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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Search NIH Clinical Center for Xanthomatosis

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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, T cells, Testes, Small intestine, Heart, Spinal cord, Smooth muscle, Colon, Adrenal gland, Lymph node, Monocytes, Eye

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
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
2
Severe xanthomatosis with prominent tuberous xanthomas on the cheeks and the nasal dorsum in a patient with type IIa hyperlipoproteinemia. (24047578)
2013
3
Blepharospasm as a new feature of cerebrotendinous xanthomatosis. (23623195)
2013
4
An unusual case of hand xanthomatosis. (23862085)
2013
5
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
6
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. (21764626)
2012
7
A neurological rarity not to be missed: cerebrotendinous xanthomatosis. (21921005)
2011
8
Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings. (20108380)
2010
9
18F-FDG PET/CT imaging in tendon xanthomatosis. (18491088)
2008
10
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. (19125350)
2008
11
Cerebrotendinous xanthomatosis with cerebellar ataxia as the chief symptom. (17675781)
2007
12
Cerebrotendinous xanthomatosis: no involvement of the autonomic nervous system in a case with severe neuropathy. (17418358)
2007
13
Cerebrotendinous xanthomatosis: a rare cause of bilateral Achilles tendon swelling and ataxia. A case report. (16757769)
2006
14
Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues. (16331855)
2005
15
Systemic xanthomatosis associated with hyperchylomicronaemia in a cat. (16050907)
2005
16
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. (16157755)
2005
17
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. (15549503)
2004
18
Cerebrotendinous xanthomatosis in three siblings from a Chinese family. (11361235)
2001
19
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. (11574103)
2001
20
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. (11804206)
2001
21
Papuloeruptive xanthomatosis associated with chronic cholestasis. (10717696)
1999
22
Xanthomatosis associated with lymphedema praecox in a child with congenital pulmonary hypertension. (9092754)
1997
23
Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene. (8950197)
1996
24
'Normolipidemic' tendinous and tuberous xanthomatosis. (8864614)
1996
25
Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. (8730343)
1996
26
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
27
The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. (7484100)
1995
28
Normolipemic papular xanthomatosis in erythrodermic atopic dermatitis. (7829734)
1995
29
Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. (8182121)
1994
30
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
31
Immunohistochemical analysis of spinal intradural xanthomatosis developed in a patient with phytosterolemia. (1377859)
1992
32
Familial spinal xanthomatosis with sitosterolemia. (1477463)
1992
33
Computed tomography of tendinous xanthomata in cerebrotendinous xanthomatosis. (2020870)
1991
34
Atherogenic risk factors in cerebrotendinous xanthomatosis. (1934506)
1991
35
Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis. (1908036)
1991
36
Gingival and cutaneous xanthomatosis associated with primary biliary cirrhosis. Report of a case. (2263334)
1990
37
Immunoglobulin-bound lipoproteins (Ig-Lp) as markers of familial hypercholesterolemia, xanthomatosis and atherosclerosis. (3240331)
1988
38
Fatal nodular xanthomatosis in an infant. (3122190)
1987
39
Quantitative analysis of the mitochondrial cytochrome P-450-linked monooxygenase system: NADPH-hepatoredoxin reductase, hepatoredoxin, and cytochrome P-450s27 in livers of patients with cerebrotendinous xanthomatosis. (3791635)
1986
40
Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. (3989379)
1985
41
Familial hyperlipidaemia with multiple xanthomatosis and euthyroid sick syndrome. (6724629)
1984
42
Isolation of 5 alpha-cholestane-3 beta, 7 alpha-diol from bile of patients with cerebrotendinous xanthomatosis. Inefficiency of this steroid as a precursor to cholestanol. (6412759)
1983
43
Scintigraphic visualization of extraosseous xanthomatosis. (6215251)
1982
44
Liver in cerebrotendinous xanthomatosis (CTX)--a histochemical and EM study of four cases. (18788163)
1980
45
Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. (7410549)
1980
46
Peripheral neuropathy in cerebrotendinous xanthomatosis. (221858)
1979
47
Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study. (632682)
1978
48
Xanthomatosis secondary to diabetes mellitus in a dog. (659303)
1978
49
Cholestanol storage in the nervous system of two patients with cerebrotendinous xanthomatosis. (5711054)
1968
50
Cerebrotendinous xanthomatosis. Clinical and pathological studies. (5652996)
1968

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
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9.3CYP7A1, CYP27A1, CYP3A4, CYP8B1, CYP27B1
21
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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

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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