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 58 12 77 54 26 60 76 38 30 13 56 6 45 15 41 74
Analphalipoproteinemia 58 26 60 76
Familial High Density Lipoprotein Deficiency Disease 54 26
High Density Lipoprotein Deficiency, Tangier Type 58 54
Alpha High Density Lipoprotein Deficiency Disease 54 26
Familial High Density Lipoprotein Deficiency 12 6
High Density Lipoprotein Deficiency, Type 1 58 54
Hdl Lipoprotein Deficiency Disease 54 26
Familial Hypoalphalipoproteinemia 12 26
a-Alphalipoprotein Neuropathy 54 26
Cholesterol Thesaurismosis 54 26
Tangier Disease Neuropathy 26 74
Hdldt1 58 54
Tgd 58 76
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 60
High Density Lipoprotein Deficiency, Type 1; Hdldt1 58
Atp-Binding Cassette Transporter A1 Deficiency 60
Lipoprotein Deficiency Disease, Hdl, Familial 26
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 76
Hypoalphalipoproteinemia, Familial 74
Familial Hypoalphalipo-Proteinemia 54
Tangier Hereditary Neuropathy 26
Tangier Disease, Variant 6
Familial Hdl Deficiency 74
Analphalipo-Proteinemia 54
Hdld1 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tangier Disease

Genetics Home Reference : 26 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

MalaCards based summary : Tangier Disease, also known as analphalipoproteinemia, is related to fish-eye disease and hypoalphalipoproteinemia, primary, 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 tonsil, lymph node and spleen, and related phenotypes are hypertriglyceridemia and hypocholesterolemia

NIH Rare Diseases : 54 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 : 58 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 : 76 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 : 77 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or hypoalphalipoproteinemia is an... 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 fish-eye disease 30.4 APOA1 APOA2 LCAT
2 hypoalphalipoproteinemia, primary 30.3 ABCA1 APOA1 APOA2 APOB CETP LCAT
3 coronary artery anomaly 29.6 APOA1 APOB CETP LPA
4 heart disease 29.4 ABCA1 ALB APOA1 APOB APOE
5 coronary heart disease 1 28.8 ABCA1 APOA1 APOA2 APOB APOE CETP
6 arteries, anomalies of 28.4 ABCA1 ALB APOA1 APOB APOE CETP
7 catel-manzke syndrome 11.5
8 neuropathy 10.4
9 apo a-i deficiency 10.3 APOA1 LCAT
10 syringomyelia 10.3
11 hepatic lipase deficiency 10.3 APOA1 APOE
12 cerebral atherosclerosis 10.2 APOA1 APOE
13 hereditary amyloidosis 10.2 APOA1 APOA2
14 peripheral nervous system disease 10.2
15 amyloidosis aa 10.1 APOA1 LCAT LPA
16 epidermoid cysts 10.1
17 generalized atherosclerosis 10.1 APOE PLTP
18 polyneuropathy 10.1
19 amyloidosis, familial visceral 10.1 APOA1 APOA2 LPA
20 kwashiorkor 10.0 ALB LCAT
21 xanthoma disseminatum 10.0 APOB APOE
22 werner syndrome 10.0
23 stroke, ischemic 10.0
24 malaria 10.0
25 hemorrhage, intracerebral 10.0
26 male infertility 10.0
27 peripheral artery disease 10.0
28 infertility 10.0
29 amyloid neuropathy 10.0
30 lewis-sumner syndrome 10.0
31 hypercholesterolemia, autosomal dominant, type b 9.9 APOB APOE
32 aortic atherosclerosis 9.9 ABCA1 APOE CETP LPA
33 vitamin e, familial isolated deficiency of 9.9 ABCA1 APOA1 APOB
34 fetal macrosomia 9.9 APOA1 APOB LCAT
35 hyperlipoproteinemia, type v 9.9 APOA1 APOB APOE
36 dysbaric osteonecrosis 9.9 APOA1 APOB
37 hyperlipoproteinemia, type iv 9.9 APOA2 APOB
38 defective apolipoprotein b-100 9.9 APOB APOE LCAT
39 ischemic heart disease 9.9 APOA1 APOB APOE
40 sea-blue histiocyte disease 9.8 APOB APOE LCAT
41 schnyder corneal dystrophy 9.8 APOA2 APOB APOE
42 niemann-pick disease, type b 9.8 ABCA1 APOA1 LCAT LPA NPC1
43 inherited metabolic disorder 9.8 APOA1 APOB NPC1
44 cerebrovascular disease 9.8 APOA1 APOB APOE
45 xanthomatosis 9.8 APOB APOE LPA
46 homozygous familial hypercholesterolemia 9.7 APOB APOE
47 familial lcat deficiency 9.7 ALB APOA1 APOA2 APOE LCAT
48 hypertriglyceridemia, familial 9.7 APOA1 APOB APOE CETP
49 gallbladder disease 9.7 APOA1 APOB APOE CETP
50 hyperlipidemia, familial combined 9.7 APOA1 APOA2 APOB LPA

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



Diseases related to Tangier Disease

Symptoms & Phenotypes for Tangier Disease

Human phenotypes related to Tangier Disease:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
2 hypocholesterolemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003146
3 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
4 nail dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008404
5 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
6 ectropion 60 33 frequent (33%) Frequent (79-30%) HP:0000656
7 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
8 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
9 hepatosplenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001433
10 accelerated atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0004943
11 chronic noninfectious lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002730
12 progressive peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007133
13 coronary artery stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0005145
14 orange discoloured tonsils 60 33 frequent (33%) Frequent (79-30%) HP:0030814
15 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
16 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
17 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
18 left ventricular hypertrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001712
19 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
20 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
21 carotid artery stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100546
22 impaired thermal sensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0006901
23 splenomegaly 33 HP:0001744
24 hepatomegaly 33 HP:0002240
25 visual impairment 33 HP:0000505
26 myocardial infarction 33 HP:0001658
27 opacification of the corneal stroma 33 HP:0007759
28 impaired pain sensation 33 HP:0007328
29 hyporeflexia 33 HP:0001265
30 nail dysplasia 33 HP:0002164
31 peripheral demyelination 33 HP:0011096
32 distal amyotrophy 33 HP:0003693
33 impaired temperature sensation 33 HP:0010829
34 cicatricial ectropion 33 HP:0025608
35 coronary artery atherosclerosis 33 HP:0001677
36 decreased hdl cholesterol concentration 33 HP:0003233

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Tangier Disease:


dry skin

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ABCA1 ABCG1 ALB APOA1 APOB APOE
2 homeostasis/metabolism MP:0005376 9.85 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
3 endocrine/exocrine gland MP:0005379 9.8 ABCA1 ALB APOA1 APOE LCAT NPC1
4 liver/biliary system MP:0005370 9.56 ABCA1 ABCG1 ALB APOA1 APOB APOE
5 vision/eye MP:0005391 9.02 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 CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases Terminated NCT02697136 Phase 3 CER-001;Placebo
6 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
7 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 Tangier Disease 30 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

42
Tonsil, Lymph Node, Spleen, Skin, Colon, Testes, Eye

Publications for Tangier Disease

Articles related to Tangier Disease:

(show top 50) (show all 206)
# Title Authors Year
1
Nerve high resolution ultrasonography in Tangier disease. ( 30680752 )
2019
2
Unusual yellow scaly colonic mucosal appearance: Tangier disease. ( 29352969 )
2018
3
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved. ( 29198592 )
2018
4
Peripheral neuropathy in Tangier disease: A literature review and assessment. ( 29582519 )
2018
5
Accelerated Atherogenicity in Tangier Disease. ( 29563393 )
2018
6
Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report. ( 30278532 )
2018
7
Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. ( 30361172 )
2018
8
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family. ( 30503498 )
2018
9
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
10
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
11
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
12
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
13
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
14
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
15
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
16
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
17
Tangier disease in a Turkish family. ( 25335997 )
2014
18
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
19
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
20
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
21
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
22
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
23
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
24
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
25
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
26
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
27
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
28
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
29
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
30
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
31
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
32
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
33
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
34
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
35
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
36
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
37
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
38
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
39
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
40
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
41
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
42
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
43
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
44
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
45
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
46
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
47
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
48
Tangier disease: still more questions than answers. ( 16235041 )
2005
49
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
50
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004

Variations for Tangier Disease

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

76 (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 rs132299856
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 397)
# 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.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh37 Chromosome 9, 107593274: 107593274
8 ABCA1 NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs) deletion Pathogenic rs387906413 GRCh38 Chromosome 9, 104830993: 104830993
9 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh37 Chromosome 9, 107584801: 107584801
10 ABCA1 NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser) single nucleotide variant Pathogenic rs28937313 GRCh38 Chromosome 9, 104822520: 104822520
11 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh37 Chromosome 9, 107584795: 107584795
12 ABCA1 NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val) single nucleotide variant Pathogenic rs137854495 GRCh38 Chromosome 9, 104822514: 104822514
13 ABCA1 NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser) single nucleotide variant Uncertain significance rs137854496 GRCh37 Chromosome 9, 107593329: 107593329
14 ABCA1 NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser) single nucleotide variant Uncertain significance rs137854496 GRCh38 Chromosome 9, 104831048: 104831048
15 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh38 Chromosome 9, 104831740: 104831753
16 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh37 Chromosome 9, 107594021: 107594034
17 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
18 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh38 Chromosome 9, 104818781: 104818782
19 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
20 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh38 Chromosome 9, 104786940: 104786940
21 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic rs1554714092 GRCh37 Chromosome 9, 107584880: 107584880
22 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic rs1554714092 GRCh38 Chromosome 9, 104822599: 104822599
23 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh37 Chromosome 9, 107566949: 107566949
24 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh38 Chromosome 9, 104804668: 104804668
25 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802
26 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521
27 ABCA1 NG_007981.1 indel Pathogenic
28 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh37 Chromosome 9, 107560785: 107560785
29 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh38 Chromosome 9, 104798504: 104798504
30 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
31 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh38 Chromosome 9, 104814154: 104814154
32 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
33 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh38 Chromosome 9, 104831098: 104831098
34 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant Benign rs2230806 GRCh37 Chromosome 9, 107620867: 107620867
35 ABCA1 NM_005502.3(ABCA1): c.656G> A (p.Arg219Lys) single nucleotide variant Benign rs2230806 GRCh38 Chromosome 9, 104858586: 104858586
36 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
37 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh38 Chromosome 11, 116837134: 116837134
38 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh37 Chromosome 9, 107543284: 107543284
39 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh38 Chromosome 9, 104781003: 104781003
40 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh37 Chromosome 9, 107543342: 107543342
41 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh38 Chromosome 9, 104781061: 104781061
42 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh37 Chromosome 9, 107543509: 107543509
43 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh38 Chromosome 9, 104781228: 104781228
44 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh37 Chromosome 9, 107543567: 107543567
45 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh38 Chromosome 9, 104781286: 104781286
46 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh37 Chromosome 9, 107543891: 107543891
47 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh38 Chromosome 9, 104781610: 104781610
48 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh37 Chromosome 9, 107544685: 107544685
49 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh38 Chromosome 9, 104782404: 104782404
50 ABCA1 NM_005502.3(ABCA1): c.*1896G> A single nucleotide variant Benign rs363717 GRCh37 Chromosome 9, 107544700: 107544700

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:

38
# 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 11.54 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 15)
# 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 9.84 APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.78 ALB 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 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
7 spherical high-density lipoprotein particle GO:0034366 9.52 APOA1 APOA2
8 discoidal high-density lipoprotein particle GO:0034365 9.49 APOA1 APOE
9 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOA2 APOB APOE
10 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
11 chylomicron GO:0042627 9.26 APOA1 APOA2 APOB APOE
12 high-density lipoprotein particle GO:0034364 9.1 APOA1 APOA2 APOE CETP LCAT PLTP
13 extracellular space GO:0005615 10.11 ALB APOA1 APOA2 APOB APOE CETP
14 extracellular exosome GO:0070062 10.09 ALB APOA1 APOA2 APOB APOE CETP
15 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 53)
# 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 positive regulation of cholesterol efflux GO:0010875 9.88 ABCA1 ABCG1 APOE PLTP
9 high-density lipoprotein particle assembly GO:0034380 9.88 ABCA1 APOA1 APOA2 APOE
10 regulation of lipid metabolic process GO:0019216 9.87 ABCA1 APOA1 APOA2
11 chylomicron assembly GO:0034378 9.87 APOA1 APOA2 APOB APOE
12 phospholipid homeostasis GO:0055091 9.86 ABCA1 ABCG1 APOA1 CETP
13 cholesterol transport GO:0030301 9.86 ABCA1 ABCG1 APOA1 APOA2 APOB CETP
14 very-low-density lipoprotein particle remodeling GO:0034372 9.85 APOA1 APOE CETP LCAT
15 lipoprotein biosynthetic process GO:0042158 9.85 ABCA1 APOA1 APOB APOE LCAT
16 chylomicron remodeling GO:0034371 9.84 APOA1 APOA2 APOB APOE
17 triglyceride metabolic process GO:0006641 9.83 APOA2 APOE CETP
18 triglyceride homeostasis GO:0070328 9.83 APOA1 APOE CETP
19 phosphatidylcholine biosynthetic process GO:0006656 9.82 APOA1 APOA2 LCAT
20 triglyceride catabolic process GO:0019433 9.81 APOA1 APOB APOE
21 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.8 ABCA1 ABCG1 CETP
22 high-density lipoprotein particle clearance GO:0034384 9.79 APOA1 APOA2 APOE
23 intracellular cholesterol transport GO:0032367 9.79 ABCA1 ABCG1 NPC1
24 positive regulation of cholesterol esterification GO:0010873 9.78 APOA1 APOA2 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.77 ABCA1 APOA1 APOE
26 high-density lipoprotein particle remodeling GO:0034375 9.76 ABCG1 ALB APOA1 APOA2 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 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOA1 APOE
31 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
32 phosphatidylcholine metabolic process GO:0046470 9.7 CETP LCAT
33 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
34 negative regulation of cholesterol storage GO:0010887 9.69 ABCA1 ABCG1
35 regulation of cholesterol transport GO:0032374 9.69 APOA1 APOE
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 protein oxidation GO:0018158 9.67 APOA1 APOA2
42 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
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 9.64 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 lipid metabolic process GO:0006629 10.18 ABCA1 APOA1 APOB APOE CETP LCAT
48 lipid transport GO:0006869 10.1 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
49 post-translational protein modification GO:0043687 10.05 ALB APOA1 APOA2 APOB APOE
50 steroid metabolic process GO:0008202 10.05 ABCA1 APOA1 APOB APOE CETP LCAT

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 9.85 ALB APOA1 APOA2 APOE CETP PLTP
2 phospholipid binding GO:0005543 9.8 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
3 heparin binding GO:0008201 9.74 APOB APOE LPA
4 cholesterol binding GO:0015485 9.7 ABCA1 ABCG1 APOA1 APOA2 APOE CETP
5 phospholipid transporter activity GO:0005548 9.65 ABCA1 ABCG1 APOA1 CETP PLTP
6 phosphatidylcholine binding GO:0031210 9.63 APOA2 CETP PLTP
7 high-density lipoprotein particle binding GO:0008035 9.61 ABCA1 APOA1 APOA2
8 antioxidant activity GO:0016209 9.58 ALB APOE
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
10 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
11 lipid transporter activity GO:0005319 9.56 ABCA1 APOA1 APOA2 APOB APOE CETP
12 apolipoprotein binding GO:0034185 9.55 ABCA1 LPA
13 lipase inhibitor activity GO:0055102 9.54 APOA1 APOA2
14 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
15 apolipoprotein A-I binding GO:0034186 9.51 ABCA1 LCAT
16 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
17 high-density lipoprotein particle receptor binding GO:0070653 9.48 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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