TGD
MCID: TNG002
MIFTS: 64

Tangier Disease (TGD)

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 74 25 20 43 58 73 36 29 13 54 6 44 15 39 71
Analphalipoproteinemia 57 25 43 58 73
High Density Lipoprotein Deficiency, Tangier Type 57 20 73
Familial High Density Lipoprotein Deficiency Disease 20 43
Alpha High Density Lipoprotein Deficiency Disease 20 43
Familial High Density Lipoprotein Deficiency 12 6
High Density Lipoprotein Deficiency, Type 1 57 20
Hdl Lipoprotein Deficiency Disease 20 43
Familial Hypoalphalipoproteinemia 12 43
a-Alphalipoprotein Neuropathy 20 43
Cholesterol Thesaurismosis 20 43
Tangier Disease Neuropathy 43 71
Hdldt1 57 20
Tgd 57 73
High Density Lipoprotein Deficiency, Type 1; Hdldt1 57
Familial High-Density Lipoprotein Deficiency 1 25
Atp-Binding Cassette Transporter A1 Deficiency 58
Lipoprotein Deficiency Disease, Hdl, Familial 43
Familial Alpha-Lipoprotein Deficiency 12
High Density Lipoprotein Deficiency 1 73
Hypoalphalipoproteinemia, Familial 71
Primary Hypoalphalipoproteinemia 1 25
Familial Hypoalphalipo-Proteinemia 20
Tangier Hereditary Neuropathy 43
Tangier Disease, Variant 6
Familial Hdl Deficiency 71
Analphalipo-Proteinemia 20
Hdld1 73

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
tangier disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:1388
OMIM® 57 205400
KEGG 36 H00159
MeSH 44 D013631
NCIt 50 C85182
SNOMED-CT 67 190783007
ICD10 32 E78.6
MESH via Orphanet 45 D013631
ICD10 via Orphanet 33 E78.6
UMLS via Orphanet 72 C0039292
Orphanet 58 ORPHA31150
MedGen 41 C0039292
UMLS 71 C0039292 C0751544 C1704429 more

Summaries for Tangier Disease

MedlinePlus Genetics : 43 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.Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.

MalaCards based summary : Tangier Disease, also known as analphalipoproteinemia, is related to hypoalphalipoproteinemia, primary, 1 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 Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and eye, and related phenotypes are hypertriglyceridemia and hypocholesterolemia

GARD : 20 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) (Updated 05-Mar-2021)

KEGG : 36 Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.

UniProtKB/Swiss-Prot : 73 Tangier disease: An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy.

Wikipedia : 74 Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a... more...

GeneReviews: NBK549920

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 168)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary, 1 32.5 APOA1-AS APOA1 ABCA1
2 fish-eye disease 30.8 LCAT APOA2 APOA1
3 hypoalphalipoproteinemia, primary, 2 30.7 APOA1-AS APOA1 ABCA1
4 hypoalphalipoproteinemia 30.6 LCAT APOA2 APOA1 ABCA1
5 peripheral artery disease 30.3 APOE APOB APOA1
6 arteriosclerosis 30.3 RHOA LPA APOE APOB APOA1
7 familial lcat deficiency 30.2 LCAT APOE APOA2 APOA1 ALB
8 hypertriglyceridemia, familial 30.1 LPL CETP APOE APOB APOA2 APOA1
9 coronary heart disease 1 30.0 LPL LPA LCAT CETP APOE APOB
10 arteries, anomalies of 30.0 MIR33A APOE APOB APOA1 ALB
11 lipid storage disease 29.9 NPC1 APOB ALB
12 xanthomatosis 29.8 LPL LPA APOE APOB ABCA1
13 hypercholesterolemia, familial, 1 29.7 LPL LPA LCAT CETP APOE APOB
14 cerebral amyloid angiopathy, cst3-related 29.6 CLU APP APOE
15 cerebrovascular disease 29.6 LPL LPA APP APOE APOB APOA1
16 lecithin:cholesterol acyltransferase deficiency 29.6 LPL LPA LCAT APOE APOB APOA2
17 hyperlipidemia, familial combined, 3 29.4 PLTP LPL LCAT CETP APOE APOB
18 cardiovascular system disease 29.4 PLTP LPL LPA LCAT CETP APOE
19 vascular disease 29.3 LPL LPA LCAT CETP APOE APOB
20 familial hypercholesterolemia 29.1 LPL LPA LCAT CETP APOE APOB
21 atherosclerosis susceptibility 29.1 PLTP LPL LPA LCAT CETP APOE
22 alzheimer disease 29.1 RHOA NPC1 LPA CLU APP APOE
23 lipid metabolism disorder 29.0 PLTP MIR33A LPL LPA LCAT CETP
24 hypolipoproteinemia 28.9 PLTP MIR33A LPL LPA LCAT CETP
25 lipoprotein quantitative trait locus 28.7 PLTP LPL LPA LCAT CLU CETP
26 type 2 diabetes mellitus 28.7 PLTP LPL LPA LCAT CLU CETP
27 neuropathy 10.6
28 peripheral nervous system disease 10.5
29 splenomegaly 10.5
30 autosomal recessive disease 10.4
31 apo a-i deficiency 10.4 LCAT APOA1
32 pediatric testicular germ cell tumor 10.4 LPA APOA1
33 residual stage of open angle glaucoma 10.4 APP APOE
34 syringomyelia, noncommunicating isolated 10.4
35 syringomyelia 10.4
36 senile plaque formation 10.4 APP APOE
37 amyloidosis aa 10.4 LPA LCAT APOA1
38 niemann-pick disease 10.4 NPC1 LCAT ABCA1
39 xanthoma disseminatum 10.3 APOE APOB
40 sea-blue histiocyte disease 10.3 LCAT APOE
41 alzheimer's disease 1 10.3 APP APOE
42 alzheimer disease 2 10.3 CETP APP APOE
43 huntington disease-like 3 10.3
44 mild cognitive impairment 10.3 CLU APP APOE
45 leukodystrophy, hypomyelinating, 3 10.3 APOB APOA2 APOA1
46 idiopathic nephrotic syndrome 10.3 APOE ALB
47 silent myocardial infarction 10.3 APOB APOA1
48 arteriolosclerosis 10.3 APP APOE ALB
49 defective apolipoprotein b-100 10.3 LCAT APOE APOB
50 fetal macrosomia 10.3 LCAT APOB APOA1

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
2 hypocholesterolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003146
3 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
4 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
5 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
6 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
7 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
8 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
9 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
10 accelerated atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0004943
11 chronic noninfectious lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002730
12 coronary artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0005145
13 progressive peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007133
14 orange discolored tonsils 31 frequent (33%) HP:0030814
15 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
16 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
17 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
18 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
19 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
20 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
21 impaired thermal sensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006901
22 carotid artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100546
23 splenomegaly 31 HP:0001744
24 hepatomegaly 31 HP:0002240
25 visual impairment 31 HP:0000505
26 opacification of the corneal stroma 31 HP:0007759
27 myocardial infarction 31 HP:0001658
28 impaired pain sensation 31 HP:0007328
29 hyporeflexia 31 HP:0001265
30 decreased hdl cholesterol concentration 31 HP:0003233
31 nail dysplasia 31 HP:0002164
32 distal amyotrophy 31 HP:0003693
33 impaired temperature sensation 31 HP:0010829
34 coronary artery atherosclerosis 31 HP:0001677
35 peripheral demyelination 31 HP:0011096
36 orange discoloured tonsils 58 Frequent (79-30%)
37 cicatricial ectropion 31 HP:0025608

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
visual impairment
cicatricial ectropion
corneal opacities
decreased corneal sensation due to peripheral neuropathy
incomplete eyelid closure
more
Cardiovascular Heart:
myocardial infarction
left ventricular hypertrophy
heart disease, premature

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

Skin Nails Hair Skin:
dry skin

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 (Updated 05-Mar-2021)

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 8.65 ABCA1
2 Decreased LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Tangier Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ABCA1 ALB APOA1 APOB APOE APP
2 cellular MP:0005384 9.93 ABCA1 ABCG1 ALB APOA1 APOB APOE
3 homeostasis/metabolism MP:0005376 9.8 ABCA1 ABCG1 ALB APOA1 APOA2 APOB
4 liver/biliary system MP:0005370 9.28 ABCA1 ABCG1 ALB APOA1 APOB APOE

Drugs & Therapeutics for Tangier Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High Protein Diet , Adiponectin and Inflammatory Factors Completed NCT01886495 Phase 3
2 Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese Children Completed NCT01886482 Phase 3
3 High Protein Diet , CRP and CVD Risk Factors Completed NCT01763528 Phase 3
4 Phase 3, Multicenter, Randomized, 48 Week, Double Blind, Parallel Group, Placebo Controlled Study to Evaluate Efficacy and Safety of CER-001 on Vessel Wall Area in Patients With Genetically Defined Familial Primary Hypoalphalipoproteinemia Terminated NCT02697136 Phase 3 CER-001;Placebo
5 Quantitative Genetic Analysis of Lipid Research Clinic Family Data Completed NCT00005188
6 A Validation Study Evaluating the Use of 3H-Cholesterol Bound to Albumin as a Method to Assess Reverse Cholesterol Transport in Subjects With Monogenic Diseases Affecting HDL Metabolism Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Tangier Disease

Cochrane evidence based reviews: tangier disease

Genetic Tests for Tangier Disease

Genetic tests related to Tangier Disease:

# Genetic test Affiliating Genes
1 Tangier Disease 29 ABCA1

Anatomical Context for Tangier Disease

MalaCards organs/tissues related to Tangier Disease:

40
Liver, Spleen, Eye, Heart, Skin, Kidney, Brain

Publications for Tangier Disease

Articles related to Tangier Disease:

(show top 50) (show all 561)
# Title Authors PMID Year
1
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. 54 61 57 6 25
10431238 1999
2
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. 54 61 25 57 6
10431237 1999
3
Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. 54 61 6 57
10535983 1999
4
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 6 57 61
10431236 1999
5
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 61 54 6
11476965 2001
6
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. 6 61 54
11476961 2001
7
Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. 57 61 54
8432861 1993
8
Severe Tangier disease with a novel ABCA1 gene mutation. 57 61
18955690 2008
9
Tangier disease with unusual clinical manifestations. 6 61
12702168 2003
10
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. 61 6
12111371 2002
11
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease. 6 61
12111381 2002
12
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. 61 57
9731541 1998
13
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 6 61
8282791 1994
14
Sequence and expression of Tangier apoA-I gene. 61 57
3129297 1988
15
In vivo metabolism of proapolipoprotein A-I in Tangier disease. 57 61
3119665 1987
16
Ocular complications of Tangier disease. 61 57
3314502 1987
17
Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease. 57 61
3677505 1987
18
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. 57 61
4082916 1985
19
Tangier disease. The complete mRNA sequence encoding for preproapo-A-I. 57 61
2995392 1985
20
Tangier disease: a disorder of intracellular membrane traffic. 61 57
2994070 1985
21
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. 61 57
6428166 1984
22
Peripheral neuropathy in Tangier disease. 61 57
6317140 1983
23
Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-i) with high density lipoproteins. 61 57
6412234 1983
24
Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease. 61 57
7068673 1982
25
Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier). 61 57
6806810 1982
26
Tangier disease: heterozygote detection and linkage analysis. 57 61
6951800 1982
27
Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins. 57 61
6787156 1981
28
Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). 61 57
7406376 1980
29
Metabolism of high-density lipoprotein apolipoproteins in Tangier disease. 61 57
211412 1978
30
Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. 57 61
75948 1978
31
Characterization of high density lipoproteins in patients heterozygous for Tangier disease. 57 61
198431 1977
32
Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase. 61 57
194920 1977
33
Tangier disease (alpha-lipoprotein deficiency). 57 61
195100 1977
34
The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. 57 61
190272 1977
35
The pathology of Tangier disease. A light and electron microscopic study. 57 61
162820 1975
36
Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. 61 57
4368872 1974
37
Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. 61 57
4341435 1972
38
Tangier disease. Report of a case and studies of lipid metabolism. 57 61
5058794 1972
39
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. 57 61
4165386 1967
40
Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities. 61 57
4165172 1967
41
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). 61 57
14162531 1964
42
Peripheral neuropathy in Tangier disease: A literature review and assessment. 61 25
29582519 2018
43
Structure of the Human Lipid Exporter ABCA1. 25 61
28602350 2017
44
Diagnosis and treatment of high density lipoprotein deficiency. 61 25
27565770 2016
45
Approach to the patient with extremely low HDL-cholesterol. 61 25
23043194 2012
46
Hepatic ABCA1 and VLDL triglyceride production. 61 25
22001232 2012
47
Lipid transport by mammalian ABC proteins. 61 25
21967062 2011
48
Marked HDL deficiency and premature coronary heart disease. 25 61
20616715 2010
49
The ABCs of cholesterol efflux. 57
10431227 1999
50
Severe aortic stenosis and atherosclerosis in a young man with Tangier disease. 61 25
8184829 1994

Variations for Tangier Disease

ClinVar genetic disease variations for Tangier Disease:

6 (show top 50) (show all 291)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA1 NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) SNV Pathogenic 9483 rs137854494 9:107568557-107568557 9:104806276-104806276
2 ABCA1 NM_005502.4(ABCA1):c.3738+1G>C SNV Pathogenic 9484 rs796051872 9:107578423-107578423 9:104816142-104816142
3 ABCA1 NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg) SNV Pathogenic 9485 rs2853578 9:107593308-107593308 9:104831027-104831027
4 ABCA1 NM_005502.4(ABCA1):c.1824del (p.Thr609fs) Deletion Pathogenic 9487 rs387906413 9:107593274-107593274 9:104830993-104830993
5 ABCA1 NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser) SNV Pathogenic 9488 rs28937313 9:107584801-107584801 9:104822520-104822520
6 ABCA1 NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val) SNV Pathogenic 9489 rs137854495 9:107584795-107584795 9:104822514-104822514
7 ABCA1 NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) SNV Pathogenic 9490 rs137854496 9:107593329-107593329 9:104831048-104831048
8 ABCA1 NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) Indel Pathogenic 9492 rs796051873 9:107594021-107594034 9:104831740-104831753
9 ABCA1 NM_005502.4(ABCA1):c.3343_3344del (p.Ser1115fs) Deletion Pathogenic 9493 rs387906414 9:107581062-107581063 9:104818781-104818782
10 ABCA1 NM_005502.4(ABCA1):c.6241C>T (p.Arg2081Trp) SNV Pathogenic 9494 rs137854501 9:107549221-107549221 9:104786940-104786940
11 ABCA1 NM_005502.4(ABCA1):c.2725del (p.Arg909fs) Deletion Pathogenic 9495 rs1554714092 9:107584880-107584880 9:104822599-104822599
12 ABCA1 NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu) SNV Pathogenic 9496 rs137854497 9:107566949-107566949 9:104804668-104804668
13 ABCA1 NM_005502.4(ABCA1):c.2803A>C (p.Asn935His) SNV Pathogenic 9498 rs28937314 9:107584802-107584802 9:104822521-104822521
14 ABCA1 NG_007981.1:g.[101177_102434delins36;107248_127198delins21] Indel Pathogenic 9499
15 ABCA1 NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter) SNV Pathogenic 9505 rs137854502 9:107593379-107593379 9:104831098-104831098
16 ABCA1 NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp) SNV Pathogenic 9500 rs137854498 9:107560785-107560785 9:104798504-104798504
17 APOA1-AS NM_001318021.1(APOA1):c.-240-21C>T SNV Pathogenic 17924 rs387906570 11:116707850-116707850 11:116837134-116837134
18 ABCA1 NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp) SNV Likely pathogenic 374312 rs28937314 9:107584802-107584802 9:104822521-104822521
19 ABCA1 NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) SNV Conflicting interpretations of pathogenicity 364456 rs9282541 9:107620835-107620835 9:104858554-104858554
20 ABCA1 NM_005502.4(ABCA1):c.*303C>T SNV Uncertain significance 364371 rs530474404 9:107546293-107546293 9:104784012-104784012
21 ABCA1 NM_005502.4(ABCA1):c.2196G>A (p.Gln732=) SNV Uncertain significance 364435 rs187695583 9:107589370-107589370 9:104827089-104827089
22 ABCA1 NM_005502.4(ABCA1):c.-139T>C SNV Uncertain significance 364474 rs192053696 9:107690262-107690262 9:104927981-104927981
23 ABCA1 NM_005502.4(ABCA1):c.*1657C>T SNV Uncertain significance 364344 rs886063296 9:107544939-107544939 9:104782658-104782658
24 ABCA1 NM_005502.4(ABCA1):c.-205G>T SNV Uncertain significance 364477 rs78086474 9:107690328-107690328 9:104928047-104928047
25 ABCA1 NM_005502.4(ABCA1):c.3985T>G (p.Phe1329Val) SNV Uncertain significance 364408 rs886063307 9:107574920-107574920 9:104812639-104812639
26 ABCA1 NM_005502.4(ABCA1):c.5813C>T (p.Pro1938Leu) SNV Uncertain significance 364384 rs868096941 9:107554224-107554224 9:104791943-104791943
27 ABCA1 NM_005502.4(ABCA1):c.*1326C>T SNV Uncertain significance 364354 rs563738526 9:107545270-107545270 9:104782989-104782989
28 ABCA1 NM_005502.4(ABCA1):c.3330C>G (p.Cys1110Trp) SNV Uncertain significance 364418 rs886063309 9:107581076-107581076 9:104818795-104818795
29 ABCA1 NM_005502.4(ABCA1):c.*614C>T SNV Uncertain significance 364363 rs879092419 9:107545982-107545982 9:104783701-104783701
30 ABCA1 NM_005502.4(ABCA1):c.352A>G (p.Lys118Glu) SNV Uncertain significance 364462 rs753703009 9:107645389-107645389 9:104883108-104883108
31 ABCA1 NM_005502.4(ABCA1):c.*1204A>T SNV Uncertain significance 364359 rs886063299 9:107545392-107545392 9:104783111-104783111
32 ABCA1 NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) SNV Uncertain significance 364431 rs35819696 9:107589246-107589246 9:104826965-104826965
33 ABCA1 NM_005502.4(ABCA1):c.*132A>G SNV Uncertain significance 364373 rs886063304 9:107546464-107546464 9:104784183-104784183
34 ABCA1 NM_005502.4(ABCA1):c.*2089G>A SNV Uncertain significance 364337 rs146353431 9:107544507-107544507 9:104782226-104782226
35 ABCA1 NM_005502.4(ABCA1):c.*1467A>T SNV Uncertain significance 364349 rs886063298 9:107545129-107545129 9:104782848-104782848
36 ABCA1 NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=) SNV Uncertain significance 364411 rs548468204 9:107578436-107578436 9:104816155-104816155
37 ABCA1 NM_005502.4(ABCA1):c.*1574T>C SNV Uncertain significance 364347 rs886063297 9:107545022-107545022 9:104782741-104782741
38 ABCA1 NM_005502.4(ABCA1):c.-138G>A SNV Uncertain significance 364473 rs764398402 9:107690261-107690261 9:104927980-104927980
39 ABCA1 NM_005502.4(ABCA1):c.*2907A>C SNV Uncertain significance 364327 rs551547276 9:107543689-107543689 9:104781408-104781408
40 ABCA1 NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg) SNV Uncertain significance 364380 rs752051518 9:107550221-107550221 9:104787940-104787940
41 ABCA1 NM_005502.4(ABCA1):c.*1218A>G SNV Uncertain significance 364357 rs528656411 9:107545378-107545378 9:104783097-104783097
42 ABCA1 NM_005502.4(ABCA1):c.-141C>G SNV Uncertain significance 364476 rs886063314 9:107690264-107690264 9:104927983-104927983
43 ABCA1 NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) SNV Uncertain significance 364424 rs886063310 9:107582323-107582323 9:104820042-104820042
44 ABCA1 NM_005502.4(ABCA1):c.*2653C>G SNV Uncertain significance 364330 rs535377345 9:107543943-107543943 9:104781662-104781662
45 ABCA1 NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) SNV Uncertain significance 364392 rs13306077 9:107558340-107558340 9:104796059-104796059
46 ABCA1 NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=) SNV Uncertain significance 364434 rs201076284 9:107589283-107589283 9:104827002-104827002
47 ABCA1 NM_005502.4(ABCA1):c.*289T>C SNV Uncertain significance 364372 rs886063303 9:107546307-107546307 9:104784026-104784026
48 ABCA1 NM_005502.4(ABCA1):c.5757+12C>T SNV Uncertain significance 364387 rs769533549 9:107555055-107555055 9:104792774-104792774
49 ABCA1 NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) SNV Uncertain significance 364442 rs143299210 9:107593382-107593382 9:104831101-104831101
50 ABCA1 NM_005502.4(ABCA1):c.*1768T>A SNV Uncertain significance 364342 rs535255845 9:107544828-107544828 9:104782547-104782547

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

73 (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

Expression for Tangier Disease

Search GEO for disease gene expression data for Tangier Disease.

Pathways for Tangier Disease

Pathways related to Tangier Disease according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 PLTP PLCG1 NPC1 LPL LPA LCAT
2
Show member pathways
13.19 RHOA PLCG1 CLU APP APOB APOA1
3
Show member pathways
12.56 LPL APOE APOB APOA2 APOA1
4
Show member pathways
12.13 APOE APOB APOA1 ALB ABCA1
5
Show member pathways
12.1 LPL APOE APOB APOA2 APOA1
6
Show member pathways
11.97 PLTP NPC1 LPL LPA LCAT CETP
7 11.9 PLCG1 APOE APOA1 ALB
8
Show member pathways
11.81 PLTP NPC1 MIR33A LPL LPA LCAT
9
Show member pathways
11.8 APOE APOB APOA1 ALB
10 11.5 PLTP LPL APOA2 APOA1
11 11.4 RHOA LPA APOB
12
Show member pathways
11.38 APOB APOA1 ABCA1
13 11.31 RHOA PLCG1 ARF1
14 11.23 MIR33A ABCG1 ABCA1
15 11.05 PLTP APOA2 APOA1
16 10.99 CETP ARF1 ABCA1
17 10.75 RHOA ARF1
18 10.74 APOA2 APOA1 ABCG1 ABCA1

GO Terms for Tangier Disease

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.21 PLTP LPL LCAT CLU CETP APP
2 Golgi apparatus GO:0005794 10.15 NPC1 CLU ARF1 APP APOE ALB
3 extracellular exosome GO:0070062 10.15 RHOA NPC1 LCAT CLU CETP ARF1
4 extracellular region GO:0005576 10.07 PLTP NPC1 LPL LPA LCAT CLU
5 early endosome GO:0005769 9.92 APP APOE APOB APOA2 APOA1
6 endoplasmic reticulum lumen GO:0005788 9.91 APP APOE APOB APOA2 APOA1 ALB
7 blood microparticle GO:0072562 9.85 CLU APOE APOA2 APOA1 ALB
8 platelet alpha granule lumen GO:0031093 9.73 CLU APP ALB
9 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
10 low-density lipoprotein particle GO:0034362 9.65 APOE APOB APOA1
11 spherical high-density lipoprotein particle GO:0034366 9.58 CLU APOA2 APOA1
12 very-low-density lipoprotein particle GO:0034361 9.55 LPL APOE APOB APOA2 APOA1
13 discoidal high-density lipoprotein particle GO:0034365 9.54 APOE APOA1
14 intermediate-density lipoprotein particle GO:0034363 9.5 APOE APOB APOA1
15 chylomicron GO:0042627 9.35 LPL APOE APOB APOA2 APOA1
16 high-density lipoprotein particle GO:0034364 9.17 PLTP LCAT CETP APOE APOB APOA2

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

(show top 50) (show all 63)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.23 PLTP PLCG1 NPC1 LPL LPA LCAT
2 post-translational protein modification GO:0043687 10.14 APP APOE APOB APOA2 APOA1 ALB
3 cellular protein metabolic process GO:0044267 10.1 APP APOE APOB APOA2 APOA1 ALB
4 steroid metabolic process GO:0008202 10.09 NPC1 LCAT CETP APOE APOB APOA1
5 response to drug GO:0042493 10.08 RHOA NPC1 LPL APOA1 ABCA1
6 receptor-mediated endocytosis GO:0006898 10 APOE APOB APOA1 ALB
7 retinoid metabolic process GO:0001523 10 LPL APOE APOB APOA2 APOA1
8 cholesterol efflux GO:0033344 9.98 NPC1 APOE APOB APOA2 APOA1 ABCG1
9 platelet degranulation GO:0002576 9.97 CLU APP APOA1 ALB
10 triglyceride homeostasis GO:0070328 9.97 MIR33A LPL CETP APOE APOA1
11 intermembrane lipid transfer GO:0120009 9.97 PLTP CETP APOE APOB APOA2 APOA1
12 lipoprotein metabolic process GO:0042157 9.96 APOE APOB APOA2 APOA1 ABCA1
13 low-density lipoprotein particle remodeling GO:0034374 9.95 LPA CETP APOE APOB APOA2 ABCG1
14 cholesterol transport GO:0030301 9.95 NPC1 LCAT CETP APOB APOA2 APOA1
15 phospholipid transport GO:0015914 9.94 PLTP CETP APOA1 ABCA1
16 triglyceride metabolic process GO:0006641 9.93 LPL CETP APOE APOA2
17 phospholipid efflux GO:0033700 9.93 APOE APOA2 APOA1 ABCG1 ABCA1
18 very-low-density lipoprotein particle remodeling GO:0034372 9.92 LPL LCAT CETP APOE APOA1
19 reverse cholesterol transport GO:0043691 9.92 LCAT CLU CETP APOE APOA2 APOA1
20 positive regulation of cholesterol efflux GO:0010875 9.91 PLTP APOE APOA1 ABCA1
21 chylomicron remodeling GO:0034371 9.91 LPL APOE APOB APOA2 APOA1
22 regulation of lipid metabolic process GO:0019216 9.9 APOA2 APOA1 ABCA1
23 positive regulation of tumor necrosis factor production GO:0032760 9.9 LPL CLU APP
24 negative regulation of cell death GO:0060548 9.89 RHOA NPC1 CLU
25 response to glucose GO:0009749 9.89 RHOA LPL APOA2
26 phospholipid metabolic process GO:0006644 9.89 LPL LCAT APOA1
27 phospholipid homeostasis GO:0055091 9.89 CETP APOA1 ABCG1 ABCA1
28 lipoprotein biosynthetic process GO:0042158 9.89 LCAT APOE APOB APOA1 ABCA1
29 high-density lipoprotein particle assembly GO:0034380 9.88 APOE APOA2 APOA1 ABCA1
30 chylomicron assembly GO:0034378 9.88 APOE APOB APOA2 APOA1
31 high-density lipoprotein particle remodeling GO:0034375 9.86 PLTP LCAT CETP APOE APOA2 APOA1
32 phosphatidylcholine biosynthetic process GO:0006656 9.85 LCAT APOA2 APOA1
33 cholesterol homeostasis GO:0042632 9.85 NPC1 LPL LCAT CETP APOE APOB
34 phosphatidylcholine metabolic process GO:0046470 9.84 LCAT CETP APOA1
35 intracellular cholesterol transport GO:0032367 9.83 NPC1 ABCG1 ABCA1
36 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.83 CETP ABCG1 ABCA1
37 high-density lipoprotein particle clearance GO:0034384 9.82 APOE APOA2 APOA1
38 positive regulation of cholesterol esterification GO:0010873 9.82 APOE APOA2 APOA1
39 regulation of Cdc42 protein signal transduction GO:0032489 9.81 APOE APOA1 ABCA1
40 apolipoprotein A-I-mediated signaling pathway GO:0038027 9.79 RHOA MIR33A ABCA1
41 positive regulation of amyloid fibril formation GO:1905908 9.79 CLU APP APOE
42 positive regulation of T cell migration GO:2000406 9.73 RHOA APP
43 positive regulation of lipid storage GO:0010884 9.73 LPL APOB
44 cellular copper ion homeostasis GO:0006878 9.73 ARF1 APP
45 negative regulation of long-term synaptic potentiation GO:1900272 9.73 APP APOE
46 very-low-density lipoprotein particle assembly GO:0034379 9.72 ARF1 APOB
47 negative regulation of amyloid fibril formation GO:1905907 9.72 CLU APOE
48 negative regulation of cholesterol storage GO:0010887 9.72 ABCG1 ABCA1
49 positive regulation of cholesterol storage GO:0010886 9.71 LPL APOB
50 chylomicron remnant clearance GO:0034382 9.71 APOE APOB

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.95 PLTP CETP APOE APOA2 APOA1 ALB
2 signaling receptor binding GO:0005102 9.91 LPL CLU APP APOE APOA2 APOA1
3 heparin binding GO:0008201 9.89 LPL LPA APP APOE APOB
4 phospholipid binding GO:0005543 9.83 APOE APOB APOA2 APOA1 ABCG1
5 amyloid-beta binding GO:0001540 9.77 CLU APOE APOA1
6 low-density lipoprotein particle receptor binding GO:0050750 9.7 CLU APOE APOB
7 apolipoprotein binding GO:0034185 9.69 LPL LPA ABCA1
8 phosphatidylcholine binding GO:0031210 9.65 PLTP CETP APOA2 APOA1 ABCA1
9 lipoprotein particle binding GO:0071813 9.63 LPL APOE APOA1
10 cholesterol binding GO:0015485 9.63 NPC1 CETP APOA2 APOA1 ABCG1 ABCA1
11 high-density lipoprotein particle binding GO:0008035 9.62 PLTP APOA2 APOA1 ABCA1
12 heparan sulfate proteoglycan binding GO:0043395 9.61 LPL APOE
13 phospholipid transporter activity GO:0005548 9.6 CETP ABCA1
14 lipase inhibitor activity GO:0055102 9.58 APOA2 APOA1
15 phosphatidylcholine-translocating ATPase activity GO:0090554 9.58 ABCG1 ABCA1
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOE APOA2 APOA1
17 apolipoprotein A-I binding GO:0034186 9.57 LCAT ABCA1
18 triglyceride binding GO:0017129 9.56 LPL CETP
19 high-density lipoprotein particle receptor binding GO:0070653 9.55 APOA2 APOA1
20 apolipoprotein receptor binding GO:0034190 9.54 APOA2 APOA1
21 lipid transporter activity GO:0005319 9.43 NPC1 APOE APOB APOA2 APOA1 ABCA1
22 intermembrane cholesterol transfer activity GO:0120020 9.23 PLTP CETP APOE APOB APOA2 APOA1

Sources for Tangier Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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