 24 55 71
Familial High Density Lipoprotein Deficiency Disease 49 24
High Density Lipoprotein Deficiency, Tangier Type 53 49
Alpha High Density Lipoprotein Deficiency Disease 49 24
High Density Lipoprotein Deficiency, Type 1 53 49
Hdl Lipoprotein Deficiency Disease 49 24
Familial Hypoalphalipoproteinemia 12 24
a-Alphalipoprotein Neuropathy 49 24
Cholesterol Thesaurismosis 49 24
Tangier Disease Neuropathy 24 69
Hdldt1 53 49
Tgd 53 71
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 55
High Density Lipoprotein Deficiency, Type 1; Hdldt1 53
Atp-Binding Cassette Transporter A1 Deficiency 55
Lipoprotein Deficiency Disease, Hdl, Familial 24
Familial High Density Lipoprotein Deficiency 12
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 71
Hypoalphalipoproteinemia, Familial 69
Familial Hypoalphalipo-Proteinemia 49
Tangier Hereditary Neuropathy 24
Familial Hdl Deficiency 69
Analphalipo-Proteinemia 49
Hdld1 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tangier Disease

Genetics Home Reference : 24 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 apo a-i deficiency and fish-eye disease, 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 ABC transporters and Metabolism. 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

OMIM : 53 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)

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.

NIH Rare Diseases : 49 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

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:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 apo a-i deficiency 30.3 APOA1 LCAT
2 fish-eye disease 30.2 APOA1 APOA2 LCAT
3 hypoalphalipoproteinemia, primary 30.2 ABCA1 APOA1 APOA2 APOB CETP LCAT
4 hypolipoproteinemia 29.1 ABCA1 APOA1 APOA2 APOB APOE LCAT
5 hypertriglyceridemia, familial 29.0 APOA1 APOB APOE CETP
6 coronary heart disease 1 28.4 APOA1 APOA2 APOB APOE CETP LCAT
7 arteries, anomalies of 27.7 ABCA1 ALB APOA1 APOB APOE CETP
8 catel-manzke syndrome 11.3
9 sea-blue histiocyte disease 10.3 APOE LCAT
10 hepatic lipase deficiency 10.3 APOA1 APOE
11 cerebral atherosclerosis 10.3 APOA1 APOE
12 hereditary amyloidosis 10.3 APOA1 APOA2
13 neuropathy 10.2
14 amyloidosis aa 10.2 APOA1 LCAT LPA
15 generalized atherosclerosis 10.1 APOE PLTP
16 amyloidosis, familial visceral 10.1 APOA1 APOA2 LPA
17 niemann-pick disease 10.1 ABCA1 LCAT NPC1
18 syringomyelia 10.1
19 kwashiorkor 10.0 ALB LCAT
20 heart disease 10.0
21 xanthoma disseminatum 10.0 APOB APOE
22 aortic atherosclerosis 9.9 ABCA1 APOE CETP LPA
23 hypercholesterolemia, autosomal dominant, type b 9.9 APOB APOE
24 blood group, i system 9.9
25 leprosy 3 9.9
26 mucositis 9.9
27 polyneuropathy 9.9
28 dysbaric osteonecrosis 9.9 APOA1 APOB
29 vitamin e, familial isolated deficiency of 9.9 ABCA1 APOA1 APOB
30 fetal macrosomia 9.8 APOA1 APOB LCAT
31 defective apolipoprotein b-100 9.8 APOB APOE LCAT
32 ischemic heart disease 9.8 APOA1 APOB APOE
33 hyperlipidemia, familial combined 9.8 APOA1 APOB APOE
34 schnyder corneal dystrophy 9.8 APOA2 APOB APOE
35 homozygous familial hypercholesterolemia 9.8 APOB APOE
36 werner syndrome 9.8
37 malaria 9.8
38 hypertriglyceridemia, transient infantile 9.8
39 male infertility 9.8
40 peripheral artery disease 9.8
41 tonsillitis 9.8
42 pancreatitis 9.8
43 infertility 9.8
44 neuronitis 9.8
45 amyloid neuropathy 9.8
46 lewis-sumner syndrome 9.8
47 cerebrovascular disease 9.7 APOA1 APOB APOE
48 xanthomatosis 9.7 APOB APOE LPA
49 inherited metabolic disorder 9.7 APOA1 APOB NPC1
50 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOB APOE LCAT

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:

53
SkinNailsHairSkin:
dry skin

AbdomenLiver:
hepatomegaly

CardiovascularHeart:
myocardial infarction
left ventricular hypertrophy
heart disease, premature

CardiovascularVascular:
atherosclerosis
coronary artery disease, premature

HeadAndNeckFace:
facial diplegia due to peripheral neuropathy

SkinNailsHairHair:
distal loss of facial hair

Neurologic:
syringomyelia-like syndrome

AbdomenSpleen:
splenomegaly

HeadAndNeckEyes:
visual impairment
corneal opacities
decreased corneal sensation due to peripheral neuropathy
cicatricial ectropion
incomplete eyelid closure
more
NeurologicPeripheralNervousSystem:
hyporeflexia
peripheral axonal neuropathy
pain and temperature sensation loss
nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons

SkinNailsHairNails:
dystrophic nails

HeadAndNeckMouth:
enlarged, yellow-orange tonsils

MuscleSoftTissue:
distal muscle atrophy due to peripheral neuropathy

LaboratoryAbnormalities:
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:

55 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
2 hepatosplenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001433
3 dry skin 55 31 frequent (33%) Frequent (79-30%) HP:0000958
4 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
5 hypertriglyceridemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002155
6 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
7 nail dystrophy 55 31 frequent (33%) Frequent (79-30%) HP:0008404
8 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
9 left ventricular hypertrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001712
10 ectropion 55 31 frequent (33%) Frequent (79-30%) HP:0000656
11 distal muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0002460
12 hypocholesterolemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003146
13 syringomyelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003396
14 peripheral axonal neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0003477
15 carotid artery stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100546
16 accelerated atherosclerosis 55 31 frequent (33%) Frequent (79-30%) HP:0004943
17 chronic noninfectious lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002730
18 progressive peripheral neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0007133
19 coronary artery stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0005145
20 orange discoloured tonsils 55 31 frequent (33%) Frequent (79-30%) HP:0030814
21 facial diplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001349
22 impaired thermal sensitivity 55 31 occasional (7.5%) Occasional (29-5%) HP:0006901
23 splenomegaly 31 HP:0001744
24 hepatomegaly 31 HP:0002240
25 visual impairment 31 HP:0000505
26 myocardial infarction 31 HP:0001658
27 opacification of the corneal stroma 31 HP:0007759
28 impaired pain sensation 31 HP:0007328
29 nail dysplasia 31 HP:0002164
30 hyporeflexia 31 HP:0001265
31 peripheral demyelination 31 HP:0011096
32 distal amyotrophy 31 HP:0003693
33 impaired temperature sensation 31 HP:0010829
34 coronary artery atherosclerosis 31 HP:0001677
35 decreased circulating high-density lipoprotein levels 31 HP:0003233

UMLS symptoms related to Tangier Disease:


dry skin

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 ABCA1 ABCG1 ALB APOA1 APOB APOE
2 endocrine/exocrine gland MP:0005379 9.7 ABCA1 ALB APOA1 APOE LCAT NPC1
3 homeostasis/metabolism MP:0005376 9.65 APOA1 APOA2 APOB APOE LCAT NPC1
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):


# 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:


# 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 Adiponectin and Inflammation Among Overweight and Obese Children Completed NCT01886495 Phase 3
3 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 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:

# Genetic test Affiliating Genes
1 Tangier Disease 28 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

38
Liver, Tonsil, Heart, Lymph Node, Spleen, Skin, Testes

Publications for Tangier Disease

Articles related to Tangier Disease:

(show top 50) (show all 198)
# Title Authors Year
1
Unusual yellow scaly colonic mucosal appearance: Tangier disease. ( 29352969 )
2018
2
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. ( 29198592 )
2018
3
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
4
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
5
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
6
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
7
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
8
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
9
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
10
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
11
Tangier disease in a Turkish family. ( 25335997 )
2014
12
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
13
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
14
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
15
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
16
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
17
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
18
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
19
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
20
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
21
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
22
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
23
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
24
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
25
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
26
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
27
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
28
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
29
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
30
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
31
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
32
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
33
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
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
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
37
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
38
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
39
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
40
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
41
Tangier disease: still more questions than answers. ( 16235041 )
2005
42
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
43
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004
44
Tangier disease--a diagnostic challenge in countries endemic for leprosy. ( 14742612 )
2004
45
Tangier disease. ( 15314143 )
2004
46
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
47
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
48
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. ( 15384103 )
2004
49
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. ( 15502486 )
2004
50
Tonsil with Tangier disease. ( 12696235 )
2003

Variations for Tangier Disease

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

71 (show all 26)
# 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 rs1055285452High
25 ABCA1 p.Arg1901Ser VAR_062504
26 ABCA1 p.Gln2196His VAR_062507 rs564764153

ClinVar genetic disease variations for Tangier Disease:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
2 ABCA1 NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg) single nucleotide variant Pathogenic rs137854494 GRCh37 Chromosome 9, 107568557: 107568557
3 ABCA1 NM_005502.3(ABCA1): c.3738+1G> C single nucleotide variant Pathogenic rs796051872 GRCh37 Chromosome 9, 107578423: 107578423
4 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh37 Chromosome 9, 107593308: 107593308
5 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh37 Chromosome 9, 107591230: 107591232
6 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh37 Chromosome 9, 107593274: 107593274
7 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh38 Chromosome 9, 104822520: 104822520
8 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh37 Chromosome 9, 107584795: 107584795
9 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh38 Chromosome 9, 104831740: 104831753
10 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
11 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh37 Chromosome 9, 107584880: 107584880
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 KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 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
12.11 APOA1 APOA2 APOB APOE
5
Show member pathways
12.05 ABCA1 ALB APOA1 APOB APOE
6 11.84 ALB APOA1 APOE PLCG1
7
Show member pathways
11.69 ALB APOA1 APOB APOE
8 11.53 APOA1 APOA2 PLTP
9
Show member pathways
11.39 ABCA1 APOA1 APOA2 APOB APOE CETP
10
Show member pathways
11.28 ABCA1 APOA1 APOB
11 11 APOA1 APOA2 PLTP
12 10.92 ABCA1 CETP
13 10.9 APOA1 APOB
14 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 14)
# 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 discoidal high-density lipoprotein particle GO:0034365 9.46 APOA1 APOE
8 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOA2 APOB APOE
9 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
10 chylomicron GO:0042627 9.26 APOA1 APOA2 APOB APOE
11 high-density lipoprotein particle GO:0034364 9.17 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:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.98 ALB APOA1 APOB APOE
2 cholesterol metabolic process GO:0008203 9.97 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
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 transport GO:0015914 9.9 ABCA1 APOA1 CETP PLTP
7 phospholipid efflux GO:0033700 9.89 ABCA1 ABCG1 APOA1 APOA2 APOE
8 regulation of lipid metabolic process GO:0019216 9.88 ABCA1 APOA1 APOA2
9 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
10 high-density lipoprotein particle assembly GO:0034380 9.87 ABCA1 APOA1 APOA2 APOE
11 chylomicron assembly GO:0034378 9.86 APOA1 APOA2 APOB APOE
12 cholesterol transport GO:0030301 9.86 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
13 phospholipid homeostasis GO:0055091 9.85 ABCA1 ABCG1 APOA1 CETP
14 lipoprotein biosynthetic process GO:0042158 9.85 ABCA1 APOA1 APOB APOE LCAT
15 triglyceride metabolic process GO:0006641 9.84 APOA2 APOE CETP
16 chylomicron remodeling GO:0034371 9.84 APOA1 APOA2 APOB APOE
17 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
18 triglyceride homeostasis GO:0070328 9.82 APOA1 APOE CETP
19 triglyceride catabolic process GO:0019433 9.81 APOA1 APOB APOE
20 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.8 ABCA1 ABCG1 CETP
21 positive regulation of cholesterol esterification GO:0010873 9.79 APOA1 APOA2 APOE
22 high-density lipoprotein particle clearance GO:0034384 9.78 APOA1 APOA2 APOE
23 regulation of Cdc42 protein signal transduction GO:0032489 9.77 ABCA1 APOA1 APOE
24 very-low-density lipoprotein particle remodeling GO:0034372 9.76 APOE CETP LCAT
25 high-density lipoprotein particle remodeling GO:0034375 9.76 ABCG1 ALB APOA1 APOA2 APOE CETP
26 lipid homeostasis GO:0055088 9.72 APOE CETP
27 low-density lipoprotein particle clearance GO:0034383 9.71 APOB NPC1
28 artery morphogenesis GO:0048844 9.71 APOB APOE
29 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.71 ABCA1 NPC1
30 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
31 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
32 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
33 neuron projection regeneration GO:0031102 9.7 APOA1 APOE
34 intracellular cholesterol transport GO:0032367 9.69 ABCA1 ABCG1
35 negative regulation of cholesterol storage GO:0010887 9.69 ABCA1 ABCG1
36 negative regulation of cytokine secretion involved in immune response GO:0002740 9.69 APOA1 APOA2
37 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
38 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
39 regulation of intestinal cholesterol absorption GO:0030300 9.68 APOA1 APOA2
40 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
41 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
42 protein oxidation GO:0018158 9.66 APOA1 APOA2
43 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
44 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
45 cholesterol efflux GO:0033344 9.5 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
46 reverse cholesterol transport GO:0043691 9.17 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
47 transport GO:0006810 10.29 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
48 lipid metabolic process GO:0006629 10.18 ABCA1 APOA1 APOB APOE CETP LCAT
49 lipid transport GO:0006869 10.06 ABCG1 APOA1 APOA2 APOB APOE CETP
50 post-translational protein modification GO:0043687 10.05 ALB APOA1 APOA2 APOB APOE

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

(show all 18)
# 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 phosphatidylcholine binding GO:0031210 9.71 APOA1 APOA2 CETP PLTP
5 cholesterol binding GO:0015485 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
6 phospholipid transporter activity GO:0005548 9.65 ABCA1 ABCG1 APOA1 CETP PLTP
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOA1 APOA2 APOE
8 antioxidant activity GO:0016209 9.58 ALB 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 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 9.17 APOA1 APOA2 APOB APOE CETP NPC1

Sources for Tangier Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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