Aliases & Classifications for Xanthomatosis

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Aliases & Descriptions for Xanthomatosis:

Name: Xanthomatosis 11 13 25 48 37 66
 
Xanthelasmatosis 11

Classifications:



External Ids:

Disease Ontology11 DOID:3345
SNOMED-CT60 63103006
MeSH37 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 sitosterolemia and polyneuropathy, and has symptoms including dry skin, warm skin and burning sensation of skin. An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are Metformin Pathway, Pharmacodynamics and Vitamin D synthesis. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1sitosterolemia31.9APOB, CYP27A1, CYP7A1, HMGCR
2polyneuropathy30.2APOB, LPA
3cerebrotendinous xanthomatosis29.9CYP27A1, CYP27B1, CYP7A1, HMGCR, NR1H3, NR1H4
4coronary artery disease29.6APOB, HMGCR, LPA
5angina pectoris29.3APOB, LPA
6wolman disease11.5
7familial lipoprotein lipase deficiency10.9
8degos 'en cocarde' erythrokeratoderma10.5APOB, HMGCR
9flat retinoschisis10.4APOB, HMGCR
10dermal unilateral segmental cavernous angioma10.4APOB, LPA
11stickler syndrome, type i10.3CYP27A1, CYP27B1
12surf1-related charcot-marie-tooth disease type 410.3APOB, HMGCR
13alzheimer disease 19, late onset10.3APOB, LPA
14bladder diverticulum10.3APOB, LPA
15dermatomyositis10.3CYP7A1, NR1H4
16inflamed seborrheic keratosis10.3APOB, LPA
17chondrocalcinosis with early-onset osteoarthritis10.2APOB, LPA
18keratoacanthoma10.2APOB, LPA
19von willebrand disease, platelet-type10.1APOB, LPA
20hyperlipidemia type 310.1
21glossopharyngeal nerve neoplasm10.1APOB, LPA
22cataract10.1
23rubinstein taybi like syndrome10.1APOB, HMGCR, LPA
24atherosclerosis10.1
25iron metabolism disease10.0APOB, HMGCR, LPA
26myeloma10.0
27apolipoprotein c-iii deficiency10.0APOB, LPA
28chronic myelomonocytic leukemia10.0CYP27B1, HMGCR
29tendinitis10.0
30hepatitis10.0
31ataxia10.0
32osteoporosis9.9
33multiple myeloma9.9
34mycosis fungoides9.9
35lymphoma9.9
36diarrhea9.9
37fox-fordyce disease9.9
38cerebritis9.9
39neuropathy9.9
40artery disease9.8
41dementia9.8
42epilepsy9.8
43dystonia9.8
44lipid storage disease9.8
45xanthoma disseminatum9.8
46intraorbital meningioma9.8CYP7A1, NR1H4, NR1I2
47perianal hematoma9.8CYP7A1, NR1H4, NR1I2
48female infertility of uterine origin9.8CYP7A1, NR1H4, NR1I2
49prostate cancer, progression and metastasis of9.8CYP7A1, NR1H4, NR1I2
50autoimmune hepatitis9.8APOB, CYP27A1, HMGCR, LPA

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Symptoms for Xanthomatosis

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HPO human phenotypes related to Xanthomatosis:

id Description Frequency HPO Source Accession
1 xanthomatosis HP:0000991
2 hypercholesterolemia 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

Drugs & Therapeutics for Xanthomatosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProbucolPhase 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
2
EzetimibePhase 3, Phase 2268163222-33-1150311
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
3
LovastatinPhase 26075330-75-553232
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
4
chenodeoxycholic acidPhase 228474-25-910133
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

Interventional clinical trials:

(show all 13)
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
3SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
4Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisRecruitingNCT00004346Phase 2
5Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial HypercholesterolemiaCompletedNCT02462655
6Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
7Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisRecruitingNCT01613898
8International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582
9Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
10Arterial Wall Calcium Load in Pseudoxanthoma ElasticumRecruitingNCT01731080
11Causes and Natural History of DyslipidemiasRecruitingNCT00353782
12Soy Food Intervention TrialNot yet recruitingNCT00924339
13Cholestanol 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 Xanthomatosis25

Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

34
Skin, Brain, Bone, Testes, Breast, Liver, Spinal cord

Animal Models for Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Xanthomatosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.7APOB, CYP27A1, CYP7A1, HMGCR, NR1H3, NR1H4
2MP:00053766.9APOB, CYP27A1, CYP27B1, CYP7A1, HMGCR, NR1H3

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. (26905903)
2016
2
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. (26153518)
2015
3
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
4
Xanthomatosis coli. (22813443)
2013
5
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
6
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
7
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
8
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. (23124517)
2012
9
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
10
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. (19117873)
2009
11
Best cases from the AFIP: atypical imaging features of bilateral Achilles tendon xanthomatosis. (19001659)
2008
12
Teaching neuroimage: cerebrotendinous xanthomatosis. (18606959)
2008
13
In vitro characterization of a monoclonal IgG(kappa) from a patient with planar xanthomatosis. (18363875)
2008
14
Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. (16697747)
2006
15
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
16
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
17
Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. (12077546)
2002
18
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. (12141707)
2002
19
Cerebrotendinous xanthomatosis in three siblings from a Chinese family. (11361235)
2001
20
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
21
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
22
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. (10406988)
1999
23
Papuloeruptive xanthomatosis associated with chronic cholestasis. (10717696)
1999
24
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
25
A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. (9412789)
1997
26
Severe xanthomatosis associated with familial apolipoprotein E deficiency. (9038735)
1996
27
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). (8614539)
1996
28
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
29
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
30
Normolipemic xanthomatosis. (7479470)
1995
31
Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding. (7772082)
1995
32
Cerebrotendinous Xanthomatosis (20301583)
1993
33
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
34
Immunohistochemical analysis of spinal intradural xanthomatosis developed in a patient with phytosterolemia. (1377859)
1992
35
Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study. (1469424)
1992
36
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
37
Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function. (2325562)
1990
38
Cerebrotendinous xanthomatosis. (2329221)
1990
39
A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. (2394840)
1990
40
Cerebrotendinous xanthomatosis. (2493565)
1989
41
Subcutaneous xanthogranulomatosis: an inflammatory non-X histiocytic syndrome (subcutaneous xanthomatosis). (2808828)
1989
42
Central motor and sensory conduction in adrenoleukomyeloneuropathy, cerebrotendinous xanthomatosis, HTLV-1-associated myelopathy and tabes dorsalis. (2851031)
1988
43
Nutrition classics. Archives of Internal Medicine, Volume 64, October 1939: Angina pectoris in hereditary xanthomatosis. By Carl MA1ller. (3295605)
1987
44
Normocholesterolemic xanthomatosis. (3096220)
1986
45
Bile acid profiles in bile, urine, and feces of a patient with cerebrotendinous xanthomatosis. (3660436)
1986
46
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
47
Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. (6407679)
1983
48
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
49
Ultrastructural aspects of normolipidemic xanthomatosis. (118710)
1979
50
Aortic stenosis due to familial hypercholesterolemic xanthomatosis. A case report with brief review of literature. (700754)
1978

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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.7HMGCR, NR1I2
29.7CYP27A1, CYP27B1
39.6APOB, LPA
4
Show member pathways
9.4APOB, CYP7A1, HMGCR
5
Show member pathways
9.4CYP27A1, CYP7A1, NR1H4
69.3CYP7A1, NR1H4, NR1I2
79.3CYP7A1, HMGCR, NR1H4
89.2HMGCR, NR1H3
9
Show member pathways
9.0CYP27A1, CYP7A1, NR1H3
10
Show member pathways
8.9CYP27A1, CYP27B1, CYP7A1, NR1H4
11
Show member pathways
8.9CYP27A1, CYP27B1, CYP7A1, NR1H4
12
Show member pathways
8.8NR1H3, NR1H4, NR1I2
138.0CYP27B1, CYP7A1, NR1H3, NR1H4, NR1I2
14
Show member pathways
7.6APOB, CYP27A1, CYP27B1, CYP7A1, HMGCR, LPA

GO Terms for genes affiliated with Xanthomatosis

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:007085710.2CYP7A1, NR1H4
2lipoprotein metabolic processGO:004215710.2APOB, LPA
3sterol metabolic processGO:001612510.2CYP27A1, CYP7A1
4bile acid biosynthetic processGO:000669910.2CYP27A1, CYP7A1
5regulation of cholesterol homeostasisGO:20001889.9NR1H3, NR1H4
6triglyceride homeostasisGO:00703289.8NR1H3, NR1H4
7cholesterol homeostasisGO:00426329.4APOB, CYP7A1, NR1H3
8steroid hormone mediated signaling pathwayGO:00434019.4NR1H3, NR1H4, NR1I2
9transcription initiation from RNA polymerase II promoterGO:00063679.4NR1H3, NR1H4, NR1I2
10intracellular receptor signaling pathwayGO:00305229.3NR1H3, NR1H4, NR1I2
11response to lipopolysaccharideGO:00324969.2APOB, CYP27B1, NR1H4
12oxidation-reduction processGO:00551148.9CYP27A1, CYP27B1, CYP7A1, HMGCR

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.4NR1H3, NR1H4, NR1I2
2steroid hormone receptor activityGO:00037079.4NR1H3, NR1H4, NR1I2
3iron ion bindingGO:00055069.3CYP27A1, CYP27B1, CYP7A1
4transcription coactivator activityGO:00037139.2NR1H3, NR1H4, NR1I2
5heme bindingGO:00200379.0CYP27A1, CYP27B1, CYP7A1

Sources for Xanthomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet