MCID: TNG002
MIFTS: 64

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 57 12 76 53 25 59 75 37 29 13 55 6 44 15 40 73
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
Familial Hypoalphalipoproteinemia 12 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 analphalipoproteinemia, is related to apo a-i deficiency 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

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.

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.

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 74)
# Related Disease Score Top Affiliating Genes
1 apo a-i deficiency 30.7 APOA1 LCAT
2 fish-eye disease 30.5 APOA1 APOA2 LCAT
3 heart disease 28.4 ABCA1 APOA1 APOB APOE LPL
4 arteries, anomalies of 28.0 ABCA1 APOA1 APOB APOE CETP LPA
5 hypolipoproteinemia 27.6 ABCA1 APOA1 APOA2 APOB APOE LCAT
6 hypoalphalipoproteinemia, primary 27.6 ABCA1 APOA1 APOA2 APOB CETP LCAT
7 coronary heart disease 1 26.9 APOA1 APOA2 APOB APOE CETP LCAT
8 catel-manzke syndrome 11.3
9 sea-blue histiocyte disease 10.5 APOE LCAT
10 cerebral atherosclerosis 10.4 APOA1 APOE
11 amyloidosis aa 10.3 APOA1 LCAT LPA
12 hereditary amyloidosis 10.3 APOA1 APOA2
13 neuropathy 10.2
14 amyloidosis, familial visceral 10.2 APOA1 APOA2 LPA
15 xanthoma disseminatum 10.2 APOB APOE
16 hyperlipoproteinemia, type v 10.2 APOE LPL
17 hypercholesterolemia, autosomal dominant, type b 10.1 APOB APOE
18 syringomyelia 10.1
19 hepatic lipase deficiency 10.1 APOA1 APOE LPL
20 familial lcat deficiency 10.1 APOA1 APOA2 APOE LCAT
21 peripheral nervous system disease 10.1
22 recurrent acute pancreatitis 10.0 APOE LPL
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 9.9 APOB APOE LCAT
26 mucositis 9.9
27 polyneuropathy 9.9
28 aortic atherosclerosis 9.9 ABCA1 APOE CETP LPA
29 schnyder corneal dystrophy 9.9 APOA2 APOB APOE
30 generalized atherosclerosis 9.8 APOE PLTP
31 peripheral vascular disease 9.8 APOA1 APOB LPA
32 dysbaric osteonecrosis 9.8 APOA1 APOB
33 inherited metabolic disorder 9.8 APOA1 APOB NPC1
34 werner syndrome 9.8
35 malaria 9.8
36 male infertility 9.8
37 peripheral artery disease 9.8
38 tonsillitis 9.8
39 pancreatitis 9.8
40 infertility 9.8
41 neuronitis 9.8
42 amyloid neuropathy 9.8
43 lewis-sumner syndrome 9.8
44 hyperlipidemia, combined, 1 9.8 APOB LPL
45 cerebrovascular disease 9.7 APOA1 APOB APOE
46 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOB APOE LCAT
47 homozygous familial hypercholesterolemia 9.6 APOB APOE LPL
48 coronary stenosis 9.6 APOA1 APOB APOE CETP
49 gallbladder disease 9.6 APOA1 APOB APOE CETP
50 carotid artery disease 9.5 APOA1 APOB APOE LPA

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
AbdomenSpleen:
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 35)
# 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 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
11 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
12 hypocholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003146
13 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
14 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
15 carotid artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100546
16 accelerated atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004943
17 chronic noninfectious lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002730
18 progressive peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007133
19 coronary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0005145
20 orange discoloured tonsils 59 32 frequent (33%) Frequent (79-30%) HP:0030814
21 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
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 coronary artery atherosclerosis 32 HP:0001677
35 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 9.86 ABCA1 APOA1 APOB APOE LCAT LPL
2 cellular MP:0005384 9.81 ABCG1 APOA1 APOB APOE LPL NPC1
3 homeostasis/metabolism MP:0005376 9.65 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 liver/biliary system MP:0005370 9.23 ABCA1 ABCG1 APOA1 APOB APOE LCAT

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 Tangier Disease 29 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

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

Publications for Tangier Disease

Articles related to Tangier Disease:

(show top 50) (show all 203)
# 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
Clinical utility gene card for: Tangier disease. ( 28537273 )
2017
6
The iPSC Awakens ANGPTL3 in Tangier Disease. ( 28392245 )
2017
7
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. ( 26616730 )
2016
8
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. ( 27853448 )
2016
9
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. ( 25875382 )
2015
10
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. ( 26479764 )
2015
11
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. ( 25227739 )
2014
12
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. ( 25308558 )
2014
13
Tangier disease in a Turkish family. ( 25335997 )
2014
14
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. ( 23351586 )
2013
15
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. ( 24196952 )
2013
16
Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 )
2013
17
Tangier disease: epidemiology, pathophysiology, and management. ( 22913675 )
2012
18
Platelet activating factor levels and metabolism in Tangier disease: a case study. ( 22769014 )
2012
19
Recurrent lobar intracerebral hemorrhage in Tangier disease. ( 22133743 )
2012
20
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. ( 23430904 )
2012
21
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. ( 22179783 )
2012
22
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. ( 22959828 )
2012
23
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. ( 21844573 )
2011
24
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. ( 21763656 )
2011
25
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. ( 21860089 )
2011
26
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. ( 19765707 )
2010
27
Tangier disease phenotype diversity in dizygous twin sisters. ( 20070997 )
2010
28
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. ( 20093111 )
2010
29
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. ( 19344898 )
2009
30
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. ( 19208541 )
2009
31
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. ( 19723515 )
2009
32
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. ( 19556721 )
2009
33
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. ( 19470903 )
2009
34
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. ( 18374163 )
2008
35
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. ( 17560579 )
2008
36
Lewis-Sumner syndrome and Tangier disease. ( 18625867 )
2008
37
Severe Tangier disease with a novel ABCA1 gene mutation. ( 18955690 )
2008
38
An unusual presentation of Tangier disease with gallbladder involvement. ( 19317282 )
2008
39
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. ( 18787473 )
2008
40
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. ( 17434146 )
2007
41
Gastric mucosa appearance in a patient with Tangier disease. ( 17094727 )
2006
42
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. ( 16678735 )
2006
43
Tangier disease four decades of research: a reflection of the importance of HDL. ( 16611066 )
2006
44
Tangier disease: still more questions than answers. ( 16235041 )
2005
45
HDL deficiency and atherosclerosis: lessons from Tangier disease. ( 14746569 )
2004
46
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). ( 15163665 )
2004
47
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. ( 14747463 )
2004
48
Tangier disease. ( 15314143 )
2004
49
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. ( 15502486 )
2004
50
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. ( 15384103 )
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 rs1055285452High
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 391)
# 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) indel Pathogenic rs796051873 GRCh38 Chromosome 9, 104831740: 104831753
14 ABCA1 NM_005502.3(ABCA1) indel Pathogenic rs796051873 GRCh37 Chromosome 9, 107594021: 107594034
15 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh37 Chromosome 9, 107581062: 107581063
16 ABCA1 NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs) deletion Pathogenic rs387906414 GRCh38 Chromosome 9, 104818781: 104818782
17 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh37 Chromosome 9, 107549221: 107549221
18 ABCA1 NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp) single nucleotide variant Pathogenic rs137854501 GRCh38 Chromosome 9, 104786940: 104786940
19 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh37 Chromosome 9, 107584880: 107584880
20 ABCA1 NM_005502.3(ABCA1): c.2725delC (p.Arg909Glufs) deletion Pathogenic GRCh38 Chromosome 9, 104822599: 104822599
21 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh37 Chromosome 9, 107566949: 107566949
22 ABCA1 NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu) single nucleotide variant Pathogenic rs137854497 GRCh38 Chromosome 9, 104804668: 104804668
23 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh37 Chromosome 9, 107584802: 107584802
24 ABCA1 NM_005502.3(ABCA1): c.2803A> C (p.Asn935His) single nucleotide variant Pathogenic rs28937314 GRCh38 Chromosome 9, 104822521: 104822521
25 ABCA1 NG_007981.1 indel Pathogenic
26 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh37 Chromosome 9, 107560785: 107560785
27 ABCA1 NM_005502.3(ABCA1): c.5038C> T (p.Arg1680Trp) single nucleotide variant Pathogenic rs137854498 GRCh38 Chromosome 9, 104798504: 104798504
28 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh37 Chromosome 9, 107576435: 107576435
29 ABCA1 NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn) single nucleotide variant Pathogenic rs137854500 GRCh38 Chromosome 9, 104814154: 104814154
30 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh37 Chromosome 9, 107593379: 107593379
31 ABCA1 NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter) single nucleotide variant Pathogenic rs137854502 GRCh38 Chromosome 9, 104831098: 104831098
32 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh37 Chromosome 11, 116707850: 116707850
33 APOA1 NM_000039.2(APOA1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs387906570 GRCh38 Chromosome 11, 116837134: 116837134
34 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh37 Chromosome 9, 107543284: 107543284
35 ABCA1 NM_005502.3(ABCA1): c.*3312A> C single nucleotide variant Uncertain significance rs200442611 GRCh38 Chromosome 9, 104781003: 104781003
36 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh37 Chromosome 9, 107543342: 107543342
37 ABCA1 NM_005502.3(ABCA1): c.*3254T> C single nucleotide variant Likely benign rs79840023 GRCh38 Chromosome 9, 104781061: 104781061
38 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh37 Chromosome 9, 107543509: 107543509
39 ABCA1 NM_005502.3(ABCA1): c.*3087C> T single nucleotide variant Likely benign rs190539368 GRCh38 Chromosome 9, 104781228: 104781228
40 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh37 Chromosome 9, 107543567: 107543567
41 ABCA1 NM_005502.3(ABCA1): c.*3029A> G single nucleotide variant Likely benign rs181614282 GRCh38 Chromosome 9, 104781286: 104781286
42 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh37 Chromosome 9, 107543891: 107543891
43 ABCA1 NM_005502.3(ABCA1): c.*2705G> A single nucleotide variant Likely benign rs75141626 GRCh38 Chromosome 9, 104781610: 104781610
44 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh38 Chromosome 9, 104782404: 104782404
45 ABCA1 NM_005502.3(ABCA1): c.*1911C> T single nucleotide variant Benign rs4149340 GRCh37 Chromosome 9, 107544685: 107544685
46 ABCA1 NM_005502.3(ABCA1): c.*1896G> A single nucleotide variant Benign rs363717 GRCh37 Chromosome 9, 107544700: 107544700
47 ABCA1 NM_005502.3(ABCA1): c.*1896G> A single nucleotide variant Benign rs363717 GRCh38 Chromosome 9, 104782419: 104782419
48 ABCA1 NM_005502.3(ABCA1): c.*1657C> T single nucleotide variant Uncertain significance rs886063296 GRCh37 Chromosome 9, 107544939: 107544939
49 ABCA1 NM_005502.3(ABCA1): c.*1657C> T single nucleotide variant Uncertain significance rs886063296 GRCh38 Chromosome 9, 104782658: 104782658
50 ABCA1 NM_005502.3(ABCA1): c.*1327G> A single nucleotide variant Likely benign rs202165873 GRCh37 Chromosome 9, 107545269: 107545269

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 11.48 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 14)
# 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 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOB APOE
4 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOA2 APOB APOE LPL
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.54 APOB APOE
6 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOB APOE
7 spherical high-density lipoprotein particle GO:0034366 9.49 APOA1 APOA2
8 discoidal high-density lipoprotein particle GO:0034365 9.43 APOA1 APOE
9 intermediate-density lipoprotein particle GO:0034363 9.43 APOA1 APOB APOE
10 chylomicron GO:0042627 9.35 APOA1 APOA2 APOB APOE LPL
11 high-density lipoprotein particle GO:0034364 9.17 ABCA1 APOA1 APOA2 APOE CETP LCAT
12 extracellular exosome GO:0070062 10.13 APOA1 APOA2 APOB APOE CETP LCAT
13 extracellular space GO:0005615 10.06 APOA1 APOA2 APOB APOE CETP LCAT
14 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 57)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.99 APOA1 APOA2 APOB APOE
2 retinoid metabolic process GO:0001523 9.99 APOA1 APOA2 APOB APOE LPL
3 cholesterol metabolic process GO:0008203 9.97 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
4 lipoprotein metabolic process GO:0042157 9.95 ABCA1 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 triglyceride homeostasis GO:0070328 9.91 APOA1 APOE CETP LPL
9 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOA1 APOE CETP LCAT LPL
10 low-density lipoprotein particle remodeling GO:0034374 9.91 ABCG1 APOA2 APOB APOE CETP LPA
11 triglyceride catabolic process GO:0019433 9.9 APOA1 APOB APOE LPL
12 lipid catabolic process GO:0016042 9.89 APOB LPL PLCG1
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 phosphatidylcholine metabolic process GO:0046470 9.82 APOA1 CETP LCAT
24 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.81 ABCA1 ABCG1 CETP
25 positive regulation of cholesterol esterification GO:0010873 9.81 APOA1 APOA2 APOE
26 high-density lipoprotein particle clearance GO:0034384 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 phospholipid catabolic process GO:0009395 9.71 APOA2 PLCG1
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.71 APOB LPL
33 positive regulation of lipid biosynthetic process GO:0046889 9.71 APOA1 APOE
34 neuron projection regeneration GO:0031102 9.7 APOA1 APOE
35 chylomicron remnant clearance GO:0034382 9.7 APOB APOE
36 regulation of cholesterol transport GO:0032374 9.7 APOA1 APOE
37 cholesterol efflux GO:0033344 9.7 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
38 intracellular cholesterol transport GO:0032367 9.69 ABCA1 ABCG1
39 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
40 peptidyl-methionine modification GO:0018206 9.68 APOA1 APOA2
41 negative regulation of cytokine secretion involved in immune response GO:0002740 9.68 APOA1 APOA2
42 negative regulation of cholesterol storage GO:0010887 9.68 ABCA1 ABCG1
43 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
44 regulation of intestinal cholesterol absorption GO:0030300 9.67 APOA1 APOA2
45 negative regulation of lipase activity GO:0060192 9.67 APOA1 APOA2
46 lipoprotein catabolic process GO:0042159 9.67 APOB APOE
47 protein oxidation GO:0018158 9.66 APOA1 APOA2
48 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.66 APOA1 APOA2
49 regulation of high-density lipoprotein particle assembly GO:0090107 9.65 ABCA1 LCAT
50 high-density lipoprotein particle remodeling GO:0034375 9.5 ABCG1 APOA1 APOA2 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 9.91 APOA1 APOA2 APOB APOE CETP PLTP
2 heparin binding GO:0008201 9.83 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 9.67 APOA1 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 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
10 high-density lipoprotein particle binding GO:0008035 9.57 APOA1 APOA2
11 lipoprotein particle binding GO:0071813 9.56 APOA1 APOE
12 lipase inhibitor activity GO:0055102 9.55 APOA1 APOA2
13 apolipoprotein A-I binding GO:0034186 9.54 ABCA1 LCAT
14 high-density lipoprotein particle receptor binding GO:0070653 9.51 APOA1 APOA2
15 cholesterol transporter activity GO:0017127 9.5 ABCA1 ABCG1 APOA1 APOA2 APOB APOE
16 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
17 triglyceride binding GO:0017129 9.48 CETP LPL
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
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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