Aliases & Classifications for Xanthomatosis

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Aliases & Descriptions for Xanthomatosis:

Name: Xanthomatosis 11 27 50 39 13 68
 
Xanthelasmatosis 11

Classifications:



External Ids:

Disease Ontology11 DOID:3345
SNOMED-CT62 63103006
MeSH39 D014973

Summaries for Xanthomatosis

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Disease Ontology:11 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.

MalaCards based summary: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia, and has symptoms including xanthomatosis, hypercholesterolemia and dry skin. An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and Metformin Pathway, Pharmacodynamics. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are Increased LDL uptake and Decreased free cholesterol.

Related Diseases for Xanthomatosis

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis32.4CYP27A1, CYP7A1, HMGCR, NR1H4, NR1I2, VCL
2sitosterolemia31.7APOB, CYP27A1, CYP7A1, HMGCR
3polyneuropathy29.5APOB, APOE, LPA
4arthritis28.7APOE, LDLR, LPA
5coronary artery disease27.9APOB, APOE, HMGCR, LDLR, LPA
6myocardial infarction27.5APOB, APOE, HMGCR, LDLR, LPA
7wolman disease11.4
8hyperlipidemia type 311.0
9lipoprotein lipase deficiency10.8
10dysmorphism-pectus carinatum-joint laxity syndrome10.2APOB, APOE
11flat retinoschisis10.2APOB, HMGCR
12casr-related disorders10.2APOB, APOE
13islet cell tumor10.1APOB, APOE
14retinal arteries, tortuosity of10.1APOE, HMGCR
15respiratory syncytial virus infectious disease10.1APOE, LPA
16intraorbital meningioma10.0CYP7A1, NR1H4, NR1I2
17perianal hematoma10.0CYP7A1, NR1H4, NR1I2
18female infertility of uterine origin10.0CYP7A1, NR1H4, NR1I2
19cataract10.0
20dermal unilateral segmental cavernous angioma9.9APOB, APOE, LPA
21atherosclerosis9.9
22dermatomyositis9.9APOE, CYP7A1, NR1H4
23pontocerebellar hypoplasia9.9APOB, APOE
24chondrocalcinosis with early-onset osteoarthritis9.9APOB, APOE, LPA
25prostate cancer, progression and metastasis of9.9CYP7A1, NR1H4, NR1I2
26glossopharyngeal nerve neoplasm9.9APOB, APOE, LPA
27obesity, hyperphagia, and developmental delay9.8APOB, APOE, LPA
28tendinitis9.8
29hepatitis9.8
30ataxia9.8
31littre gland carcinoma9.8APOB, APOE, LPA
32osteoporosis9.8
33multiple myeloma9.8
34mycosis fungoides9.8
35lymphoma9.8
36diarrhea9.8
37fox-fordyce disease9.8
38cerebritis9.8
39neuropathy9.8
40peripheral degeneration of cornea9.8APOB, APOE, LDLRAP1
41stroke, ischemic9.7APOB, APOE, LPA
42hyperlipidemia, familial combined9.7APOB, LDLR
43wolfram syndrome 29.7APOB, APOE
44artery disease9.7
45dementia9.7
46epilepsy9.7
47dystonia9.7
48lipid storage disease9.7
49xanthoma disseminatum9.7
50hypercholesterolemia, familial, autosomal recessive9.7LDLR, LDLRAP1

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Symptoms & Phenotypes for Xanthomatosis

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Human phenotypes related to Xanthomatosis:

 64
id Description HPO Frequency HPO Source Accession
1 xanthomatosis64 HP:0000991
2 hypercholesterolemia64 HP:0003124

UMLS symptoms related to Xanthomatosis:


dry skin, warm skin, burning sensation of skin, pain of skin, macule, peau d'orange surface of breast, macerated skin (finding), yellow complexion, skin discomfort, painful scar, application site papules, eyelid margin crusting, eyelid pain, injection site dryness, eyelid skin dryness, pathergy reaction

GenomeRNAi Phenotypes related to Xanthomatosis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-110.2APOE, LDLR
2GR00340-A-28.4APOB, APOE, HMGCR, LDLR, LDLRAP1, LPA

MGI Mouse Phenotypes related to Xanthomatosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9APOE, CYP7A1, LDLR, NR1H4, VCL
2MP:00053767.6APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR
3MP:00053707.1APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR

Drugs & Therapeutics for Xanthomatosis

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProbucolapprovedPhase 42123288-49-54912
Synonyms:
2,6-ditert-butyl-4-[2-(3,5-ditert-butyl-4-hydroxyphenyl)sulfanylpropan-2-ylsulfanyl]phenol
23288-49-5
4,4'- (Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'- (Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis[2, 6-di-tert-butylphenol]
4,4'-(Isopropylidenedithio)bis[2,6-di-tert-butylphenol]
4,4'-(propane-2,2-diyldisulfanediyl)bis(2,6-di-tert-butylphenol)
4,4'-[(1-Methylethylidene)bis(thio)]bis-[2,6-bis(1,1-dimethylethyl)phenol]
AB00052202
AC1L1J88
AKOS001740866
Acetone bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis (3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Almirall Brand of Probucol
Aventis Brand of Probucol
BPBio1_000625
BRN 2026253
BSPBio_000567
BSPBio_003176
Biphenabid
Bisbid
Bisphenabid
C07373
C31H48O2S2
CAS-23288-49-5
CCRIS 7510
CHEBI:122641
CHEMBL608
CID4912
D00476
D011341
DB01599
DE-3872
DH 581
DH-581
DH581
DivK1c_000599
EINECS 245-560-9
HMS1569M09
HMS1921D21
HMS2092D05
HMS501N21
Hoechst Brand of Probucol
IDI1_000599
KBio1_000599
KBio2_001776
KBio2_002394
KBio2_004344
KBio2_004962
KBio2_006912
KBio2_007530
 
KBio3_002396
KBio3_002873
KBioGR_000708
KBioGR_002394
KBioSS_001776
KBioSS_002399
LORELCO (TN)
LS-13188
Lesterol
Lorelco
Lursell
Lurselle
MLS000028492
MolPort-002-042-265
NCGC00016777-01
NCGC00094895-01
NCGC00094895-02
NCGC00094895-03
NCGC00094895-04
NINDS_000599
NSC 652160
NSC 86225
NSC652160
NSC86225
P9672_FLUKA
P9672_SIGMA
Panavir
Prestwick0_000384
Prestwick1_000384
Prestwick2_000384
Prestwick3_000384
Prestwick_408
Probucol (JAN/USP/INN)
Probucol [USAN:BAN:INN:JAN]
Probucolum
Probucolum [INN-Latin]
Probucolum [inn-latin]
SMR000058265
SPBio_001420
SPBio_002488
SPECTRUM1501109
ST075698
STK762566
Serterol
Sinlestal
Spectrum2_001400
Spectrum3_001438
Spectrum4_000414
Spectrum5_001343
Spectrum_001296
Superlipid
UNII-P3CTH044XJ
ZERO/001429
ZINC01530755
cMAP_000039
probucol
2Lipid Regulating AgentsPhase 4, Phase 3, Phase 22702
3Hypolipidemic AgentsPhase 4, Phase 3, Phase 22721
4Anticholesteremic AgentsPhase 4, Phase 3, Phase 21983
5AntimetabolitesPhase 4, Phase 3, Phase 211774
6Protective AgentsPhase 47190
7AntioxidantsPhase 42928
8
EzetimibeapprovedPhase 3, Phase 2272163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
9Gamma-sitosterolPhase 3, Phase 25
10
chenodeoxycholic acidapprovedPhase 232474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
11
Lovastatinapproved, investigationalPhase 26275330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6╬▒-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
 
Liposcler
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
12LaxativesPhase 2520
13L 647318Phase 262
14CatharticsPhase 2520
15Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
16DihydromevinolinPhase 262
17Gastrointestinal AgentsPhase 28109
18PhytosterolNutraceuticalPhase 2115
19Calcium, Dietary5525
20Soy BeanNutraceutical535

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing SurveillanceCompletedNCT02730390Phase 4
2Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
3Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisUnknown statusNCT00004346Phase 2
4SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
5Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisUnknown statusNCT01613898
6Arterial Wall Calcium Load in Pseudoxanthoma ElasticumUnknown statusNCT01731080
7Soy Food Intervention TrialUnknown statusNCT00924339
8Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial HypercholesterolemiaCompletedNCT02462655
9Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
10Causes and Natural History of DyslipidemiasRecruitingNCT00353782
11Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
12International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582
13Lp(a) and Aortic Valve CalcificationNot yet recruitingNCT02976818
14Cholestanol in HumansWithdrawnNCT00018694

Search NIH Clinical Center for Xanthomatosis


Cochrane evidence based reviews: xanthomatosis

Genetic Tests for Xanthomatosis

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Genetic tests related to Xanthomatosis:

id Genetic test Affiliating Genes
1 Xanthomatosis27

Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

36
Skin, Brain, Bone, Testes, Liver, Spinal cord, T cells

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 570)
idTitleAuthorsYear
1
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. (26905903)
2016
2
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. (26906304)
2016
3
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. (27858369)
2016
4
Blastic Plasmacytoid Dendritic Cell Neoplasm Associated with Dystrophic Xanthomatosis after Chemotherapy. (27535402)
2016
5
Pathophysiology of cerebrotendinous xanthomatosis. (27840382)
2016
6
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. (27331003)
2016
7
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. (26874936)
2016
8
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. (27879219)
2016
9
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. (27084087)
2016
10
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. (27625283)
2016
11
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. (27182150)
2016
12
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. (27771677)
2016
13
Cerebrotendinous xanthomatosis. (27559524)
2016
14
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. (27680221)
2016
15
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. (27225395)
2016
16
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. (27888347)
2016
17
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. (27094915)
2016
18
Clinical Images: Dual-energy computed tomography-based molecular imaging of cholesterol deposits in Achilles tendon xanthomatosis. (26946224)
2016
19
Late-onset spinal form xanthomatosis without brain lesion: a case report. (26861945)
2016
20
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. (26153518)
2015
21
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. (26937392)
2015
22
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. (25862734)
2015
23
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. (26844446)
2015
24
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. (25983621)
2015
25
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. (25941960)
2015
26
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. (26643207)
2015
27
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. (26156051)
2015
28
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. (26239048)
2015
29
Yellow Changes of the Skin: A Quiz. Diffuse plane normolipemic xanthomatosis associated with multiple myeloma. (25669308)
2015
30
Small Bowel Obstruction due to Intestinal Xanthomatosis. (26167322)
2015
31
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. (26519892)
2015
32
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. (25567502)
2015
33
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
34
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. (24186955)
2014
35
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. (25447658)
2014
36
Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests. (24553972)
2014
37
A case of diffuse plane normolipemic xanthomatosis presenting with oral lesions. (24819652)
2014
38
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. (24584636)
2014
39
Subcutaneous xanthomatosis in a great white pelican (Pelecanus onocrotalus). (24712175)
2014
40
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report. (24529221)
2014
41
Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia. (25084753)
2014
42
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. (25424010)
2014
43
Screening for cerebrotendinous xanthomatosis. (25234588)
2014
44
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. (24769274)
2014
45
Xanthomatosis coli. (22813443)
2013
46
Cerebrotendinous xanthomatosis. (23682184)
2013
47
Blepharospasm as a new feature of cerebrotendinous xanthomatosis. (23623195)
2013
48
Cerebrotendinous xanthomatosis presenting with bilateral achilles tendon xanthomata: a case report. (23536508)
2013
49
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. (22878431)
2013
50
Cerebrotendinous xanthomatosis. (23759795)
2013

Variations for Xanthomatosis

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Expression for genes affiliated with Xanthomatosis

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Search GEO for disease gene expression data for Xanthomatosis.

Pathways for genes affiliated with Xanthomatosis

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Pathways related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7HMGCR, LDLR
29.6HMGCR, NR1I2
39.5APOE, LDLR
49.3APOB, LPA
5
Show member pathways
9.3CYP27A1, CYP7A1, NR1H4
6
Show member pathways
9.2APOB, APOE, LDLR
79.2CYP7A1, NR1H4, NR1I2
89.2CYP7A1, NR1H4, NR1I2
98.8CYP7A1, HMGCR, LDLR, NR1H4
10
Show member pathways
8.4APOB, APOE, CYP7A1, HMGCR, LDLR
11
Show member pathways
8.1APOB, APOE, LDLR, LDLRAP1, LPA
12
Show member pathways
6.4APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR

GO Terms for genes affiliated with Xanthomatosis

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Cellular components related to Xanthomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:003066910.4APOB, LDLR
2chylomicronGO:004262710.1APOB, APOE
3endocytic vesicle lumenGO:00716829.9APOB, APOE
4intermediate-density lipoprotein particleGO:00343639.9APOB, APOE
5low-density lipoprotein particleGO:00343629.5APOB, APOE, LDLR
6very-low-density lipoprotein particleGO:00343619.5APOB, APOE
7early endosomeGO:00057699.4APOB, APOE, LDLR, LDLRAP1

Biological processes related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1bile acid biosynthetic processGO:000669910.5CYP27A1, CYP7A1
2cholesterol transportGO:003030110.5APOB, LDLR
3low-density lipoprotein particle clearanceGO:003438310.4APOB, LDLR
4cellular response to fatty acidGO:007139810.3LDLR, NR1H4
5intracellular receptor signaling pathwayGO:003052210.2NR1H4, NR1I2
6artery morphogenesisGO:004884410.2APOB, APOE
7cholesterol effluxGO:003334410.2APOB, APOE
8sterol metabolic processGO:001612510.2CYP27A1, CYP7A1
9cholesterol catabolic processGO:000670710.2APOE, CYP7A1
10lipoprotein biosynthetic processGO:004215810.1APOB, APOE
11low-density lipoprotein particle remodelingGO:003437410.1APOB, APOE
12regulation of cholesterol homeostasisGO:200018810.1LDLR, NR1H4
13regulation of bile acid biosynthetic processGO:007085710.0CYP7A1, NR1H4
14fatty acid homeostasisGO:005508910.0APOE, NR1H4
15negative regulation of MAP kinase activityGO:004340710.0APOE, HMGCR
16lipoprotein catabolic processGO:00421599.8APOB, APOE, LDLR
17cholesterol metabolic processGO:00082039.6APOB, APOE, LDLR, LDLRAP1
18triglyceride catabolic processGO:00194339.5APOB, APOE
19receptor-mediated endocytosisGO:00068989.4APOB, APOE, LDLR, LDLRAP1
20cholesterol homeostasisGO:00426329.2APOB, APOE, CYP7A1, LDLR, LDLRAP1
21lipid metabolic processGO:00066299.0APOB, APOE, LDLR, LPA
22lipoprotein metabolic processGO:00421579.0APOB, APOE, LDLR, LPA

Molecular functions related to Xanthomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:000154010.2APOE, LDLRAP1
2cholesterol transporter activityGO:001712710.1APOB, APOE
3low-density lipoprotein particle receptor bindingGO:00507509.6APOB, APOE, LDLRAP1
4RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.5NR1H4, NR1I2
5heparin bindingGO:00082019.2APOB, APOE, LPA

Sources for Xanthomatosis

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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