MCID: TNG002
MIFTS: 60

Tangier Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Endocrine diseases categories

Aliases & Classifications for Tangier Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Tangier Disease:

Name: Tangier Disease 49 10 11 45 22 23 47 12 51 24 65 36 67
Familial High Density Lipoprotein Deficiency Disease 45 22 23
Analphalipoproteinemia 23 51 67
Alpha High Density Lipoprotein Deficiency Disease 45 23
Hdl Lipoprotein Deficiency Disease 45 23
Familial Hypoalphalipo-Proteinemia 45 22
Familial Hypoalphalipoproteinemia 10 23
a-Alphalipoprotein Neuropathy 45 23
Tangier Disease Neuropathy 23 65
Cholesterol Thesaurismosis 45 23
Familial Hdl Deficiency 22 65
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 51
High Density Lipoprotein Deficiency, Tangier Type 45
 
Atp-Binding Cassette Transporter A1 Deficiency 51
Lipoprotein Deficiency Disease, Hdl, Familial 23
Familial High Density Lipoprotein Deficiency 10
High Density Lipoprotein Deficiency, Type 1 45
Familial Alpha-Lipoprotein Deficiency 10
High Density Lipoprotein Deficiency 1 67
Hypoalphalipoproteinemia, Familial 65
Tangier Hereditary Neuropathy 23
Analphalipo-Proteinemia 45
Hdldt1 45
Hdld1 67
Tgd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 205400
Disease Ontology10 DOID:1388
NCIt42 C85182
Orphanet51 31150
SNOMED-CT59 190783007, 15346004
ICD10 via Orphanet28 E78.6
MESH via Orphanet37 D013631
UMLS via Orphanet66 C0039292
MedGen34 C0039292

Summaries for Tangier Disease

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Genetics Home Reference:23 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

MalaCards based summary: Tangier Disease, also known as familial high density lipoprotein deficiency disease, is related to hypertriglyceridemia and artery disease, and has symptoms including autosomal recessive inheritance, visual impairment and ectropion. An important gene associated with Tangier Disease is ABCA1 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 1), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Vitamin digestion and absorption. Affiliated tissues include liver, heart and tonsil, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

NIH Rare Diseases:45 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (hdl) - the 'good cholesterol' - in the blood. because people with tangier disease have very low levels of hdl, they have a moderately increased risk of cardiovascular disease. tangier disease is caused by mutations in the abca1 gene. it is inherited in an autosomal recessive pattern. last updated: 8/19/2011

OMIM:49 Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density... (205400) more...

UniProtKB/Swiss-Prot:67 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:68 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a... more...

Related Diseases for Tangier Disease

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Diseases related to Tangier Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1hypertriglyceridemia29.6APOA1, APOA2, APOB, APOE, CETP, LPA
2artery disease29.6APOA1, APOB, APOE, CETP, LPA
3coronary artery disease29.4ABCA1, APOA1, APOA2, APOB, APOE, CETP
4hypoalphalipoproteinemia28.7ABCA1, APOA1, APOA2, APOB, APOE, CETP
5catel-manzke syndrome10.7
6abca1-associated familial high density lipoprotein deficiency10.5
7abca1-related familial high density lipoprotein deficiency10.5
8apoa1-associated familial high density lipoprotein deficiency10.5
9neuropathy10.5
10syringomyelia10.4
11atherosclerosis10.4
12peripheral neuropathy10.3
13apolipoprotein c 2i deficiency10.3APOA1, LCAT
14leprosy10.2
15fish-eye disease10.2
16eye disease10.2
17polyneuropathy10.2
18amelogenesis imperfecta, type iia310.2APOA1, APOE
19alzheimer disease-210.2APOE, LCAT
20hereditary antithrombin deficiency10.2APOA1, APOA2
21extensor tendons of finger anomalies10.2ABCA1, APOA1, CETP
22spinocerebellar ataxia 410.1APOA1, APOA2, LCAT
23alcoholic hepatitis10.1
24amyloidosis beta2m10.1APOA1, LCAT, LPA
25nephronophthisis10.1APOA1, APOE, LPA
26amyloidosis, familial visceral10.1APOA1, APOA2, LPA
27cushing's syndrome10.1ALB, LCAT
28malaria10.1
29werner syndrome10.1
30neuronitis10.1
31tonsillitis10.1
32peripheral artery disease10.1
33pancreatitis10.1
34amyloid neuropathy10.1
35apo a-i deficiency10.1
36apolipoprotein a-i deficiency10.1
37lewis-sumner syndrome10.1
38atrioventricular septal defect 510.1ABCA1, NPC1
39macrocephaly, alopecia, cutis laxa, and scoliosis10.0ABCA1, APOA1, LCAT, LPA
40progressive nodular histiocytosis10.0APOB, APOE
41hypercholesterolemia, due to ligand-defective apo b10.0APOB, APOE
42acute anterolateral myocardial infarction10.0APOA1, APOB
43ulcer of lower limbs10.0ALB, APOE
44avascular necrosis of the femoral head10.0APOA1, APOB
45arteriovenous fistula10.0ABCA1, APOE, CETP, LPA
46pigmentary cirrhosis10.0APOE, PLTP
47lipoprotein glomerulopathy9.9APOE, CETP
48fetal methimazole syndrome9.9APOA1, APOB, LCAT
49ischemic optic neuropathy9.9APOA1, APOB, APOE
50deficiency of n-glycanase 19.9APOB, APOE, LCAT

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



Diseases related to tangier disease

Symptoms for Tangier Disease

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Symptoms by clinical synopsis from OMIM:

205400

Clinical features from OMIM:

205400

HPO human phenotypes related to Tangier Disease:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 ectropion HP:0000656
4 dry skin HP:0000958
5 hyporeflexia HP:0001265
6 facial diplegia HP:0001349
7 myocardial infarction HP:0001658
8 left ventricular hypertrophy HP:0001712
9 splenomegaly HP:0001744
10 nail dysplasia HP:0002164
11 hepatomegaly HP:0002240
12 hypoalphalipoproteinemia HP:0003233
13 peripheral axonal neuropathy HP:0003477
14 distal amyotrophy HP:0003693
15 impaired pain sensation HP:0007328
16 opacification of the corneal stroma HP:0007759
17 nail dystrophy HP:0008404
18 impaired temperature sensation HP:0010829
19 peripheral demyelination HP:0011096

Drugs & Therapeutics for Tangier Disease

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlyburideapprovedPhase 410010238-21-83488
Synonyms:
1-((P-(2-(5-chloro-O-Anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea
1-((p-(2-(5-Chloro-o-anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea
1-(P-(2-(5-chloro-2-Methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea
1-(p-(2-(5-Chloro-2-methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea
10238-21-8
5-Chloro-N-[4-(cyclohexylureidosulfonyl)phenethyl]-2-methoxybenzamide
5-chloro-N-(2-(4-((((Cyclohexylamino)carbonyl)amino)sulfonyl)phenyl)ethyl)-2-methoxybenzamide
5-chloro-N-[2-[4-(cyclohexylcarbamoylsulfamoyl)phenyl]ethyl]-2-methoxybenzamide
AB00051949
AC1L1G1Q
AC1Q44V7
AKOS001487495
Abbenclamide
Adiab
Apo-Glibenclamide
Azuglucon
BIDD:GT0239
BPBio1_000344
BRD-K36927236-001-06-0
BRN 2230085
BSPBio_000312
BSPBio_001351
BSPBio_003053
Bastiverit
Benclamin
Betanase
Betanese 5
Bio-0156
Bio1_000076
Bio1_000565
Bio1_001054
Bio2_000071
Bio2_000551
C07022
C23H28ClN3O5S
CAS-10238-21-8
CBiol_001790
CHEBI:5441
CHEMBL472
CID3488
CPD000058229
Calabren
Cytagon
D00336
D005905
DB01016
Daonil
Debtan
Dia-basan
Diabeta
Diabeta (TN)
Diabiphage
Dibelet
DivK1c_000481
Duraglucon
EINECS 233-570-6
EU-0100499
Euclamin
Euglucan
Euglucon
Euglucon 5
Euglucon N
Euglykon
G 0639
G0639_SIAL
G0639_SIGMA
G2539_SIAL
GBN 5
Gen-Glybe
Gewaglucon
Gilemal
Glamide
Glibadone
Gliban
Gliben
Gliben-Puren N
Glibenbeta
Glibenclamid AL
Glibenclamid Basics
Glibenclamid Fabra
Glibenclamid Genericon
Glibenclamid Heumann
Glibenclamid Riker M
Glibenclamid Riker M.
Glibenclamid-Cophar
Glibenclamid-Ratiopharm
Glibenclamida
Glibenclamida [INN-Spanish]
Glibenclamide
Glibenclamide (JP15/INN)
Glibenclamidum
Glibenclamidum [INN-Latin]
Glibenil
Glibens
Glibesyn
Glibet
Glibetic
Glibil
Gliboral
Glicem
Glidiabet
Glimel
Glimide
Glimidstata
Glisulin
Glitisol
Glubate
Gluben
Gluco-Tablimen
Glucobene
Glucohexal
Glucolon
Glucomid
Glucoremed
Glucoven
Glyben
Glybenclamide
Glybenzcyclamide
Glyburide
Glyburide (USP)
Glyburide (micronized)
Glyburide [USAN]
 
Glycolande
Glycomin
Glynase
Glynase (TN)
HB 419
HB 420
HB-419
HB-420
HB419
HB420
HMS1361D13
HMS1568P14
HMS1791D13
HMS1922L08
HMS1989D13
HMS2089L06
HMS2093P04
HMS501I03
Hemi-Daonil
Hexaglucon
Humedia
I06-0716
IDI1_000481
IDI1_033821
KBio1_000481
KBio2_000071
KBio2_000730
KBio2_002639
KBio2_003298
KBio2_005207
KBio2_005866
KBio3_000141
KBio3_000142
KBio3_002273
KBioGR_000071
KBioGR_001897
KBioSS_000071
KBioSS_000730
LS-159295
Lederglib
Libanil
Lisaglucon
Lopac-G-0639
Lopac0_000499
MLS000069721
MLS001077262
Malix
Maninil
Med-Glionil
Melix
Micronase
Micronase (TN)
Micronized glyburide
Miglucan
MolPort-000-784-850
N-(4-(2-(5-Chloro-2-methoxybenzamido)ethyl)phenylsulfonyl)-N'-cyclohexylurea
N-p-[2-(5-Chloro-2-methoxybenzamido)-ethyl]benzene-sulfonyl-N -cyclohexylurea
N-p-[2-(5-Chloro-2-methoxybenzamido)ethyl]benzenesulfonyl-N'-cyclohexylurea
NCGC00015467-01
NCGC00015467-02
NCGC00015467-06
NCGC00015467-16
NCGC00016689-01
NCGC00023447-02
NCGC00023447-04
NCGC00023447-05
NCGC00023447-06
NCGC00023447-07
NCGC00023447-08
NCGC00023447-09
NCGC00023447-10
NCGC00023447-11
NCGC00023447-12
NINDS_000481
Nadib
Neogluconin
Norglicem 5
Normoglucon
Novo-Glyburide
Oprea1_764617
Orabetic
Pira
Praeciglucon
PresTab
Prestwick0_000316
Prestwick1_000316
Prestwick2_000316
Prestwick3_000316
Prestwick_569
Probes1_000431
Probes2_000378
Prodiabet
Renabetic
S1716_Selleck
SAM002564212
SMR000058229
SPBio_001831
SPBio_002531
SPECTRUM2300229
SR-01000000196-5
STK362992
Semi-Daonil
Semi-Euglucon
Semi-Gliben-Puren N
Semi-daonil
Spectrum2_001816
Spectrum3_001327
Spectrum4_001199
Spectrum5_001631
Spectrum_000250
Sugril
Suraben
Tiabet
Tocris-0911
U 26452
U-26452
UNII-SX6K58TVWC
UPCMLD-DP006
UPCMLD-DP006:001
UR 606
Yuglucon
ZINC00537805
glibenclamide
glyburide
2
Adenosineapproved, investigational34058-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
3Albunex145

Interventional clinical trials:

idNameStatusNCT IDPhase
1R230C and C230C Variants of ABCA1 and Glyburide ResponseCompletedNCT01456650Phase 4
2Effect of High Protein Diet on Cardiovascular Diseases Risk Factors Among Overweight and Obese ChildrenCompletedNCT01886482Phase 3
3Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese ChildrenCompletedNCT01886495Phase 3
4High Protein Weight Loss Diet, High Sensitivity C-Reactive Protein and Cardiovascular Risks Among Obese WomenCompletedNCT01763528Phase 3
5Quantitative Genetic Analysis of Lipid Research Clinic Family DataCompletedNCT00005188
6Mendelian Reverse Cholesterol Transport StudyRecruitingNCT01782027

Search NIH Clinical Center for Tangier Disease


Cochrane evidence based reviews: Tangier Disease

Genetic Tests for Tangier Disease

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Genetic tests related to Tangier Disease:

id Genetic test Affiliating Genes
1 Familial High Density Lipoprotein Deficiency22 APOA1
2 Tangier Disease22 24 ABCA1

Anatomical Context for Tangier Disease

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MalaCards organs/tissues related to Tangier Disease:

33
Liver, Heart, Tonsil, Lymph node, Spleen, Skin, Eye

Animal Models for Tangier Disease or affiliated genes

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MGI Mouse Phenotypes related to Tangier Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2ABCA1, ALB, APOA1, APOE, LCAT, NPC1
2MP:00053707.7ABCA1, ABCG1, ALB, APOA1, APOB, APOE
3MP:00053766.4ABCA1, ABCG1, ALB, APOA1, APOA2, APOB

Publications for Tangier Disease

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Articles related to Tangier Disease:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. (25875382)
2015
2
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. (26479764)
2015
3
Recurrent lobar intracerebral hemorrhage in Tangier disease. (22133743)
2012
4
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. (21763656)
2011
5
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. (19556721)
2009
6
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. (19208541)
2009
7
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. (19470903)
2009
8
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
9
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. (17560579)
2008
10
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. (16678735)
2006
11
Tangier disease: still more questions than answers. (16235041)
2005
12
The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. (15001567)
2004
13
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. (15502486)
2004
14
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)
2002
15
Coronary artery bypass grafting for a patient with Tangier disease. (12382407)
2002
16
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. (11181755)
2001
17
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. (11227043)
2001
18
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. (10845873)
2000
19
Tangier disease and ABCA1. (11111099)
2000
20
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. (10655285)
2000
21
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (10431236)
1999
22
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (10431237)
1999
23
Digestive tract involvement in an infant and a child with Tangier disease. (9702662)
1998
24
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. (9327782)
1997
25
The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency). (8707957)
1996
26
Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. (8941649)
1996
27
Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. (7615839)
1995
28
Tangier disease: an unusual diagnosis for the endoscopist. (8076579)
1994
29
The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. (7999122)
1994
30
Tangier disease: isolation and characterization of LpA-I, LpA-II, LpA-I: A-II and LpA-IV particles from plasma. (8347683)
1993
31
Aortic features in Tangier disease and pathogenetic considerations--Part I. Fatty dots and streaks. (1380464)
1992
32
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
33
Characterization of metalloelastase-like activity from the plasma of a patient with Tangier disease. (1789930)
1991
34
Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. (1701170)
1990
35
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). (3122840)
1988
36
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
37
Apoprotein A-I and lecithin: cholesterol acyltransferase in a patient with Tangier disease. (3099551)
1986
38
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. (4082916)
1985
39
Tangier disease: a disorder of intracellular membrane traffic. (2994070)
1985
40
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). (6421598)
1984
41
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
42
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. (6614036)
1983
43
Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins. (6412234)
1983
44
Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins. (6787156)
1981
45
Apoprotein A metabolism in Tangier disease. (213084)
1978
46
Tangier disease: one explanation of lipid storage. (210378)
1978
47
Peripheral nerve involvement in Tangier disease. (4361778)
1973
48
Nerve biopsy findings in two cases of Tangier disease. (4359503)
1973
49
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. (4165386)
1967
50
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). (14162531)
1964

Variations for Tangier Disease

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

67 (show all 26)
id Symbol AA change Variation ID SNP ID
1ABCA1p.Arg587TrpVAR_009146rs2853574
2ABCA1p.Trp590SerVAR_009147
3ABCA1p.Gln597ArgVAR_009148rs2853578
4ABCA1p.Asn935SerVAR_009150rs28937313
5ABCA1p.Ala937ValVAR_009151
6ABCA1p.Asp1289AsnVAR_009152
7ABCA1p.Cys1477ArgVAR_009153
8ABCA1p.Ile1517ArgVAR_009154
9ABCA1p.Asn1800HisVAR_009155
10ABCA1p.Ala255ThrVAR_012620
11ABCA1p.Thr929IleVAR_012626
12ABCA1p.Ala1046AspVAR_012627
13ABCA1p.Ser1506LeuVAR_012630
14ABCA1p.Arg2081TrpVAR_012635
15ABCA1p.Asn935HisVAR_037968rs28937314
16ABCA1p.Arg1680TrpVAR_037970rs137854498
17ABCA1p.Glu284LysVAR_062482
18ABCA1p.Tyr482CysVAR_062485
19ABCA1p.Trp590LeuVAR_062487
20ABCA1p.Trp840ArgVAR_062491
21ABCA1p.Arg1068CysVAR_062493
22ABCA1p.Leu1379PheVAR_062497
23ABCA1p.Val1704AspVAR_062501
24ABCA1p.Arg1851GlnVAR_062502
25ABCA1p.Arg1901SerVAR_062504
26ABCA1p.Gln2196HisVAR_062507

Clinvar genetic disease variations for Tangier Disease:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000039.1(APOA1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs387906570GRCh37Chr 11, 116707850: 116707850
2ABCA1NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg)single nucleotide variantPathogenicrs137854494GRCh37Chr 9, 107568557: 107568557
3ABCA1NM_005502.3(ABCA1): c.3738+1G> Csingle nucleotide variantPathogenicrs796051872GRCh37Chr 9, 107578423: 107578423
4ABCA1NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg)single nucleotide variantPathogenicrs2853578GRCh37Chr 9, 107593308: 107593308
5ABCA1NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs)deletionPathogenicrs387906413GRCh37Chr 9, 107593274: 107593274
6ABCA1NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser)single nucleotide variantPathogenicrs28937313GRCh37Chr 9, 107584801: 107584801
7ABCA1NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val)single nucleotide variantPathogenicrs137854495GRCh37Chr 9, 107584795: 107584795
8ABCA1NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser)single nucleotide variantPathogenicrs137854496GRCh37Chr 9, 107593329: 107593329
9ABCA1NM_005502.3(ABCA1)indelPathogenicGRCh38Chr 9, 104831740: 104831753
10ABCA1NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs)deletionPathogenicrs387906414GRCh37Chr 9, 107581062: 107581063
11ABCA1NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp)single nucleotide variantPathogenicrs137854501GRCh37Chr 9, 107549221: 107549221
12ABCA1ABCA1, 1-BP DEL, 2665CdeletionPathogenic
13ABCA1NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu)single nucleotide variantPathogenicrs137854497GRCh37Chr 9, 107566949: 107566949
14ABCA1NM_005502.3(ABCA1): c.2803A> C (p.Asn935His)single nucleotide variantPathogenicrs28937314GRCh37Chr 9, 107584802: 107584802
15ABCA1NG_007981.1indelPathogenic
16ABCA1NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn)single nucleotide variantPathogenicrs137854500GRCh37Chr 9, 107576435: 107576435
17ABCA1NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter)single nucleotide variantPathogenicrs137854502GRCh37Chr 9, 107593379: 107593379

Expression for genes affiliated with Tangier Disease

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Search GEO for disease gene expression data for Tangier Disease.

Pathways for genes affiliated with Tangier Disease

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ABCA1, ABCG1
29.9APOA1, APOB
39.8ABCA1, CETP
4
Show member pathways
9.7ABCA1, ABCG1, APOA1
59.6ABCA1, APOA1, APOB
6
Show member pathways
9.6ABCA1, APOA1, APOE
79.4ABCA1, ABCG1, APOA1, APOA2
89.3ALB, APOA1, APOE
99.3APOA1, APOA2, PLTP
10
Show member pathways
9.2APOA1, APOA2, APOB, APOE
11
Show member pathways
9.1ABCA1, ALB, APOA1, APOB
12
Show member pathways
9.0ALB, APOA1, APOB, APOE
13
Show member pathways
7.6ABCA1, APOA1, APOA2, APOB, APOE, CETP
14
Show member pathways
6.3ABCA1, ABCG1, ALB, APOA1, APOA2, APOB
15
Show member pathways
6.3ABCA1, ABCG1, ALB, APOA1, APOA2, APOB

GO Terms for genes affiliated with Tangier Disease

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:003436610.6APOA1, APOA2
2intermediate-density lipoprotein particleGO:003436310.4APOB, APOE
3low-density lipoprotein particleGO:003436210.4APOB, APOE
4endocytic vesicle lumenGO:007168210.2APOA1, APOB, APOE
5chylomicronGO:00426279.8APOA1, APOA2, APOB, APOE
6very-low-density lipoprotein particleGO:00343619.8APOA1, APOA2, APOB, APOE
7endoplasmic reticulum lumenGO:00057889.6APOA1, APOA2, APOB
8blood microparticleGO:00725629.6ALB, APOA1, APOA2, APOE
9high-density lipoprotein particleGO:00343649.5APOA1, APOA2, APOE, CETP, LCAT
10early endosomeGO:00057699.5APOA1, APOA2, APOB, APOE
11Golgi apparatusGO:00057949.0ABCA1, ABCG1, APOB, APOE, NPC1
12extracellular spaceGO:00056157.0ALB, APOA1, APOA2, APOB, APOE, CETP
13extracellular exosomeGO:00700626.6ALB, APOA1, APOA2, APOB, APOE, CETP
14extracellular regionGO:00055766.2ALB, APOA1, APOA2, APOB, APOE, CETP

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol storageGO:001088710.6ABCA1, ABCG1
2intracellular cholesterol transportGO:003236710.5ABCA1, ABCG1
3negative regulation of cytokine secretion involved in immune responseGO:000274010.5APOA1, APOA2
4peptidyl-methionine modificationGO:001820610.5APOA1, APOA2
5regulation of intestinal cholesterol absorptionGO:003030010.5APOA1, APOA2
6negative regulation of lipase activityGO:006019210.5APOA1, APOA2
7protein oxidationGO:001815810.5APOA1, APOA2
8negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.5APOA1, APOA2
9neuron projection regenerationGO:003110210.5APOA1, APOE
10lipoprotein catabolic processGO:004215910.5APOB, APOE
11phosphatidylcholine metabolic processGO:004647010.5CETP, LCAT
12triglyceride homeostasisGO:007032810.4APOA1, CETP
13artery morphogenesisGO:004884410.3APOB, APOE
14negative regulation of macrophage derived foam cell differentiationGO:001074510.2ABCA1, ABCG1, CETP
15regulation of Cdc42 protein signal transductionGO:003248910.2ABCA1, APOA1, APOE
16positive regulation of cholesterol esterificationGO:001087310.1APOA1, APOA2, APOE
17high-density lipoprotein particle clearanceGO:003438410.1APOA1, APOA2, APOE
18phosphatidylcholine biosynthetic processGO:000665610.1APOA1, APOA2, LCAT
19cellular lipid metabolic processGO:004425510.0ABCA1, APOA1, APOA2
20triglyceride catabolic processGO:001943310.0APOA1, APOB, APOE
21phospholipid homeostasisGO:00550919.9ABCA1, ABCG1, APOA1, CETP
22high-density lipoprotein particle assemblyGO:00343809.9ABCA1, APOA1, APOA2, APOE
23very-low-density lipoprotein particle remodelingGO:00343729.8APOA1, APOE, CETP, LCAT
24triglyceride metabolic processGO:00066419.8APOA2, APOE, CETP
25lipoprotein biosynthetic processGO:00421589.7ABCA1, APOA1, APOB, APOE, LCAT
26positive regulation of cholesterol effluxGO:00108759.6ABCA1, ABCG1, APOE, PLTP
27phospholipid effluxGO:00337009.6ABCA1, ABCG1, APOA1, APOA2, APOE
28retinoid metabolic processGO:00015239.5APOA1, APOA2, APOB, APOE
29phototransduction, visible lightGO:00076039.5APOA1, APOA2, APOB, APOE
30low-density lipoprotein particle remodelingGO:00343749.4ABCG1, APOA2, APOB, APOE, CETP
31reverse cholesterol transportGO:00436918.9ABCA1, ABCG1, APOA1, APOA2, APOE, CETP
32lipid metabolic processGO:00066298.8APOB, APOE, LCAT, LPA, PLTP
33cholesterol effluxGO:00333448.7ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
34blood coagulationGO:00075968.5ALB, APOA1, APOB, RHOG
35high-density lipoprotein particle remodelingGO:00343758.5ABCG1, APOA1, APOA2, APOE, CETP, LCAT
36receptor-mediated endocytosisGO:00068988.3ALB, APOA1, APOB, APOE, CETP, LPA
37lipid transportGO:00068698.2APOA1, APOA2, APOB, APOE, CETP, LPA
38cholesterol transportGO:00303018.2ABCG1, APOA1, APOA2, APOB, APOE, CETP
39cholesterol homeostasisGO:00426328.0ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
40cholesterol metabolic processGO:00082037.8ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
41lipoprotein metabolic processGO:00421577.5ABCA1, ABCG1, ALB, APOA1, APOA2, APOB
42small molecule metabolic processGO:00442817.2ABCA1, ABCG1, ALB, APOA1, APOA2, APOB

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:003418610.6ABCA1, LCAT
2apolipoprotein receptor bindingGO:003419010.4APOA1, APOA2
3lipase inhibitor activityGO:005510210.4APOA1, APOA2
4high-density lipoprotein particle receptor bindingGO:007065310.3APOA1, APOA2
5high-density lipoprotein particle bindingGO:000803510.2APOA1, APOA2
6apolipoprotein bindingGO:003418510.2ABCA1, LPA
7low-density lipoprotein particle receptor bindingGO:005075010.2APOB, APOE
8lipoprotein particle bindingGO:007181310.1APOA1, APOE
9antioxidant activityGO:001620910.1ALB, APOE
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.0APOA1, APOA2, APOE
11beta-amyloid bindingGO:00015409.8APOA1, APOE
12phospholipid transporter activityGO:00055489.8ABCA1, ABCG1, APOA1, CETP
13phosphatidylcholine bindingGO:00312109.7APOA1, APOA2, CETP
14heparin bindingGO:00082019.3APOB, APOE, LPA
15lipid transporter activityGO:00053199.2APOA1, APOA2, APOB, APOE, CETP
16cholesterol transporter activityGO:00171278.7ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
17phospholipid bindingGO:00055438.7ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
18cholesterol bindingGO:00154858.5ABCA1, ABCG1, APOA1, APOA2, APOE, CETP
19lipid bindingGO:00082897.8APOA1, APOA2, APOB, APOE, CETP, PLTP

Sources for Tangier Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet