Aliases & Classifications for Xanthomatosis

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 59SNOMED-CT
See all sources

Aliases & Descriptions for Xanthomatosis:

Name: Xanthomatosis 10 47 12 65 36
 
Xanthelasmatosis 10


Classifications:



External Ids:

Disease Ontology10 DOID:3345
SNOMED-CT59 63103006
MeSH36 D014973

Summaries for Xanthomatosis

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Disease Ontology:10 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 xanthomatosisand hypercholesterolemia. An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450, Family 27, Subfamily A, Polypeptide 1), and among its related pathways are A-beta Uptake and Degradation and SREBF and miR33 in cholesterol and lipid homeostasis. Affiliated tissues include brain, bone and testes, 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 149)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis31.5CYP27A1, CYP7A1, HMGCR, NR1H4, NR1I2
2sitosterolemia30.9APOB, CYP27A1, CYP7A1, HMGCR
3smith-lemli-opitz syndrome29.9APOE, HMGCR
4hypercholesterolemia, familial, autosomal recessive29.7LDLR, LDLRAP1
5artery disease29.5APOB, APOE, HMGCR, LDLR, LPA
6coronary artery disease29.4APOB, APOE, HMGCR, LDLR, LPA
7lipid storage disease29.3APOB, APOE, HMGCR, LDLR, LPA, NR1H4
8myocardial infarction29.1APOB, APOE, HMGCR, LDLR, LPA
9cataract10.4
10atherosclerosis10.4
11myeloma10.3
12wolman disease10.3
13tendinitis10.3
14hepatitis10.3
15ataxia10.3
16osteoporosis10.2
17multiple myeloma10.2
18mycosis fungoides10.2
19fox fordyce disease10.2
20cerebritis10.2
21diarrhea10.2
22neuropathy10.2
23dystonia10.2
24lipid metabolism disorder10.2
25peripheral neuropathy10.2
26polyneuropathy10.2
27hyperlipidemia type 310.2
28xanthoma disseminatum10.2
29large cell medulloblastoma10.2APOB, NR1H4
30progressive nodular histiocytosis10.1APOB, APOE
31hypopharynx cancer10.1APOB, LPA
32ischemic optic neuropathy10.1APOB, APOE
33arthritis10.1
34bone fracture10.1
35lymphedema10.1
36primary biliary cirrhosis10.1
37relapsing polychondritis10.1
38metabolic syndrome x10.1
39atopic dermatitis10.1
40oromandibular dystonia10.1
41cholestasis10.1
42cutaneous t cell lymphoma10.1
43dementia10.1
44dermatitis10.1
45spasticity10.1
46retinal arteries, tortuosity of10.1APOE, HMGCR
47nephronophthisis10.1APOE, LPA
48gallbladder sarcoma10.0APOB, APOE
49necrobiosis lipoidica10.0APOB, LDLRAP1
50cranial nerve disease10.0APOB, APOE

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

Drugs & Therapeutics for Xanthomatosis

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EzetimibeapprovedPhase 3, Phase 2252163222-33-1150311
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
2Gamma-sitosterolPhase 3, Phase 24
3
Lovastatinapproved, investigationalPhase 25675330-75-553232
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
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 acidapprovedPhase 223474-25-910133
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
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
5LaxativesPhase 2278
6CatharticsPhase 2278
7Calcium, Dietary3529
8Soy BeanNutraceutical427

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
2SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
3Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisRecruitingNCT00004346Phase 2
4Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
5Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisRecruitingNCT01613898
6International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582
7Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
8Arterial Wall Calcium Load in Pseudoxanthoma ElasticumRecruitingNCT01731080
9Causes and Natural History of DyslipidemiasRecruitingNCT00353782
10Biomarker for Farber DiseaseRecruitingNCT02298634
11Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial HypercholesterolemiaNot yet recruitingNCT02462655
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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Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

33
Brain, Bone, Testes, Liver, Skin, T cells, Small intestine

Animal Models for Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Xanthomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.5APOB, APOE, CYP27A1, CYP7A1, LDLR, NR1H4
2MP:00053767.2APOB, APOE, CYP27A1, CYP7A1, LDLR, LDLRAP1

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 544)
idTitleAuthorsYear
1
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
2
A case of diffuse plane normolipemic xanthomatosis presenting with oral lesions. (24819652)
2014
3
Xanthomatosis coli. (22813443)
2013
4
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
5
Severe xanthomatosis with prominent tuberous xanthomas on the cheeks and the nasal dorsum in a patient with type IIa hyperlipoproteinemia. (24047578)
2013
6
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
7
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
8
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
9
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. (21531161)
2011
10
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
11
Diffuse xanthomatosis as a presenting feature of multiple myeloma. (20015339)
2010
12
Best cases from the AFIP: atypical imaging features of bilateral Achilles tendon xanthomatosis. (19001659)
2008
13
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
14
Cholesterol, corneal lipidosis, and xanthomatosis in amphibians. (12616838)
2003
15
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
16
Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. (12077546)
2002
17
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
18
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
19
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
20
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. (8728324)
1996
21
Severe xanthomatosis associated with familial apolipoprotein E deficiency. (9038735)
1996
22
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
23
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
24
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
25
Normolipemic xanthomatosis. (7479470)
1995
26
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
27
Determination of the glucurono-conjugated position in bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study. (8089079)
1994
28
Cerebrotendinous Xanthomatosis (20301583)
1993
29
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8231848)
1993
30
Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. (8445406)
1993
31
Plane xanthomatosis with chronic lymphatic leukaemia. (8348721)
1993
32
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
33
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
34
Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). (2303834)
1990
35
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
36
Cerebrotendinous xanthomatosis. (2493565)
1989
37
Changes in lipid and lipoprotein levels and Achilles tendon diameters and indices in familial hypercholesterolaemic patients with tendinous xanthomatosis treated by diet and bezafibrate for 2 years. (3219880)
1988
38
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
39
Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. (3557306)
1987
40
Normocholesterolemic xanthomatosis. (3096220)
1986
41
Peripheral neuropathy in cerebrotendinous xanthomatosis. (2994606)
1985
42
Tendinous xanthomatosis--a case report. (6413400)
1983
43
Polymorphic type of xanthomatosis in association with IgA myeloma. (6761377)
1982
44
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
45
Normolipidemic planar xanthomatosis associated with benign monoclonal gammopathy. (6455584)
1981
46
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
47
Peripheral neuropathy in cerebrotendinous xanthomatosis. (221858)
1979
48
Identifications of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23 beta-tetrol, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 alpha-tetrol, and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 beta-tetrol in cerebrotendinous xanthomatosis. (663972)
1978
49
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (1212241)
1975
50
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. (5134895)
1971

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 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6APOE, LDLR
29.5HMGCR, LDLR
3
Show member pathways
9.4HMGCR, NR1I2
4
Show member pathways
9.3CYP27A1, CYP7A1, NR1H4
59.2APOB, LPA
6
Show member pathways
9.2APOB, APOE, LDLR
79.1CYP7A1, NR1H4, NR1I2
89.1CYP7A1, NR1H4, NR1I2
9
Show member pathways
8.8CYP27A1, CYP7A1, NR1H4, NR1I2
108.6CYP7A1, HMGCR, LDLR, NR1H4
11
Show member pathways
8.2APOB, APOE, CYP7A1, HMGCR, LDLR
12
Show member pathways
8.1APOB, APOE, LDLR, LDLRAP1, LPA
13
Show member pathways
6.2APOB, 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
1endocytic vesicle lumenGO:007168210.0APOB, APOE
2intermediate-density lipoprotein particleGO:00343639.9APOB, APOE
3chylomicronGO:00426279.9APOB, APOE
4very-low-density lipoprotein particleGO:00343619.8APOB, APOE
5clathrin-coated endocytic vesicle membraneGO:00306699.8APOB, LDLR
6low-density lipoprotein particleGO:00343629.6APOB, APOE, LDLR
7early endosomeGO:00057698.9APOB, APOE, LDLR, LDLRAP1

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle clearanceGO:003438310.3APOB, LDLR
2lipoprotein biosynthetic processGO:004215810.3APOB, APOE
3regulation of bile acid biosynthetic processGO:007085710.2CYP7A1, NR1H4
4bile acid biosynthetic processGO:000669910.2CYP27A1, CYP7A1
5low-density lipoprotein particle remodelingGO:003437410.1APOB, APOE
6cholesterol effluxGO:003334410.1APOB, APOE
7sterol metabolic processGO:001612510.1CYP27A1, CYP7A1
8artery morphogenesisGO:004884410.1APOB, APOE
9triglyceride catabolic processGO:001943310.1APOB, APOE
10cholesterol catabolic processGO:000670710.0APOE, CYP7A1
11lipoprotein catabolic processGO:00421599.9APOB, APOE, LDLR
12intracellular receptor signaling pathwayGO:00305229.8NR1H4, NR1I2
13cholesterol transportGO:00303019.7APOB, APOE, LDLR
14xenobiotic metabolic processGO:00068059.7CYP27A1, CYP7A1, NR1I2
15bile acid metabolic processGO:00082069.7CYP27A1, CYP7A1, NR1H4
16cholesterol biosynthetic processGO:00066959.6APOE, HMGCR
17retinoid metabolic processGO:00015239.5APOB, APOE, LDLR
18phototransduction, visible lightGO:00076039.5APOB, APOE, LDLR
19negative regulation of MAP kinase activityGO:00434079.4APOE, HMGCR
20lipid transportGO:00068699.3APOB, APOE, LPA
21cholesterol homeostasisGO:00426329.1APOB, APOE, CYP7A1, LDLR, LDLRAP1
22lipoprotein metabolic processGO:00421579.0APOB, APOE, LDLR, LPA
23cholesterol metabolic processGO:00082038.9APOB, APOE, CYP27A1, LDLR, LDLRAP1
24lipid metabolic processGO:00066298.8APOB, APOE, LDLR, LPA
25receptor-mediated endocytosisGO:00068988.1APOB, APOE, LDLR, LDLRAP1, LPA
26small molecule metabolic processGO:00442816.5APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.9APOB, APOE
2lipid transporter activityGO:00053199.9APOB, APOE
3steroid hormone receptor activityGO:00037079.9NR1H4, NR1I2
4RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.9NR1H4, NR1I2
5thyroid hormone receptor activityGO:00048879.8NR1H4, NR1I2
6beta-amyloid bindingGO:00015409.6APOE, LDLRAP1
7low-density lipoprotein particle receptor bindingGO:00507509.6APOB, APOE, LDLRAP1
8heparin bindingGO:00082018.4APOB, APOE, LPA

Sources for Xanthomatosis

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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