MCID: TNG002
MIFTS: 59

Tangier Disease malady

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

Aliases & Classifications for Tangier Disease

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tangier Disease:

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

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

HPO:

61
tangier disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 205400
Disease Ontology10 DOID:1388
ICD1027 E78.6
MeSH36 D013631
NCIt42 C85182
SNOMED-CT59 15346004, 190783007
Orphanet51 31150
ICD10 via Orphanet28 E78.6
MESH via Orphanet37 D013631
UMLS via Orphanet66 C0039292
MedGen34 C0039292
UMLS65 C0039292, C1704429, C2931838 C0751544, more

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 analphalipoproteinemia, is related to coronary artery disease and myocardial infarction, and has symptoms including peripheral demyelination, impaired temperature sensation and nail dystrophy. 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, heart and lymph node, and related mouse phenotypes are vision/eye 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 224)
idRelated DiseaseScoreTop Affiliating Genes
1coronary artery disease28.3ABCA1, APOA1, APOA2, APOB, APOE, CETP
2myocardial infarction27.9ALB, APOA1, APOA2, APOB, APOE, CETP
3abca1-associated familial high density lipoprotein deficiency12.8
4abca1-related familial high density lipoprotein deficiency12.8
5apoa1-associated familial high density lipoprotein deficiency12.8
6alcoholic hepatitis10.4
7hereditary antithrombin deficiency10.4APOA1, APOA2
8alzheimer disease-210.3APOE, LCAT
9hypoalphalipoproteinemia10.3
10hypertriglyceridemia10.3
11rheumatoid arthritis10.3
12arthritis10.3
13lymphoma10.3
14extensor tendons of finger anomalies10.2ABCA1, APOA1, CETP
15spinocerebellar ataxia 410.2APOA1, APOA2, LCAT
16hepatitis10.2
17adenocarcinoma10.2
18amyloidosis beta2m10.2APOA1, LCAT, LPA
19pigmentary cirrhosis10.2APOE, PLTP
20burning mouth syndrome10.2APOE, NPC1
21atrioventricular septal defect 510.2ABCA1, NPC1
22cholestasis10.2ALB, LCAT
23afibrinogenemia, congenital10.2APOA1, APOA2, LPA
24leukemia10.1
25esophagitis10.1
26hepatitis c10.1
27ovarian cancer10.1
28ischemia10.1
29tuberculosis10.1
30melorheostosis10.1
31pneumonia10.1
32neuropathy10.1
33cardiomyopathy10.1
34pituitary tumors10.1
35ulcer of lower limbs10.1ALB, APOE
36lipoprotein glomerulopathy10.0APOE, CETP
37metaphyseal dysplasia10.0APOA1, APOB
38hypercholesterolemia, due to ligand-defective apo b10.0APOB, APOE
39legg-calve-perthes disease10.0APOA1, APOB
40adult endodermal sinus tumor10.0ALB, APOA1
41schizophrenia10.0
42gastrointestinal stromal tumor10.0
43neuroblastoma10.0
44systemic lupus erythematosus10.0
45neural tube defects10.0
46lung cancer10.0
47hiv-110.0
48muckle-wells syndrome10.0
49breast cancer10.0
50obesity10.0

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

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 410710238-21-83488
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 44503
3
Adenosineapproved, investigational36358-61-760961
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
4Pharmaceutical Solutions7004

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 ABCA1

Anatomical Context for Tangier Disease

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MalaCards organs/tissues related to Tangier Disease:

33
Liver, Heart, Lymph node, Spleen, Tonsil, 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:00053918.0ABCA1, APOB, APOE, LCAT, NPC1, PLTP
2MP:00053707.7ABCA1, ABCG1, ALB, APOA1, APOB, APOE
3MP:00053766.7ABCA1, 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
Clinical Evaluation of the OneStep Gonorrhea RapiCard InstaTest for Detection of Neisseria gonorrhoeae in Symptomatic Patients from KwaZulu-Natal, South Africa. (25609726)
2015
2
CCN2 Expression by Tumor Stroma Is Required for Melanoma Metastasis. (26168233)
2015
3
Implications of National Anesthesia Workload on the Staffing of a Call Center: The Malignant Hyperthermia Consultant Hotline. (26230307)
2015
4
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. (24529908)
2014
5
The role of exercise echocardiography in the management of mitral valve disease. (23959848)
2013
6
Endovascular repair of ruptured aberrant left subclavian artery with right aortic arch. (23336883)
2013
7
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. (22466347)
2012
8
Mutant surfactant A2 proteins associated with familial pulmonary fibrosis and lung cancer induce TGF-I^1 secretion. (23223528)
2012
9
Solitary osteochondroma of the twelfth rib with intraspinal extension and cord compression in a middle-aged patient. (22498251)
2012
10
Sensory Loss Mimicking Cauda Equina Syndrome due to Cervical Spinal Lesion in a Patient with Clinically Isolated Syndrome. (22740824)
2012
11
Chinese version of the Postpartum Depression Screening Scale: translation and validation. (21691238)
2011
12
Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease. (20443975)
2010
13
A 25-year-old woman with a mass in the hippocampus. (20438470)
2010
14
Spectral analysis of heart rate variability in patients with Machado-Joseph disease. (20060786)
2010
15
Scheuermann's Disease of the Thoracolumbar Spine in a Boy. (25610136)
2010
16
Human T cell lymphotropic virus 1 manipulates interferon regulatory signals by controlling the TAK1-IRF3 and IRF4 pathways. (19955181)
2010
17
Acidic mammalian chitinase in dry eye conditions. (19512904)
2009
18
Common variable immunodeficiency: a new look at an old disease. (18692715)
2008
19
c-myc antisense oligonucleotides sensitize human colorectal cancer cells to chemotherapeutic drugs. (18802399)
2008
20
Safety, efficacy and anti-inflammatory activity of rho iso-alpha-acids from hops. (18358504)
2008
21
Therapeutic approaches to developmental disabilities in young children. (17824270)
2007
22
Autistic disorder in 2 children with mitochondrial disorders. (17890412)
2007
23
Reduction of invasion in human fibrosarcoma cells by ribosomal protein S3 in conjunction with Nm23-H1 and ERK. (16814409)
2006
24
Decline in serum carcinoembryonic antigen and cytokeratin 19 fragment during chemotherapy predicts objective response and survival in patients with advanced nonsmall cell lung cancer. (17103443)
2006
25
Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review. (16495466)
2006
26
Combined analysis of COX-2 and p53 expressions reveals synergistic inverse correlations with microsatellite instability and CpG island methylator phenotype in colorectal cancer. (16820091)
2006
27
Folding studies of Cox17 reveal an important interplay of cysteine oxidation and copper binding. (15893662)
2005
28
Intestinal adaptation in short bowel syndrome. (16354579)
2005
29
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027)
2004
30
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. (15070970)
2004
31
Clinical role of beta-lactam/beta-lactamase inhibitor combinations. (12834367)
2003
32
Expression of heat shock protein 70 in the cochlea in experimental autoimmune inner ear disease. (11913688)
2002
33
Use of inhaled nitric oxide for emergency Cesarean section in a woman with unexpected primary pulmonary hypertension. (11444454)
2001
34
Imaging of neuroendocrine gastro-entero-pancreatic tumours using radiolabelled somatostatin analogues. (10604128)
1999
35
A 3 year old girl with fibrodysplasia ossificans progressiva. (10646326)
1999
36
Melanoma x macrophage fusion hybrids acquire increased melanogenesis and metastatic potential: altered N-glycosylation as an underlying mechanism. (9877101)
1998
37
Intrahepatic cholestasis of pregnancy. (9638904)
1998
38
Amplification of BCR protein associated with oncogenesis in human hepatocellular carcinoma. (9149044)
1997
39
Inconstant apolipoprotein E (ApoE)-like immunoreactivity in amyloid beta protein deposits: relationship with APOE genotype in aging brain and Alzheimer's disease. (8841664)
1996
40
Cloning of human cDNA encoding a novel heptahelix receptor expressed in Burkitt's lymphoma and widely distributed in brain and peripheral tissues. (8920907)
1996
41
Systemic vasculitis complicating infantile autoimmune enteropathy. (7618925)
1995
42
Differential effects of interleukin-10 on the expression of HLA class II and CD1 molecules induced by granulocyte/macrophage colony-stimulating factor/interleukin-4. (7589112)
1995
43
Activity-dependent enhancement of synaptic transmission in hippocampal slices treated with the phosphatase inhibitor calyculin A. (7931558)
1994
44
Variation of mouse oocyte sensitivity to griseofulvin-induced aneuploidy and meiotic delay during the first meiotic division. (8162891)
1994
45
Giardiasis. (1431762)
1992
46
Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells. (1719400)
1991
47
MR imaging of spastic diplegia. Comparative study between preterm and term infants. (2215901)
1990
48
Tuberculous peritonitis in pregnancy. A follow-up. (2930750)
1989
49
Multisystem presentation of eosinophilic fasciitis. (7134742)
1982
50
Granular cell myoblastoma of the soft palate. Report of a case. (210132)
1978

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_062507rs564764153

Clinvar genetic disease variations for Tangier Disease:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000039.2(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 pathwaysScoreTop 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
8
Show member pathways
9.3APOA1, APOA2, PLTP
9
Show member pathways
9.2APOA1, APOA2, APOB, APOE
10
Show member pathways
9.2APOA1, APOA2, APOB, APOE
11
Show member pathways
9.1ABCA1, 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:

idNameGO IDScoreTop Affiliating Genes
1early endosomeGO:00057699.2APOA1, APOA2, APOB, APOE
2endoplasmic reticulumGO:00057838.7ALB, APOB, APOE, NPC1

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of macrophage derived foam cell differentiationGO:001074510.6ABCA1, ABCG1
2peptidyl-methionine modificationGO:001820610.5APOA1, APOA2
3high-density lipoprotein particle assemblyGO:003438010.5ABCA1, APOE
4neuron projection regenerationGO:003110210.5APOA1, APOE
5positive regulation of cholesterol effluxGO:001087510.4ABCG1, APOE
6intracellular cholesterol transportGO:003236710.4ABCA1, ABCG1
7organ regenerationGO:003110010.3APOA1, APOA2
8lipoprotein catabolic processGO:004215910.3APOB, APOE
9phosphatidylcholine metabolic processGO:004647010.3CETP, LCAT
10triglyceride catabolic processGO:001943310.3APOB, APOE
11phospholipid transportGO:001591410.3ABCA1, CETP
12protein oxidationGO:001815810.3APOA1, APOA2
13cholesterol metabolic processGO:000820310.2APOB, APOE
14very-low-density lipoprotein particle remodelingGO:003437210.2APOE, CETP
15triglyceride homeostasisGO:007032810.2APOA1, CETP
16positive regulation of cholesterol esterificationGO:001087310.1APOA1, APOA2, APOE
17lipoprotein biosynthetic processGO:004215810.1APOA1, APOA2, APOE
18phospholipid homeostasisGO:005509110.1ABCA1, APOA1, CETP
19low-density lipoprotein particle remodelingGO:003437410.0APOA2, APOB, APOE
20phosphatidylcholine biosynthetic processGO:000665610.0APOA1, APOA2, LCAT
21lipoprotein metabolic processGO:00421579.8ABCA1, ABCG1, LPA
22phospholipid effluxGO:00337009.8ABCG1, APOA1, APOA2, APOE
23retinoid metabolic processGO:00015239.8APOA1, APOB, APOE
24triglyceride metabolic processGO:00066419.7APOA2, APOE, CETP
25cellular oxidant detoxificationGO:00988699.7ALB, APOE
26lipid metabolic processGO:00066299.7APOB, APOE, LCAT
27response to organic substanceGO:00100339.7ABCG1, ALB
28reverse cholesterol transportGO:00436919.5ABCA1, APOA1, APOA2, APOE, LCAT
29cholesterol transportGO:00303019.5ABCA1, APOA2, CETP, LCAT
30receptor-mediated endocytosisGO:00068989.4APOA1, APOE, CETP
31phototransduction, visible lightGO:00076039.3APOA1, APOA2, APOB, APOE
32platelet activationGO:00301689.0ALB, APOA1, RHOG
33high-density lipoprotein particle remodelingGO:00343758.9APOA1, APOA2, CETP, LCAT, PLTP
34cholesterol homeostasisGO:00426328.9ABCA1, APOA2, APOE, NPC1
35cholesterol effluxGO:00333448.5ABCA1, ABCG1, APOA1, APOA2, APOB, APOE
36lipid transportGO:00068698.3APOA2, APOB, APOE, CETP, LPA, PLTP

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:001712710.0ABCG1, APOA1
2high-density lipoprotein particle bindingGO:00080359.9APOA1, APOA2
3high-density lipoprotein particle receptor bindingGO:00706539.6APOA1, APOA2

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