HDLD1
MCID: TNG002
MIFTS: 64

Tangier Disease (HDLD1)

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

Aliases & Classifications for Tangier Disease

MalaCards integrated aliases for Tangier Disease:

Name: Tangier Disease 57 12 76 53 25 59 75 37 29 13 55 6 44 15 40 73
Familial Hypoalphalipoproteinemia 12 25 29 6
Analphalipoproteinemia 57 25 59 75
Familial High Density Lipoprotein Deficiency Disease 53 25
High Density Lipoprotein Deficiency, Tangier Type 57 53
Alpha High Density Lipoprotein Deficiency Disease 53 25
Familial High Density Lipoprotein Deficiency 12 6
High Density Lipoprotein Deficiency, Type 1 57 53
Hdl Lipoprotein Deficiency Disease 53 25
a-Alphalipoprotein Neuropathy 53 25
Cholesterol Thesaurismosis 53 25
Tangier Disease Neuropathy 25 73
Hdldt1 57 53
Tgd 57 75
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 59
High Density Lipoprotein Deficiency, Type 1; Hdldt1 57
Atp-Binding Cassette Transporter A1 Deficiency 59
Lipoprotein Deficiency Disease, Hdl, Familial 25
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 75
Hypoalphalipoproteinemia, Familial 73
Familial Hypoalphalipo-Proteinemia 53
Tangier Hereditary Neuropathy 25
Tangier Disease, Variant 6
Familial Hdl Deficiency 73
Analphalipo-Proteinemia 53
Hdld1 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 familial hypoalphalipoproteinemia, is related to hypoalphalipoproteinemia, primary and fish-eye disease, and has symptoms including 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 corneal opacity and hypertriglyceridemia

NIH Rare Diseases : 53 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.

OMIM : 57 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 : 75 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 : 76 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 75)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary 31.0 ABCA1 APOA1 APOA2 APOB CETP LCAT
2 fish-eye disease 30.3 APOA1 APOA2 LCAT
3 heart disease 29.9 ABCA1 APOA1 APOB APOE LPL
4 coronary artery anomaly 29.7 APOA1 APOB CETP LPA LPL
5 arteries, anomalies of 29.4 ABCA1 APOA1 APOB APOE CETP LPA
6 coronary heart disease 1 29.1 ABCA1 APOA1 APOA2 APOB APOE CETP
7 catel-manzke syndrome 11.5
8 neuropathy 10.4
9 syringomyelia 10.3
10 apo a-i deficiency 10.2 APOA1 LCAT
11 peripheral nervous system disease 10.2
12 cerebral atherosclerosis 10.1 APOA1 APOE
13 hereditary amyloidosis 10.1 APOA1 APOA2
14 epidermoid cysts 10.1
15 amyloidosis aa 10.1 APOA1 LCAT LPA
16 polyneuropathy 10.1
17 amyloidosis, familial visceral 10.1 APOA1 APOA2 LPA
18 xanthoma disseminatum 10.0 APOB APOE
19 hypercholesterolemia, autosomal dominant, type b 10.0 APOB APOE
20 hepatic lipase deficiency 10.0 APOA1 APOE LPL
21 recurrent acute pancreatitis 10.0 APOE LPL
22 familial lcat deficiency 10.0 APOA1 APOA2 APOE LCAT
23 vitamin e, familial isolated deficiency of 10.0 ABCA1 APOA1 APOB
24 fetal macrosomia 10.0 APOA1 APOB LCAT
25 defective apolipoprotein b-100 10.0 APOB APOE LCAT
26 aortic atherosclerosis 10.0 ABCA1 APOE CETP LPA
27 dysbaric osteonecrosis 10.0 APOA1 APOB
28 sea-blue histiocyte disease 10.0 APOB APOE LCAT
29 schnyder corneal dystrophy 10.0 APOA2 APOB APOE
30 generalized atherosclerosis 9.9 APOE PLTP
31 hyperlipidemia, combined, 1 9.9 APOB LPL
32 werner syndrome 9.9
33 stroke, ischemic 9.9
34 malaria 9.9
35 male infertility 9.9
36 peripheral artery disease 9.9
37 infertility 9.9
38 amyloid neuropathy 9.9
39 lewis-sumner syndrome 9.9
40 peripheral vascular disease 9.9 APOA1 APOB LPA
41 cerebrovascular disease 9.9 APOA1 APOB APOE
42 inherited metabolic disorder 9.9 APOA1 APOB NPC1
43 homozygous familial hypercholesterolemia 9.9 APOB APOE
44 hyperlipoproteinemia, type iv 9.9 APOA2 APOB LPL
45 niemann-pick disease, type b 9.9 ABCA1 APOA1 LCAT LPA NPC1
46 coronary stenosis 9.9 APOA1 APOB APOE CETP
47 gallbladder disease 9.9 APOA1 APOB APOE CETP
48 chylomicron retention disease 9.9 APOA1 APOB
49 carotid artery disease 9.9 APOA1 APOB APOE LPA
50 macular degeneration, age-related, 1 9.8 ABCA1 APOB APOE CETP

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:

57
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
visual impairment
corneal opacities
decreased corneal sensation due to peripheral neuropathy
cicatricial ectropion
incomplete eyelid closure
more
Skin Nails Hair Skin:
dry skin

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

Neurologic:
syringomyelia-like syndrome

Abdomen Liver:
hepatomegaly

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

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

Skin Nails Hair Nails:
dystrophic nails

Head And Neck Mouth:
enlarged, yellow-orange tonsils

Muscle Soft Tissue:
distal muscle atrophy due to peripheral neuropathy

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:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
2 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
3 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
5 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
6 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
7 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
8 left ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001712
9 ectropion 59 32 frequent (33%) Frequent (79-30%) HP:0000656
10 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
11 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
12 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
13 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
14 hypocholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003146
15 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
16 carotid artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100546
17 accelerated atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004943
18 chronic noninfectious lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002730
19 progressive peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007133
20 coronary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0005145
21 orange discoloured tonsils 59 32 frequent (33%) Frequent (79-30%) HP:0030814
22 impaired thermal sensitivity 59 32 occasional (7.5%) 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 peripheral demyelination 32 HP:0011096
32 distal amyotrophy 32 HP:0003693
33 impaired temperature sensation 32 HP:0010829
34 cicatricial ectropion 32 HP:0025608
35 coronary artery atherosclerosis 32 HP:0001677
36 decreased hdl cholesterol concentration 32 HP:0003233

UMLS symptoms related to Tangier Disease:


dry skin

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.61 ABCA1 APOA1 APOB APOE CETP LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Tangier Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 ABCA1 APOA1 APOB APOE LCAT LPL
2 cellular MP:0005384 9.91 ABCA1 ABCG1 APOA1 APOB APOE LPL
3 homeostasis/metabolism MP:0005376 9.85 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 liver/biliary system MP:0005370 9.56 ABCA1 ABCG1 APOA1 APOB APOE LCAT
5 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):


# 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 Not Applicable 58-61-7 60961
4 Pharmaceutical Solutions Not Applicable

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 Not Applicable 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 Familial Hypoalphalipoproteinemia 29 ABCA1 APOA1
2 Tangier Disease 29 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

41
Liver, Tonsil, Heart, Lymph Node, Spleen, Skin, Eye

Publications for Tangier Disease

Articles related to Tangier Disease:

(show top 50) (show all 205)
# 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
Peripheral neuropathy in Tangier disease: A literature review and assessment. ( 29582519 )
2018
4
Accelerated Atherogenicity in Tangier Disease. ( 29563393 )
2018
5
Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report. ( 30278532 )
2018
6
Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. ( 30361172 )
2018
7
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family. ( 30503498 )
2018
8
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
9
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
10
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
11
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
12
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
13
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
14
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
15
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
16
Tangier disease in a Turkish family. ( 25335997 )
2014
17
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
18
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
19
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
20
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
21
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
22
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
23
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
24
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
25
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
26
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
27
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
28
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
29
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
30
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
31
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
32
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
33
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
34
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
35
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
36
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
37
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
38
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
39
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
40
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
41
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
42
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
43
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
44
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
45
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
46
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
47
Tangier disease: still more questions than answers. ( 16235041 )
2005
48
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
49
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
50
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004

Variations for Tangier Disease

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

75 (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 rs105528545
25 ABCA1 p.Arg1901Ser VAR_062504
26 ABCA1 p.Gln2196His VAR_062507 rs564764153

ClinVar genetic disease variations for Tangier Disease:

6 (show top 50) (show all 407)
# 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.4429T> C (p.Cys1477Arg) single nucleotide variant Pathogenic rs137854494 GRCh38 Chromosome 9, 104806276: 104806276
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.3738+1G> C single nucleotide variant Pathogenic rs796051872 GRCh38 Chromosome 9, 104816142: 104816142
5 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh37 Chromosome 9, 107593308: 107593308
6 ABCA1 NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg) single nucleotide variant Pathogenic rs2853578 GRCh38 Chromosome 9, 104831027: 104831027
7 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh37 Chromosome 9, 107591230: 107591232
8 ABCA1 NM_005502.3(ABCA1): c.2080_2082delCTT (p.Leu694del) deletion Pathogenic rs387906412 GRCh38 Chromosome 9, 104828949: 104828951
9 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh37 Chromosome 9, 107593274: 107593274
10 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh38 Chromosome 9, 104830993: 104830993
11 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh37 Chromosome 9, 107584801: 107584801
12 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh38 Chromosome 9, 104822520: 104822520
13 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh37 Chromosome 9, 107584795: 107584795
14 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh38 Chromosome 9, 104822514: 104822514
15 ABCA1 NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser) single nucleotide variant Uncertain significance rs137854496 GRCh37 Chromosome 9, 107593329: 107593329
16 ABCA1 NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser) single nucleotide variant Uncertain significance rs137854496 GRCh38 Chromosome 9, 104831048: 104831048
17 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh38 Chromosome 9, 104831740: 104831753
18 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh37 Chromosome 9, 107594021: 107594034
19 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
20 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh38 Chromosome 9, 104818781: 104818782
21 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
22 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh38 Chromosome 9, 104786940: 104786940
23 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh37 Chromosome 9, 107584880: 107584880
24 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh38 Chromosome 9, 104822599: 104822599
25 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh37 Chromosome 9, 107566949: 107566949
26 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh38 Chromosome 9, 104804668: 104804668
27 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802
28 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521
29 ABCA1 NG_007981.1 indel Pathogenic
30 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh37 Chromosome 9, 107560785: 107560785
31 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh38 Chromosome 9, 104798504: 104798504
32 ABCA1 NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh37 Chromosome 9, 107581111: 107581111
33 ABCA1 NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr) single nucleotide variant Pathogenic rs28933692 GRCh38 Chromosome 9, 104818830: 104818830
34 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh37 Chromosome 9, 107550750: 107550750
35 ABCA1 NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser) single nucleotide variant Pathogenic rs137854499 GRCh38 Chromosome 9, 104788469: 104788469
36 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
37 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh38 Chromosome 9, 104814154: 104814154
38 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh37 Chromosome 9, 107576450: 107576453
39 ABCA1 NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs) deletion Pathogenic rs387906415 GRCh38 Chromosome 9, 104814169: 104814172
40 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
41 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh38 Chromosome 9, 104831098: 104831098
42 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant Benign rs2230806 GRCh37 Chromosome 9, 107620867: 107620867
43 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant Benign rs2230806 GRCh38 Chromosome 9, 104858586: 104858586
44 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
45 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh38 Chromosome 11, 116837134: 116837134
46 APOA1 APOA1, 1-BP INS insertion Pathogenic
47 APOA1 APOA1, IVS2, G-C, +1 single nucleotide variant Pathogenic
48 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh37 Chromosome 9, 107543284: 107543284
49 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh38 Chromosome 9, 104781003: 104781003
50 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh37 Chromosome 9, 107543342: 107543342

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:

37
# 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 APOA1 APOA2 APOB APOE
2
Show member pathways
12.44 APOA1 APOA2 APOB APOE LPL
3
Show member pathways
12.27 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4
Show member pathways
12.11 ABCA1 APOA1 APOB APOE
5
Show member pathways
12.1 APOA1 APOA2 APOB APOE LPL
6 11.79 APOA1 APOE PLCG1
7
Show member pathways
11.69 APOA1 APOB APOE
8 11.49 APOA1 APOA2 LPL PLTP
9
Show member pathways
11.44 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 15)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.83 APOA1 APOA2 APOB APOE
2 early endosome GO:0005769 9.81 APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.71 APOA1 APOA2 APOE
4 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.55 APOB APOE
6 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOE LPL
7 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
8 spherical high-density lipoprotein particle GO:0034366 9.49 APOA1 APOA2
9 discoidal high-density lipoprotein particle GO:0034365 9.43 APOA1 APOE
10 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
11 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOE LPL
12 high-density lipoprotein particle GO:0034364 9.1 APOA1 APOA2 APOE CETP LCAT PLTP
13 extracellular exosome GO:0070062 10.08 APOA1 APOA2 APOB APOE CETP LCAT
14 extracellular space GO:0005615 10.06 APOA1 APOA2 APOB APOE CETP LCAT
15 extracellular region GO:0005576 10.02 APOA1 APOA2 APOB APOE CETP LCAT

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.98 APOA1 APOA2 APOB APOE
2 cholesterol metabolic process GO:0008203 9.97 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
3 lipoprotein metabolic process GO:0042157 9.95 ABCA1 APOA1 APOA2 APOB APOE
4 retinoid metabolic process GO:0001523 9.94 APOA1 APOA2 APOB APOE
5 phospholipid transport GO:0015914 9.92 ABCA1 APOA1 CETP PLTP
6 phospholipid efflux GO:0033700 9.92 ABCA1 ABCG1 APOA1 APOA2 APOE
7 triglyceride metabolic process GO:0006641 9.91 APOA2 APOE CETP LPL
8 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOA1 APOE CETP LCAT LPL
9 low-density lipoprotein particle remodeling GO:0034374 9.91 ABCG1 APOA2 APOB APOE CETP LPA
10 triglyceride homeostasis GO:0070328 9.9 APOA1 APOE CETP LPL
11 lipid catabolic process GO:0016042 9.89 APOB LPL PLCG1
12 triglyceride catabolic process GO:0019433 9.89 APOA1 APOB APOE LPL
13 chylomicron remodeling GO:0034371 9.89 APOA1 APOA2 APOB APOE LPL
14 regulation of lipid metabolic process GO:0019216 9.88 ABCA1 APOA1 APOA2
15 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
16 high-density lipoprotein particle assembly GO:0034380 9.88 ABCA1 APOA1 APOA2 APOE
17 lipoprotein biosynthetic process GO:0042158 9.88 ABCA1 APOA1 APOB APOE LCAT
18 phospholipid metabolic process GO:0006644 9.87 APOA1 LCAT LPL
19 chylomicron assembly GO:0034378 9.87 APOA1 APOA2 APOB APOE
20 phospholipid homeostasis GO:0055091 9.86 ABCA1 ABCG1 APOA1 CETP
21 cholesterol transport GO:0030301 9.86 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
22 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
23 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.82 ABCA1 ABCG1 CETP
24 high-density lipoprotein particle clearance GO:0034384 9.81 APOA1 APOA2 APOE
25 intracellular cholesterol transport GO:0032367 9.8 ABCA1 ABCG1 NPC1
26 positive regulation of cholesterol esterification GO:0010873 9.8 APOA1 APOA2 APOE
27 regulation of Cdc42 protein signal transduction GO:0032489 9.79 ABCA1 APOA1 APOE
28 low-density lipoprotein particle clearance GO:0034383 9.72 APOB NPC1
29 artery morphogenesis GO:0048844 9.72 APOB APOE
30 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.72 ABCA1 NPC1
31 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOA1 APOE
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
33 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
34 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
35 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
36 negative regulation of cholesterol storage GO:0010887 9.7 ABCA1 ABCG1
37 cholesterol efflux GO:0033344 9.7 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
38 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
39 regulation of cholesterol transport GO:0032374 9.69 APOA1 APOE
40 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
41 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
42 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
43 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
44 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
45 protein oxidation GO:0018158 9.67 APOA1 APOA2
46 lipoprotein catabolic process GO:0042159 9.66 APOB APOE
47 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
48 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
49 high-density lipoprotein particle remodeling GO:0034375 9.5 ABCG1 APOA1 APOA2 APOE CETP LCAT
50 reverse cholesterol transport GO:0043691 9.17 ABCA1 ABCG1 APOA1 APOA2 APOE CETP

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 9.88 APOA1 APOA2 APOB APOE CETP PLTP
2 heparin binding GO:0008201 9.84 APOB APOE LPA LPL
3 phospholipid binding GO:0005543 9.8 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 cholesterol binding GO:0015485 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
5 phosphatidylcholine binding GO:0031210 9.65 APOA2 CETP PLTP
6 phospholipid transporter activity GO:0005548 9.65 ABCA1 ABCG1 APOA1 CETP PLTP
7 apolipoprotein binding GO:0034185 9.63 ABCA1 LPA LPL
8 high-density lipoprotein particle binding GO:0008035 9.61 ABCA1 APOA1 APOA2
9 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
10 lipase inhibitor activity GO:0055102 9.57 APOA1 APOA2
11 lipoprotein particle binding GO:0071813 9.56 APOA1 APOE
12 lipid transporter activity GO:0005319 9.56 ABCA1 APOA1 APOA2 APOB APOE CETP
13 apolipoprotein A-I binding GO:0034186 9.55 ABCA1 LCAT
14 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.54 APOA1 APOA2 APOE
15 apolipoprotein receptor binding GO:0034190 9.52 APOA1 APOA2
16 high-density lipoprotein particle receptor binding GO:0070653 9.51 APOA1 APOA2
17 triglyceride binding GO:0017129 9.49 CETP LPL
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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