MCID: XNT003
MIFTS: 55

Xanthomatosis malady

Summaries for Xanthomatosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.

MalaCards: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia. An important gene associated with Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Selected targets of CREB1 and Etoposide Pathway, Pharmacokinetics/Pharmacodynamics. The compounds estrogen and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are other and integument.

Wikipedia:63 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ξανθος,... more...

Aliases & Classifications for Xanthomatosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

xanthomatosis 8 10 44 60
xanthelasmatosis 8


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Disease Ontology8 DOID:3345
SNOMED-CT56 63103006
MeSH34 D014973

Related Diseases for Xanthomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Xanthomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 170)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis31.7CYP27A1, FDX1
2sitosterolemia30.8CYP7A1, HMGCR
3atherosclerosis30.4NR1H2, NR1I2, LPL, APOB, APOA1, NR1H4
4familial hypercholesterolemia30.3APOB, HMGCR, LDLR
5hepatitis30.3CYP3A4, LDLR
6osteoporosis30.2CALCA, NR1H2, CYP27B1, CYP3A4, HMGCR, SP1
7dementia30.0SP1, CYP27A1, LPL
8primary biliary cirrhosis29.9NR1I2, NR1H2, NR1H4, CYP3A4
9arthritis29.9CALCA, NR1H2, HMGCR, SP1
10cholestasis29.9CYP7A1, CYP27A1, CYP3A4, NR1H4, NR1H2, NR1I2
11hyperlipidemia type 329.9APOA1, APOB, LPL, HMGCR, LDLR
12coronary artery disease29.9APOA1, APOB, LPL, ABCA1, HMGCR, LDLRAP1
13smith-lemli-opitz syndrome29.7HMGCR
14acute myocardial infarction29.7APOA1, APOB, HMGCR
15rickets29.7NR1I2, CYP27B1
16hypertension29.7CALCA, APOA1, APOB, LPL
17rheumatoid arthritis29.7APOA1, LPL, NR1H2, CYP27B1, CYP3A4, HMGCR
18myocardial infarction29.7APOA1, APOB, ABCA1, HMGCR, SP1, LDLR
19diabetes mellitus29.7CALCA, APOA1, APOB, LPL, NR1H4, CYP27B1
20cataract10.3
21myeloma10.2
22tendinitis10.2
23fox fordyce disease10.1
24cerebritis10.1
25mycosis fungoides10.1
26wolman disease10.1
27diarrhea10.1
28neuropathy10.1
29lipid storage disease10.1
30multiple myeloma10.1
31peripheral neuropathy10.1
32polyneuropathy10.1
33primary familial xanthomatosis with involvement and calcification of the adrenal galnds10.1
34bone fracture10.0
35relapsing polychondritis10.0
36atopic dermatitis10.0
37cutaneous t cell lymphoma10.0
38dermatitis10.0
39lymphedema10.0
40cholelithiasis10.0CYP7A1
41thyroiditis10.0CALCA
42ischemic heart disease10.0LPL
43ischemia10.0HMGCR, CYP3A4
44lipoprotein lipase deficiency10.0LPL
45pancreatitis10.0LPL
46chylomicron retention disease10.0APOB
47thromboembolism10.0APOA1
48tuberculosis10.0SP1, CYP3A4
49complete lcat deficiency10.0APOA1
50polycystic ovary syndrome10.0NR1H2, APOA1

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Clinical Features for Xanthomatosis

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Drugs & Therapeutics for Xanthomatosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Xanthomatosis

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Anatomical Context for Xanthomatosis

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32MalaCards
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MalaCards organs/tissues related to Xanthomatosis:

32
Skin, Brain, Bone, Liver, Testes, T cells, Spinal cord, Small intestine, Heart, Colon, Smooth muscle, Monocytes, Eye, Lymph node, Adrenal gland

Animal Models for Xanthomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Xanthomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3LDLR, MSR1, ABCA1, NR1H2
2MP:00107718.2CALCA, LPL, FLNC, NR1H2, CYP27B1, CYP7A1
3MP:00053857.3CALCA, APOA1, APOB, LPL, FLNC, NR1H2
4MP:00053707.3LDLR, APOA1, APOB, LPL, NR1I2, NR1H2
5MP:00107687.1CALCA, APOB, LPL, FLNC, NR1I2, NR1H2
6MP:00053766.3NR1H4, NR1H2, NR1I2, LPL, APOB, APOA1

Publications for Xanthomatosis

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50PubMed
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Articles related to Xanthomatosis:

(show top 50)    (show all 527)
idTitleAuthorsYear
1
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
2
Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup. (22197981)
2012
3
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up. (22415344)
2012
4
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. (21955034)
2012
5
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case. (23287330)
2012
6
Cerebral xanthomatosis in three green water dragons (Physignathus cocincinus). (20722265)
2010
7
Cytomorphological diagnosis of tendinous xanthomatosis: a case report. (19894253)
2010
8
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. (20972203)
2010
9
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis. (20150306)
2010
10
Diffuse plane xanthomatosis in a patient with Budd-Chiari syndrome and monoclonal gammopathy. (20101341)
2009
11
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. (19696711)
2009
12
Diffuse normolipaemic plane xanthomatosis associated with adult T-cell lymphoma/leukaemia. (18637865)
2008
13
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy. (17319284)
2007
14
New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools. (16372260)
2006
15
Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. (16188578)
2005
16
Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study. (16320823)
2005
17
Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis. (15736111)
2005
18
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
19
Axillary perifollicular xanthomatosis resembling Fox-Fordyce disease. (15068468)
2004
20
Cerebrotendinous xanthomatosis with oromandibular dyskinesia. (14742951)
2003
21
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. (11181744)
2001
22
Normolipaemic plane xanthomatosis associated with mycosis fungoides. (10848755)
2000
23
Cerebrotendinous xanthomatosis: report of a case. (10730784)
2000
24
MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease). (10795535)
2000
25
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
26
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis. (10519880)
1999
27
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
28
Novel homozygous and compound heterozygous mutations of sterol 27- hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. (9186905)
1997
29
Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link? (9228390)
1997
30
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
31
Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding. (7772082)
1995
32
Cerebrotendinous xanthomatosis diagnosed after traumatic subdural haematoma. (8597991)
1995
33
Magnetic resonance imaging of cerebrotendinous xanthomatosis. (7695531)
1995
34
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). (7915755)
1994
35
Plane xanthomatosis with chronic lymphatic leukaemia. (8348721)
1993
36
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8446051)
1993
37
Xanthoma disseminatum: a rare normolipemic xanthomatosis. (8481626)
1993
38
Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin. (2317163)
1990
39
Type IIa hyperlipoproteinemia masquerading as cerebrotendinous xanthomatosis. (2614461)
1989
40
Reduced C27-steroid 26-hydroxylase activity in heterozygotes for cerebrotendinous xanthomatosis. (3206189)
1988
41
Osseous xanthomatosis and a pathologic fracture in a patient with hyperlipidemia. A case report. (3180583)
1988
42
Nutrition classics. Archives of Internal Medicine, Volume 64, October 1939: Angina pectoris in hereditary xanthomatosis. By Carl MA1ller. (3295605)
1987
43
Polyneuropathy with lipid deposits in Schwann cells and axonal degeneration in cerebrotendinous xanthomatosis. (2831311)
1987
44
Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. (6407679)
1983
45
Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. (7315872)
1981
46
Xanthomatosis and other clinical findings in patients with elevated levels of very low density lipoproteins. (223620)
1979
47
A major locus for hyper-beta-lipoproteinemia with xanthomatosis. (223784)
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
Evidence for the early reduction of the 24,25 double bond in the conversion of lanosterol to cholesterol in cerebrotendinous xanthomatosis. (865281)
1977
50
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (1212241)
1975

Genetic Variations for Xanthomatosis

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Expression for genes affiliated with Xanthomatosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xanthomatosis

Search GEO for disease gene expression data for Xanthomatosis.

Pathways for genes affiliated with Xanthomatosis

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12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 29KEGG
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Pathways related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ABCA1
210.1CYP3A4, NR1I2
310.0ABCA1, NR1H4
49.9LDLR, LDLRAP1
5
Vitamin D2 (ergocalciferol) metabolism
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9.9CYP27B1, CYP3A4, CYP27A1
69.9APOB, APOA1
79.9HMGCR, CYP3A4, NR1I2
89.9APOB, LDLR
9
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9.8NR1I2, NR1H2, NR1H4
10
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.8CYP3A4, CYP27B1, CALCA
119.7CYP7A1, CYP3A4, NR1H4, NR1I2
12
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9.7CYP8B1, CYP27A1, CYP7A1
139.7CYP7A1, CYP27A1, CYP8B1
14
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9.7APOA1, APOB, MSR1
159.7APOA1, APOB, MSR1
169.6LDLR, HMGCR, ABCA1
179.6ABCA1, APOB, APOA1
189.4LDLR, HMGCR, CYP7A1, CYP3A4, NR1H4
19
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9.3CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
20
Hide members
9.3CYP7A1, CYP27A1, CYP3A4, CYP8B1, CYP27B1
21
Hide members
9.3LDLR, LPL, APOB, APOA1
229.2APOA1, APOB, ABCA1, LDLR
239.2APOA1, LPL, CYP8B1, CYP27A1, CYP7A1
249.2APOA1, APOB, NR1I2, NR1H4, ABCA1
25
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9.0APOA1, CYP7A1, ABCA1, HMGCR, SP1
26
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9.0LPL, NR1H2, HMGCR, SP1, LDLR
27
Hide members
9.0APOA1, APOB, LPL, ABCA1, LDLR
288.8NR1I2, NR1H4, CYP27B1, CYP8B1, CYP3A4, CYP7A1
29
Hide members
8.6LDLR, APOA1, APOB, LPL, CYP7A1, ABCA1
30
Hide members
8.1APOA1, APOB, LPL, FDX1, CYP27B1, CYP8B1

Compounds for genes affiliated with Xanthomatosis

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 209)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6CYP7A1
2cycloheximide4410.0LDLR, FDX1
3bile acid449.9NR1H4, CYP7A1, HMGCR, NR1H2
47alpha-hydroxy-4-cholesten-3-one449.9HMGCR, NR1H2, CYP27A1, CYP7A1, NR1I2
524s-hydroxy-cholesterol449.9HMGCR, CYP27A1, CYP7A1, ABCA1
6alpha tocopherol449.6NR1I2, NR1H2, MSR1, LDLR, LPL
7ursodeoxycholic acid44 11 2411.5NR1H4, NR1H2, NR1I2, CYP7A1, HMGCR, LDLR
8cholestyramine449.5APOB, HMGCR, LDLR, CYP7A1
927-hydroxycholesterol44 2810.5NR1H2, CYP7A1, ABCA1, CYP27A1, HMGCR, LDLR
10rosuvastatin44 49 28 1112.4LDLR, HMGCR, CYP3A4, APOB, APOA1
11fenofibric acid44 2810.4HMGCR, APOB, LPL, APOA1
12phenobarbital44 28 1111.4CYP7A1, CYP3A4, NR1H2, NR1I2, LPL, APOA1
13gemfibrozil44 28 1111.4APOB, LDLR, LPL, CYP3A4, APOA1, HMGCR
14ciprofibrate44 2810.3APOA1, APOB, LPL, NR1H2, HMGCR, LDLR
15taurocholate449.3APOB, HMGCR, CYP7A1, NR1H4, NR1H2, APOA1
16fluvastatin44 49 28 1112.3LDLR, APOB, CYP3A4, LPL, APOA1, HMGCR
17probucol44 1110.2APOB, LPL, ABCA1, HMGCR, LDLR, APOA1
1825-hydroxyvitamin d449.2CYP27A1, CYP27B1, FDX1, APOA1, CALCA
19pioglitazone44 49 28 1112.2LPL, NR1H2, CYP3A4, ABCA1, APOA1, APOB
20niacin44 1110.2APOA1, APOB, LDLR, HMGCR, ABCA1, LPL
21vitamin a44 11 2411.2LPL, APOA1, CYP27B1, APOB, NR1I2, NR1H2
2222r-hydroxycholesterol44 2810.2ABCA1, FDX1, NR1H4, APOA1, NR1H2, LDLR
23tocopherol449.1HMGCR, NR1I2, LPL, APOB, APOA1, NR1H2
24lovastatin44 49 59 28 1113.1HMGCR, LDLR, CYP3A4, NR1I2, LPL, APOA1
25ezetimibe44 1110.1HMGCR, LDLR, ABCA1, CYP3A4, APOA1, APOB
26pravastatin44 49 28 11 2413.1APOA1, APOB, LDLR, CYP7A1, HMGCR, ABCA1
27prostacyclin448.9APOA1, LDLR, SP1, HMGCR, CYP27A1, NR1H2
281,25 dihydroxy vitamin d3448.9FDX1, CYP27B1, CALCA, CYP27A1, SP1, NR1H2
29bezafibrate44 28 1110.9LDLR, HMGCR, ABCA1, CYP7A1, CYP3A4, APOA1
30cholesterol ester448.8APOA1, APOB, LPL, CYP7A1, ABCA1, HMGCR
31atorvastatin44 49 28 11 2412.8HMGCR, LPL, APOB, APOA1, CYP3A4, CYP7A1
32fenofibrate44 49 1110.8APOA1, HMGCR, APOB, LDLR, ABCA1, CYP3A4
33thyroxine44 249.8LDLR, APOA1, APOB, LPL, NR1I2, NR1H2
34phosphatidylcholine448.7APOA1, CALCA, LDLR, ABCA1, CYP7A1, LPL
35calcitriol44 59 11 2411.7LPL, CALCA, NR1I2, NR1H2, CYP27B1, NR1H4
36troglitazone44 28 59 1111.7NR1H2, SP1, HMGCR, LPL, NR1I2, CYP3A4
37chloramphenicol44 2 1110.6CYP3A4, CYP27B1, SP1, LDLR, LPL, CYP7A1
38cyclosporin a44 28 5910.6NR1H2, HMGCR, LDLR, CYP27A1, ABCA1, CALCA
39vitamin d448.6CALCA, LPL, SP1, NR1I2, NR1H2, NR1H4
40chenodeoxycholic acid44 28 11 2411.5APOB, NR1I2, CYP3A4, CYP8B1, NR1H4, NR1H2
41tamoxifen44 49 28 1111.5NR1H2, LDLR, SP1, NR1I2, LPL, APOB
42simvastatin44 49 59 28 11 2413.4APOB, LPL, CYP3A4, APOA1, CYP27A1, ABCA1
43genistein44 28 59 2 11 2413.2CYP27B1, ABCA1, LDLR, NR1H2, LPL, APOB
44dexamethasone44 49 28 1111.2NR1H2, NR1I2, LPL, FDX1, CYP3A4, CYP27A1
45retinoic acid44 249.0CYP3A4, CYP7A1, LDLR, ABCA1, SP1, CYP27B1
46steroid448.0NR1H4, CYP3A4, CYP27A1, CYP7A1, SP1, FDX1
47lipid447.4APOB, NR1H2, LDLR, NR1I2, LPL, MSR1
48sterol447.3SP1, HMGCR, ABCA1, CYP7A1, CYP27A1, FDX1
49testosterone44 59 11 2410.1LDLR, SP1, MSR1, ABCA1, CYP3A4, CYP27B1
50cholesterol44 28 11 249.9NR1H2, CYP27A1, CYP8B1, CYP27B1, NR1H4, FDX1

GO Terms for genes affiliated with Xanthomatosis

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16Gene Ontology
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Cellular components related to Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.9APOB, APOA1
2low-density lipoprotein particleGO:0343629.7LDLR, MSR1, APOB
3very-low-density lipoprotein particleGO:0343619.7LPL, APOB, APOA1
4chylomicronGO:0426279.6LPL, APOB
5early endosomeGO:0057699.3APOA1, APOB, LDLRAP1, LDLR

Biological processes related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:07085710.5NR1H4, CYP7A1
2calcitriol biosynthetic process from calciolGO:03637810.4CYP3A4, CYP27B1
3cholesterol importGO:07050810.2APOA1, LDLR
4vitamin D metabolic processGO:04235910.2CYP3A4, CYP27B1
5lipoprotein biosynthetic processGO:04215810.2APOA1, APOB
6regulation of Cdc42 protein signal transductionGO:03248910.2APOA1, ABCA1
7lipoprotein catabolic processGO:04215910.2APOB, LDLR
8positive regulation of lipid storageGO:01088410.2NR1H2, APOB
9high-density lipoprotein particle assemblyGO:03438010.2APOA1, ABCA1
10steroid metabolic processGO:00820210.2NR1I2, CYP27B1, CYP3A4
11negative regulation of cholesterol storageGO:01088710.1ABCA1, NR1H2
12exogenous drug catabolic processGO:04273810.1CYP3A4, NR1I2
13sterol metabolic processGO:01612510.1CYP8B1, CYP27A1, CYP7A1
14positive regulation of triglyceride biosynthetic processGO:01086710.1NR1H2, LDLR
15positive regulation of cholesterol storageGO:01088610.1APOB, LPL, MSR1
16low-density lipoprotein particle clearanceGO:03438310.1LDLR, APOB
17bile acid biosynthetic processGO:00669910.1CYP8B1, CYP27A1, CYP7A1
18phospholipid homeostasisGO:05509110.1APOA1, ABCA1
19positive regulation of macrophage derived foam cell differentiationGO:01074410.1APOB, LPL, MSR1
20phospholipid effluxGO:03370010.0ABCA1, APOA1
21lipoprotein transportGO:0429539.9MSR1, APOB
22bile acid metabolic processGO:0082069.9CYP7A1, CYP27A1, CYP8B1, NR1H4
23cholesterol effluxGO:0333449.9APOA1, APOB, ABCA1
24positive regulation of cholesterol effluxGO:0108759.9NR1H2, ABCA1
25endothelial cell proliferationGO:0019359.8APOA1, CALCA
26receptor-mediated endocytosisGO:0068989.8LDLR, LDLRAP1, MSR1, APOB
27cholesterol transportGO:0303019.8LDLR, MSR1, APOB, APOA1
28retinoid metabolic processGO:0015239.7APOA1, APOB, LPL, LDLR
29phototransduction, visible lightGO:0076039.7APOA1, APOB, LPL, LDLR
30transcription initiation from RNA polymerase II promoterGO:0063679.7SP1, NR1H4, NR1H2, NR1I2
31negative regulation of macrophage derived foam cell differentiationGO:0107459.6ABCA1, NR1H2
32xenobiotic metabolic processGO:0068059.5NR1I2, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
33lipoprotein metabolic processGO:0421579.4APOA1, APOB, LPL, ABCA1, LDLR
34cellular lipid metabolic processGO:0442559.2APOA1, NR1H2, CYP7A1, ABCA1, HMGCR, SP1
35cholesterol homeostasisGO:0426329.0LDLR, APOA1, APOB, NR1H2, CYP7A1, ABCA1
36cholesterol metabolic processGO:0082038.9APOA1, APOB, FDX1, CYP27A1, ABCA1, LDLRAP1
37small molecule metabolic processGO:0442817.3APOA1, APOB, LPL, FDX1, CYP27B1, CYP8B1

Molecular functions related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1vitamin D3 25-hydroxylase activityGO:03034310.3CYP27A1, CYP3A4
2steroid hydroxylase activityGO:00839510.2CYP27A1, CYP3A4
3ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00487910.0NR1H4, NR1H2, NR1I2
4steroid hormone receptor activityGO:00370710.0NR1I2, NR1H2, NR1H4
5phospholipid transporter activityGO:00554810.0ABCA1, APOA1
6retinoid X receptor bindingGO:04696510.0NR1H2, NR1H4
7low-density lipoprotein particle receptor bindingGO:05075010.0APOB, LDLRAP1
8apolipoprotein bindingGO:0341859.9ABCA1, LPL
9cholesterol transporter activityGO:0171279.8ABCA1, APOB, APOA1
10low-density lipoprotein particle bindingGO:0301699.6LDLR, MSR1
11heme bindingGO:0200379.6CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
12iron ion bindingGO:0055069.3CYP7A1, CYP27A1, CYP3A4, CYP8B1, CYP27B1, FDX1
13electron carrier activityGO:0090559.2FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
14protein bindingGO:0055157.0NR1I2, FLNC, LPL, APOB, APOA1, CALCA

Products for genes affiliated with Xanthomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xanthomatosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet