HDLD1
MCID: TNG002
MIFTS: 62

Tangier Disease (HDLD1) malady

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

Aliases & Classifications for Tangier Disease

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Tangier Disease:

Name: Tangier Disease 52 11 48 24 25 54 70 27 12 50 39 13 68
Analphalipoproteinemia 25 54 70
Familial High Density Lipoprotein Deficiency Disease 48 25
Alpha High Density Lipoprotein Deficiency Disease 48 25
Familial High Density Lipoprotein Deficiency 11 24
Hypoalphalipoproteinemia, Familial 24 68
Hdl Lipoprotein Deficiency Disease 48 25
Familial Hypoalphalipoproteinemia 11 25
a-Alphalipoprotein Neuropathy 48 25
Cholesterol Thesaurismosis 48 25
Tangier Disease Neuropathy 25 68
Familial Hdl Deficiency 24 68
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 54
 
High Density Lipoprotein Deficiency, Tangier Type 48
Atp-Binding Cassette Transporter A1 Deficiency 54
Lipoprotein Deficiency Disease, Hdl, Familial 25
High Density Lipoprotein Deficiency, Type 1 48
Familial Alpha-Lipoprotein Deficiency 11
High Density Lipoprotein Deficiency 1 70
Familial Hypoalphalipo-Proteinemia 48
Tangier Hereditary Neuropathy 25
Analphalipo-Proteinemia 48
Hdldt1 48
Hdld1 70
Tgd 70

Characteristics:

Orphanet epidemiological data:

54
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
tangier disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 205400
Disease Ontology11 DOID:1388
ICD1030 E78.6
MeSH39 D013631
NCIt45 C85182
SNOMED-CT62 15346004, 190783007
Orphanet54 ORPHA31150
ICD10 via Orphanet31 E78.6
MESH via Orphanet40 D013631
UMLS via Orphanet69 C0039292
MedGen37 C0039292

Summaries for Tangier Disease

About this section
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 hypertriglyceridemia and abca1-associated familial high density lipoprotein deficiency, and has symptoms including dry skin, dry skin and Array. An important gene associated with Tangier Disease is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways are Nuclear Receptors in Lipid Metabolism and Toxicity and Vitamin digestion and absorption. Affiliated tissues include liver, tonsil and heart, and related mouse phenotypes are Decreased free cholesterol and liver/biliary system.

NIH Rare Diseases:48 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:52 Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density... (205400) more...

UniProtKB/Swiss-Prot:70 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:71 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a... more...

Related Diseases for Tangier Disease

About this section

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1hypertriglyceridemia30.4ABCA1, APOA1, APOA2, APOB, APOE, CETP
2abca1-associated familial high density lipoprotein deficiency12.3
3abca1-related familial high density lipoprotein deficiency12.3
4apoa1-associated familial high density lipoprotein deficiency12.3
5hypoalphalipoproteinemia11.1
6arena syndrome10.3APOA1, LCAT
7lipoprotein glomerulopathy10.2APOE, LCAT
8hyperchlorhidrosis, isolated10.2APOA1, APOE
9tyrosinemia, type ii10.2APOA1, APOA2, LCAT
10pars planitis10.2APOA1, APOE
1147,xyy syndrome10.2LCAT, NPC1
12anaplastic ganglioglioma10.1APOA1, LCAT, LPA
13neuropathy10.1
14iron metabolism disease10.1APOE, PLTP
15asphyxia neonatorum10.1ABCA1, APOE, LPA
16van maldergem syndrome 210.1APOA1, APOA2, LPA
17catel-manzke syndrome10.1
18hard palate cancer10.1APOA1, APOA2, APOE
19zap-70 deficiency10.0APOB, APOE
20female infertility of uterine origin10.0ALB, LCAT
21keratoconus 410.0APOB, APOE
22syringomyelia10.0
23thymus adenosquamous carcinoma10.0APOA1, APOA2, LCAT
24hereditary lymphedema type ii10.0APOA1, APOA2
25dyserythropoietic anemia, congenital, type ii10.0APOA1, APOE, LCAT, LPA
26atherosclerosis10.0
27severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome10.0ABCA1, APOB, APOE
28fetal warfarin syndrome10.0APOA1, APOB, LCAT
29dentinogenesis imperfecta type 29.9APOB, APOE, LCAT
30joint disorders9.9APOA1, APOB, APOE
31craniodiaphyseal dysplasia9.9APOA1, APOB
32hypercholesterolemia, due to ligand-defective apo b9.9APOB, APOE, LCAT
33primary pigmented nodular adrenocortical disease9.9APOA1, APOB, APOE
34spinocerebellar ataxia 209.9APOA1, APOB, LPA
35heart disease9.9
36cervix small cell carcinoma9.9APOA1, APOB, APOE
37posterior uveal melanoma9.9APOA1, APOB, NPC1
38bleeding disorder, east texas type9.8APOA1, APOA2, APOB, APOE
39leprosy9.8
40fish-eye disease9.8
41polyneuropathy9.8
42eye disease9.8
43familial progressive cardiac conduction defect9.8ALB, APOA1, APOA2, APOE, LCAT
44optic nerve neoplasm9.8APOA1, APOB, APOE, LPA
45myelophthisic anemia9.8APOA1, APOB, APOE, LPA
46malignant hyperthermia susceptibility 19.8ALB, APOB, LPA
47camptodactyly-arthropathy-coxa vara-pericarditis syndrome9.8ABCA1, APOB, APOE, CETP
48body dysmorphic disorder9.8ALB, APOA1, APOB
49exudative vitreoretinopathy 2, x-linked9.8ALB, APOB
50mannosidosis, beta9.7APOA1, APOB, APOE, CETP, LCAT

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



Diseases related to tangier disease

Symptoms & Phenotypes for Tangier Disease

About this section

Symptoms by clinical synopsis from OMIM:

205400

Clinical features from OMIM:

205400

Human phenotypes related to Tangier Disease:

 54 64 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia64 54 Very frequent (99-80%) HP:0002155
2 hypocholesterolemia64 54 Very frequent (99-80%) HP:0003146
3 ectropion64 54 Frequent (79-30%) HP:0000656
4 dry skin64 54 Frequent (79-30%) HP:0000958
5 hepatosplenomegaly64 54 Frequent (79-30%) HP:0001433
6 abdominal pain64 54 Frequent (79-30%) HP:0002027
7 distal muscle weakness64 54 Frequent (79-30%) HP:0002460
8 chronic noninfectious lymphadenopathy64 54 Frequent (79-30%) HP:0002730
9 peripheral axonal neuropathy64 54 Frequent (79-30%) HP:0003477
10 accelerated atherosclerosis64 54 Frequent (79-30%) HP:0004943
11 coronary artery stenosis64 54 Frequent (79-30%) HP:0005145
12 progressive peripheral neuropathy64 54 Frequent (79-30%) HP:0007133
13 nail dystrophy64 54 Frequent (79-30%) HP:0008404
14 orange discoloured tonsils64 54 Frequent (79-30%) HP:0030814
15 facial diplegia64 54 Occasional (29-5%) HP:0001349
16 left ventricular hypertrophy64 54 Occasional (29-5%) HP:0001712
17 thrombocytopenia64 54 Occasional (29-5%) HP:0001873
18 anemia64 54 Occasional (29-5%) HP:0001903
19 syringomyelia64 54 Occasional (29-5%) HP:0003396
20 impaired thermal sensitivity64 54 Occasional (29-5%) HP:0006901
21 corneal opacity64 54 Occasional (29-5%) HP:0007957
22 carotid artery stenosis64 54 Occasional (29-5%) HP:0100546
23 visual impairment64 HP:0000505
24 hyporeflexia64 HP:0001265
25 myocardial infarction64 HP:0001658
26 splenomegaly64 HP:0001744
27 nail dysplasia64 HP:0002164
28 hepatomegaly64 HP:0002240
29 hypoalphalipoproteinemia64 HP:0003233
30 distal amyotrophy64 HP:0003693
31 impaired pain sensation64 HP:0007328
32 opacification of the corneal stroma64 HP:0007759
33 impaired temperature sensation64 HP:0010829
34 peripheral demyelination64 HP:0011096

UMLS symptoms related to Tangier Disease:


dry skin

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-28.0ABCA1, APOA1, APOB, APOE, CETP, LPA

MGI Mouse Phenotypes related to Tangier Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3ABCA1, ABCG1, ALB, APOA1, APOB, APOE
2MP:00053918.1ABCA1, APOB, APOE, LCAT, NPC1, PLTP
3MP:00053767.4ABCA1, ABCG1, ALB, APOA1, APOA2, APOB

Drugs & Therapeutics for Tangier Disease

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlyburideapprovedPhase 411410238-21-83488
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
2Hypoglycemic AgentsPhase 45896
3
Adenosineapproved, investigational41958-61-760961
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 (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
4Pharmaceutical Solutions8192

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 StudyActive, not recruitingNCT01782027

Search NIH Clinical Center for Tangier Disease


Cochrane evidence based reviews: tangier disease

Genetic Tests for Tangier Disease

About this section

Genetic tests related to Tangier Disease:

id Genetic test Affiliating Genes
1 Tangier Disease27 24 ABCA1
2 Familial High Density Lipoprotein Deficiency24 APOA1

Anatomical Context for Tangier Disease

About this section

MalaCards organs/tissues related to Tangier Disease:

36
Liver, Tonsil, Heart, Spleen, Lymph node, Skin, Eye

Publications for Tangier Disease

About this section

Articles related to Tangier Disease:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
The iPSC Awakens ANGPTL3 in Tangier Disease. (28392245)
2017
2
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. (26616730)
2016
3
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation. (27853448)
2016
4
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. (25875382)
2015
5
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. (26479764)
2015
6
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. (25308558)
2014
7
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. (25227739)
2014
8
Tangier disease in a Turkish family. (25335997)
2014
9
Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability. (24196952)
2013
10
Plasma amyloid-I^ in patients with Tangier disease. (23388172)
2013
11
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. (23351586)
2013
12
Platelet activating factor levels and metabolism in Tangier disease: a case study. (22769014)
2012
13
Tangier disease: epidemiology, pathophysiology, and management. (22913675)
2012
14
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. (22959828)
2012
15
Recurrent lobar intracerebral hemorrhage in Tangier disease. (22133743)
2012
16
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. (22179783)
2012
17
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. (23430904)
2012
18
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. (21763656)
2011
19
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-I^ production independent of cholesterol efflux activity. (21860089)
2011
20
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. (21844573)
2011
21
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. (19765707)
2010
22
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. (20093111)
2010
23
Tangier disease phenotype diversity in dizygous twin sisters. (20070997)
2010
24
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. (19344898)
2009
25
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. (19556721)
2009
26
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. (19208541)
2009
27
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. (19470903)
2009
28
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. (19723515)
2009
29
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
30
An unusual presentation of Tangier disease with gallbladder involvement. (19317282)
2008
31
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. (17560579)
2008
32
Lewis-Sumner syndrome and Tangier disease. (18625867)
2008
33
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. (18787473)
2008
34
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. (18374163)
2008
35
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. (17434146)
2007
36
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. (16678735)
2006
37
Tangier disease four decades of research: a reflection of the importance of HDL. (16611066)
2006
38
Gastric mucosa appearance in a patient with Tangier disease. (17094727)
2006
39
Tangier disease: still more questions than answers. (16235041)
2005
40
Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). (15163665)
2004
41
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. (15384103)
2004
42
Tangier disease--a diagnostic challenge in countries endemic for leprosy. (14742612)
2004
43
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. (15502486)
2004
44
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
45
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. (14747463)
2004
46
Tangier disease. (15314143)
2004
47
HDL deficiency and atherosclerosis: lessons from Tangier disease. (14746569)
2004
48
Tangier disease with unusual clinical manifestations. (12702168)
2003
49
Tonsil with Tangier disease. (12696235)
2003
50
Falciparum malaria and Tangier disease. (12718813)
2003

Variations for Tangier Disease

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

70 (show all 26)
id Symbol AA change Variation ID SNP ID
1ABCA1p.Arg587TrpVAR_009146rs2853574
2ABCA1p.Trp590SerVAR_009147rs137854496
3ABCA1p.Gln597ArgVAR_009148rs2853578
4ABCA1p.Asn935SerVAR_009150rs28937313
5ABCA1p.Ala937ValVAR_009151rs137854495
6ABCA1p.Asp1289AsnVAR_009152rs137854500
7ABCA1p.Cys1477ArgVAR_009153rs137854494
8ABCA1p.Ile1517ArgVAR_009154
9ABCA1p.Asn1800HisVAR_009155rs146292819
10ABCA1p.Ala255ThrVAR_012620rs758100110
11ABCA1p.Thr929IleVAR_012626
12ABCA1p.Ala1046AspVAR_012627rs141021096
13ABCA1p.Ser1506LeuVAR_012630rs137854497
14ABCA1p.Arg2081TrpVAR_012635rs137854501
15ABCA1p.Asn935HisVAR_037968rs28937314
16ABCA1p.Arg1680TrpVAR_037970rs137854498
17ABCA1p.Glu284LysVAR_062482
18ABCA1p.Tyr482CysVAR_062485
19ABCA1p.Trp590LeuVAR_062487rs137854496
20ABCA1p.Trp840ArgVAR_062491
21ABCA1p.Arg1068CysVAR_062493rs745593394
22ABCA1p.Leu1379PheVAR_062497
23ABCA1p.Val1704AspVAR_062501
24ABCA1p.Arg1851GlnVAR_062502
25ABCA1p.Arg1901SerVAR_062504
26ABCA1p.Gln2196HisVAR_062507rs564764153

Clinvar genetic disease variations for Tangier Disease:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1APOA1NM_ 000039.2(APOA1): c.67C> T (p.Gln23Ter)SNVPathogenicrs387906570GRCh37Chr 11, 116707850: 116707850
2ABCA1NM_ 005502.3(ABCA1): c.2803A> G (p.Asn935Asp)SNVLikely pathogenicrs28937314GRCh38Chr 9, 104822521: 104822521
3ABCA1NM_ 005502.3(ABCA1): c.4429T> C (p.Cys1477Arg)SNVPathogenicrs137854494GRCh37Chr 9, 107568557: 107568557
4ABCA1NM_ 005502.3(ABCA1): c.3738+1G> CSNVPathogenicrs796051872GRCh37Chr 9, 107578423: 107578423
5ABCA1NM_ 005502.3(ABCA1): c.1790A> G (p.Gln597Arg)SNVPathogenicrs2853578GRCh37Chr 9, 107593308: 107593308
6ABCA1NM_ 005502.3(ABCA1): c.1824delG (p.Thr609Argfs)deletionPathogenicrs387906413GRCh37Chr 9, 107593274: 107593274
7ABCA1NM_ 005502.3(ABCA1): c.2804A> G (p.Asn935Ser)SNVPathogenicrs28937313GRCh37Chr 9, 107584801: 107584801
8ABCA1NM_ 005502.3(ABCA1): c.2810C> T (p.Ala937Val)SNVPathogenicrs137854495GRCh37Chr 9, 107584795: 107584795
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)SNVPathogenicrs137854501GRCh37Chr 9, 107549221: 107549221
12ABCA1ABCA1, 1-BP DEL, 2665CdeletionPathogenic
13ABCA1NM_ 005502.3(ABCA1): c.4517C> T (p.Ser1506Leu)SNVPathogenicrs137854497GRCh37Chr 9, 107566949: 107566949
14ABCA1NM_ 005502.3(ABCA1): c.2803A> C (p.Asn935His)SNVPathogenicrs28937314GRCh37Chr 9, 107584802: 107584802
15ABCA1NG_ 007981.1: g.[101177_ 102434delins36;107248_ 127198delins21]indelPathogenic
16ABCA1NM_ 005502.3(ABCA1): c.3865G> A (p.Asp1289Asn)SNVPathogenicrs137854500GRCh37Chr 9, 107576435: 107576435
17ABCA1NM_ 005502.3(ABCA1): c.1719C> A (p.Tyr573Ter)SNVPathogenicrs137854502GRCh37Chr 9, 107593379: 107593379
18ABCA1NM_ 005502.3(ABCA1): c.656G> A (p.Arg219Lys)SNVprotectivers2230806GRCh37Chr 9, 107620867: 107620867

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 pathwaysScoreTop Affiliating Genes
19.9ABCA1, ABCG1
29.8APOA1, APOB
39.8ABCA1, CETP
4
Show member pathways
9.6ABCA1, APOA1, APOB
59.4ABCA1, ABCG1, APOA1, APOA2
69.3ALB, APOA1, APOE
79.3APOA1, APOA2, PLTP
89.3APOA1, APOA2, PLTP
9
Show member pathways
9.2APOA1, APOA2, APOB, APOE
10
Show member pathways
9.2APOA1, APOA2, APOB, APOE
11
Show member pathways
9.0ALB, APOA1, APOB, APOE
12
Show member pathways
8.7ABCA1, ALB, APOA1, APOB, APOE
13
Show member pathways
7.6ABCA1, APOA1, APOA2, APOB, APOE, CETP
14
Show member pathways
5.8ABCA1, ABCG1, ALB, APOA1, APOA2, APOB
15
Show member pathways
5.8ABCA1, 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 13)
idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:007168210.3APOA1, APOB, APOE
2spherical high-density lipoprotein particleGO:003436610.2APOA1, APOA2
3chylomicronGO:004262710.0APOA1, APOA2, APOB, APOE
4early endosomeGO:000576910.0APOA1, APOA2, APOB, APOE
5intermediate-density lipoprotein particleGO:00343639.9APOA1, APOB, APOE
6low-density lipoprotein particleGO:00343629.9APOA1, APOB, APOE
7blood microparticleGO:00725629.8ALB, APOA1, APOA2, APOE
8endoplasmic reticulum lumenGO:00057889.5ALB, APOA1, APOA2, APOB, APOE
9very-low-density lipoprotein particleGO:00343619.2APOA1, APOA2, APOB, APOE
10high-density lipoprotein particleGO:00343649.0ABCA1, APOA1, APOA2, APOE, CETP, LCAT
11extracellular spaceGO:00056157.8ALB, APOA1, APOA2, APOB, APOE, CETP
12extracellular exosomeGO:00700627.4ALB, APOA1, APOA2, APOB, APOE, CETP
13extracellular regionGO:00055767.1ALB, APOA1, APOA2, APOB, APOE, CETP

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

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1intracellular cholesterol transportGO:003236710.7ABCA1, ABCG1
2negative regulation of cholesterol storageGO:001088710.7ABCA1, ABCG1
3regulation of high-density lipoprotein particle assemblyGO:009010710.7ABCA1, LCAT
4negative regulation of cytokine secretion involved in immune responseGO:000274010.7APOA1, APOA2
5negative regulation of lipase activityGO:006019210.7APOA1, APOA2
6negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.7APOA1, APOA2
7peptidyl-methionine modificationGO:001820610.7APOA1, APOA2
8protein oxidationGO:001815810.6APOA1, APOA2
9regulation of intestinal cholesterol absorptionGO:003030010.6APOA1, APOA2
10neuron projection regenerationGO:003110210.6APOA1, APOE
11artery morphogenesisGO:004884410.5APOB, APOE
12chylomicron remnant clearanceGO:003438210.5APOB, APOE
13phosphatidylcholine metabolic processGO:004647010.5CETP, LCAT
14lipoprotein catabolic processGO:004215910.5APOB, APOE
15lipid homeostasisGO:005508810.5APOE, CETP
16regulation of lipid metabolic processGO:001921610.4ABCA1, APOA1, APOA2
17regulation of Cdc42 protein signal transductionGO:003248910.4ABCA1, APOA1, APOE
18phosphatidylcholine biosynthetic processGO:000665610.4APOA1, APOA2, LCAT
19low-density lipoprotein particle clearanceGO:003438310.4APOB, NPC1
20high-density lipoprotein particle clearanceGO:003438410.3APOA1, APOA2, APOE
21phospholipid transportGO:001591410.3ABCA1, APOA1, CETP
22positive regulation of cholesterol esterificationGO:001087310.3APOA1, APOA2, APOE
23negative regulation of macrophage derived foam cell differentiationGO:001074510.3ABCA1, ABCG1, CETP
24high-density lipoprotein particle assemblyGO:003438010.1ABCA1, APOA1, APOA2, APOE
25phospholipid homeostasisGO:005509110.0ABCA1, ABCG1, APOA1, CETP
26triglyceride catabolic processGO:001943310.0APOA1, APOB, APOE
27chylomicron assemblyGO:00343789.9APOA1, APOA2, APOB, APOE
28chylomicron remodelingGO:00343719.9APOA1, APOA2, APOB, APOE
29very-low-density lipoprotein particle clearanceGO:00344479.9APOB, APOE
30triglyceride homeostasisGO:00703289.9APOA1, APOE, CETP
31retinoid metabolic processGO:00015239.9APOA1, APOA2, APOB, APOE
32response to drugGO:00424939.9ABCA1, APOA1, APOA2, NPC1
33phospholipid effluxGO:00337009.8ABCA1, ABCG1, APOA1, APOA2, APOE
34positive regulation of cholesterol effluxGO:00108759.7ABCA1, ABCG1, APOE, PLTP
35triglyceride metabolic processGO:00066419.7APOA2, APOE, CETP
36cellular protein metabolic processGO:00442679.4ALB, APOA1, APOA2, APOB, APOE
37very-low-density lipoprotein particle remodelingGO:00343729.4APOE, CETP, LCAT
38post-translational protein modificationGO:00436879.4ALB, APOA1, APOA2, APOB, APOE
39lipoprotein biosynthetic processGO:00421589.4ABCA1, APOA1, APOA2, APOB, APOE, LCAT
40low-density lipoprotein particle remodelingGO:00343749.1ABCG1, APOA2, APOB, APOE, CETP, LPA
41reverse cholesterol transportGO:00436919.0ABCA1, ABCG1, APOA1, APOA2, APOE, CETP
42cholesterol effluxGO:00333448.9ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
43receptor-mediated endocytosisGO:00068988.8ALB, APOA1, APOB, APOE, CETP, NPC1
44steroid metabolic processGO:00082028.7ABCA1, APOA1, APOB, APOE, CETP, LCAT
45cholesterol transportGO:00303018.5ABCA1, ABCG1, APOA1, APOA2, APOB, CETP
46high-density lipoprotein particle remodelingGO:00343758.2ABCG1, ALB, APOA1, APOA2, APOE, CETP
47cholesterol homeostasisGO:00426328.2ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
48cholesterol metabolic processGO:00082038.2ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
49lipoprotein metabolic processGO:00421577.7ABCA1, ABCG1, ALB, APOA1, APOA2, APOB
50lipid metabolic processGO:00066297.7ABCA1, APOA1, APOB, APOE, CETP, LCAT

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:003418610.6ABCA1, LCAT
2apolipoprotein receptor bindingGO:003419010.6APOA1, APOA2
3high-density lipoprotein particle bindingGO:000803510.5APOA1, APOA2
4high-density lipoprotein particle receptor bindingGO:007065310.5APOA1, APOA2
5lipase inhibitor activityGO:005510210.5APOA1, APOA2
6apolipoprotein bindingGO:003418510.4ABCA1, LPA
7lipoprotein particle bindingGO:007181310.4APOA1, APOE
8low-density lipoprotein particle receptor bindingGO:005075010.3APOB, APOE
9antioxidant activityGO:001620910.3ALB, APOE
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.1APOA1, APOA2, APOE
11phosphatidylcholine bindingGO:003121010.0APOA1, APOA2, CETP
12heparin bindingGO:000820110.0APOB, APOE, LPA
13phospholipid transporter activityGO:00055489.3ABCA1, ABCG1, APOA1, CETP
14phospholipid bindingGO:00055438.9ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
15cholesterol transporter activityGO:00171278.9ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
16lipid transporter activityGO:00053198.8APOA1, APOA2, APOB, APOE, CETP, NPC1
17cholesterol bindingGO:00154858.7ABCA1, ABCG1, APOA1, APOA2, APOE, CETP
18lipid bindingGO:00082898.2ALB, APOA1, APOA2, APOB, APOE, CETP

Sources for Tangier Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet