MCID: XNT003
MIFTS: 54

Xanthomatosis malady

Summaries for Xanthomatosis

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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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, liver and spinal cord, and related mouse phenotypes are other and integument.

Wikipedia:64 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ξανθος,... more...

Aliases & Classifications for Xanthomatosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

xanthomatosis 8 10 45 61
xanthelasmatosis 8


External Ids:

Disease Ontology8 DOID:3345
SNOMED-CT57 63103006
MeSH35 D014973

Related Diseases for Xanthomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Xanthomatosis family:

primary familial xanthomatosis with involvement and calcification of the adrenal galnds

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

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis31.7CYP27A1, FDX1
2sitosterolemia30.8CYP7A1, HMGCR
3atherosclerosis30.4ABCA1, CYP7A1, CYP27A1, NR1H4, HMGCR, MSR1
4familial hypercholesterolemia30.4LDLR, APOB, HMGCR
5hypercholesterolemia30.3ABCA1, CYP7A1, CYP27A1, CYP3A4, NR1H4, LPL
6osteoporosis30.2CALCA, NR1H2, CYP3A4, HMGCR, SP1, CYP27B1
7primary biliary cirrhosis30.0NR1H2, NR1I2, CYP3A4, NR1H4
8arthritis30.0SP1, NR1H2, CALCA, HMGCR
9hyperlipidemia type 330.0APOB, LPL, LDLR, HMGCR, APOA1
10coronary artery disease,30.0LDLRAP1, APOB, LPL, APOA1, HMGCR, LDLR
11smith-lemli-opitz syndrome29.8HMGCR
12hepatitis c29.8LDLR, HMGCR, LPL
13acute myocardial infarction29.8APOA1, APOB, HMGCR
14rickets29.8CYP27B1, NR1I2
15coronary heart disease29.8LDLR, HMGCR, ABCA1, LPL, APOB, APOA1
16mycosis fungoides10.2
17wolman disease10.2
18ataxia10.2
19lip disease10.2
20primary familial xanthomatosis with involvement and calcification of the adrenal galnds10.1
21papular xanthoma10.1
22xanthoma disseminatum10.1
23bone fracture10.0
24gout10.0
25relapsing polychondritis10.0
26atopic dermatitis10.0
27n syndrome10.0
28oromandibular dystonia10.0
29cholelithiasis10.0CYP7A1
30thyroiditis10.0CALCA
31ischemic heart disease10.0LPL
32ischemia10.0CYP3A4, HMGCR
33lipoprotein lipase deficiency10.0LPL
34pancreatitis10.0LPL
35chylomicron retention disease10.0APOB
36hepatitis10.0LDLR, CYP3A4
37thromboembolism10.0APOA1
38tuberculosis10.0CYP3A4, SP1
39complete lcat deficiency10.0APOA1
40polycystic ovary syndrome10.0APOA1, NR1H2
41rickets, vitamin d-resistant, type iia10.0CYP27B1, NR1H2
42biliary atresia10.0NR1H4
43hyperthyroidism10.0LDLR, CYP7A1
44uremia10.0LDLR, LPL
45complex regional pain syndrome10.0CALCA
46familial hypertriglyceridemia10.0APOB, LPL
47asthma10.0FLNC, NR1H2, NR1I2
48intrahepatic cholestasis10.0NR1H2, NR1I2, NR1H4
49dementia10.0SP1, CYP27A1, LPL
50glioblastoma multiforme10.0CYP27B1, SP1

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Clinical Features for Xanthomatosis

Drugs & Therapeutics for Xanthomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Xanthomatosis

Drug clinical trials:

Search ClinicalTrials for Xanthomatosis

Search NIH Clinical Center for Xanthomatosis

Search CenterWatch for Xanthomatosis

Genetic Tests for Xanthomatosis

Anatomical Context for Xanthomatosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Xanthomatosis:

33
Skin, Liver, Spinal cord, Brain, Lymph node, Heart, Smooth muscle, Small intestine, Colon, Adrenal gland, Monocytes, T cells, B cells

Animal Models for Xanthomatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Xanthomatosis

Sources:
51PubMed
See all sources

Articles related to Xanthomatosis:

(show top 50)    (show all 527)
idTitleAuthorsYear
1
Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. (23375591)
2013
2
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
3
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. (23124517)
2012
4
Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation. (23001091)
2012
5
Anti-human milk fat globulin staining of perifollicular xanthomatosis inA Fox-Fordyce disease. (23181442)
2012
6
Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis. (22658436)
2012
7
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. (21825196)
2011
8
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis. (22018287)
2011
9
Relapsing polychondritis complicated with Sweet's syndrome and normolipemic neutrophilic xanthomatosis successfully treated by dapsone. (21244390)
2011
10
Cerebrotendinous xanthomatosis associated with immune thrombocytopenia. (22791847)
2010
11
Normolipemic plane xanthomatosis with acute development preceding the clinical onset of rheumatoid arthritis. (19508500)
2009
12
Case Report: Cerebrotendinous xanthomatosis. (19881113)
2009
13
Teaching neuroimage: cerebrotendinous xanthomatosis. (18606959)
2008
14
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia. (18051740)
2007
15
Localised massive tumourous xanthomatosis of the small intestine. (17611762)
2007
16
Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up. (17603722)
2007
17
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? (16445943)
2006
18
Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis. (15131757)
2004
19
Primary amenorrhoea and xanthomatosis. (14987887)
2004
20
Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8. (12578886)
2003
21
Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. (12077546)
2002
22
Xanthomatosis. (12405396)
2002
23
Cerebrotendinous xanthomatosis. (12516712)
2002
24
Chenodeoxycholic treatment of cerebrotendinous xanthomatosis. (11245734)
2001
25
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
26
A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis. (9008528)
1997
27
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). (8614539)
1996
28
Normolipemic xanthomatosis. (7479470)
1995
29
Eruptive xanthomatosis with linear koebnerization. (7593789)
1995
30
Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. (7608723)
1995
31
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
32
Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. (8468594)
1993
33
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
34
Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. (2196342)
1990
35
Joint hypermobility in patients with cerebrotendinous xanthomatosis. (2625697)
1989
36
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
37
Xanthomatous keratitis, disseminated xanthomatosis, and atherosclerosis in Cuban tree frogs. (3727321)
1986
38
Biochemical diagnosis of cerebrotendinous xanthomatosis using reversed phase thin layer chromatography. (3086296)
1986
39
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. (4067433)
1985
40
A novel route for the biosynthesis of cholestanol, and its significance for the pathogenesis of cerebrotendinous xanthomatosis. (3865344)
1985
41
Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis. (4053393)
1985
42
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
43
Configuration at C-23 in 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23-tetrol excreted by patients with cerebrotendinous xanthomatosis. (7139840)
1982
44
A case of diffuse plane xanthomatosis. (6999052)
1980
45
Xanthomatosis resembling scleroderma in multiple myeloma. (581449)
1978
46
Dystrophic xanthomatosis in mycosis fungoides. (619765)
1978
47
Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases. (971346)
1976
48
Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5beta-cholestane-3alpha, 7alpha, 12alpha, 24xi, 25-pentol and 5beta-cholestane-3alpha, 7alpha, 12alpha, 23xi, 25-pentol. (1141769)
1975
49
A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. (4825231)
1974
50
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. (5134895)
1971

Genetic Variations for Xanthomatosis

Expression for genes affiliated with Xanthomatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 54Reactome, 30KEGG
See all sources

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
49.9LDLRAP1, LDLR
5
Vitamin D2 (ergocalciferol) metabolism
Hide members
9.9CYP27A1, CYP27B1, CYP3A4
69.9APOB, APOA1
79.9NR1I2, CYP3A4, HMGCR
89.9APOB, LDLR
9
Hide members
9.8NR1H4, NR1I2, NR1H2
10
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.8CYP3A4, CYP27B1, CALCA
119.7NR1H4, CYP3A4, NR1I2, CYP7A1
129.7CYP7A1, CYP27A1, CYP8B1
13
Hide members
9.7CYP7A1, CYP27A1, CYP8B1
14
Hide members
9.7MSR1, APOB, APOA1
159.7MSR1, APOB, APOA1
169.6HMGCR, LDLR, ABCA1
179.6APOA1, ABCA1, APOB
189.4HMGCR, CYP7A1, LDLR, CYP3A4, NR1H4
19
Hide members
9.3CYP27A1, CYP7A1, CYP3A4, CYP27B1, CYP8B1
20
Hide members
9.3CYP7A1, CYP27A1, CYP3A4, CYP27B1, CYP8B1
21
Hide members
9.3LDLR, LPL, APOA1, APOB
229.2LDLR, APOB, ABCA1, APOA1
239.2CYP8B1, CYP7A1, APOA1, LPL, CYP27A1
249.2NR1I2, APOB, APOA1, NR1H4, ABCA1
25
Hide members
9.0SP1, APOA1, CYP7A1, ABCA1, HMGCR
26
Hide members
9.0LDLR, SP1, HMGCR, NR1H2, LPL
27
Hide members
9.0APOA1, APOB, LPL, ABCA1, LDLR
288.8NR1I2, NR1H4, CYP27B1, CYP8B1, CYP3A4, CYP7A1
29
Hide members
8.6ABCA1, LDLR, HMGCR, APOA1, APOB, LPL
30
Hide members
8.1CYP27B1, APOB, FDX1, APOA1, LPL, CYP8B1

Compounds for genes affiliated with Xanthomatosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 209)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6CYP7A1
2cycloheximide4510.0LDLR, FDX1
3bile acid459.9NR1H4, CYP7A1, HMGCR, NR1H2
47alpha-hydroxy-4-cholesten-3-one459.9HMGCR, NR1H2, CYP27A1, CYP7A1, NR1I2
524s-hydroxy-cholesterol459.9HMGCR, CYP27A1, CYP7A1, ABCA1
6alpha tocopherol459.6NR1I2, NR1H2, MSR1, LDLR, LPL
7ursodeoxycholic acid45 11 2411.5NR1H4, NR1H2, NR1I2, CYP7A1, HMGCR, LDLR
8cholestyramine459.5APOB, HMGCR, LDLR, CYP7A1
927-hydroxycholesterol45 2910.5NR1H2, CYP7A1, ABCA1, CYP27A1, HMGCR, LDLR
10rosuvastatin45 50 29 1112.4LDLR, HMGCR, CYP3A4, APOB, APOA1
11fenofibric acid45 2910.4HMGCR, APOB, LPL, APOA1
12phenobarbital45 29 1111.4CYP7A1, CYP3A4, NR1H2, NR1I2, LPL, APOA1
13gemfibrozil45 29 1111.4APOB, LDLR, LPL, CYP3A4, APOA1, HMGCR
14ciprofibrate45 2910.3APOA1, APOB, LPL, NR1H2, HMGCR, LDLR
15taurocholate459.3APOB, HMGCR, CYP7A1, NR1H4, NR1H2, APOA1
16fluvastatin45 50 29 1112.3LDLR, APOB, CYP3A4, LPL, APOA1, HMGCR
17probucol45 1110.2APOB, LPL, ABCA1, HMGCR, LDLR, APOA1
1825-hydroxyvitamin d459.2CYP27A1, CYP27B1, FDX1, APOA1, CALCA
19pioglitazone45 50 29 1112.2LPL, NR1H2, CYP3A4, ABCA1, APOA1, APOB
20niacin45 1110.2APOA1, APOB, LDLR, HMGCR, ABCA1, LPL
21vitamin a45 11 2411.2LPL, APOA1, CYP27B1, APOB, NR1I2, NR1H2
2222r-hydroxycholesterol45 2910.2ABCA1, FDX1, NR1H4, APOA1, NR1H2, LDLR
23tocopherol459.1HMGCR, NR1I2, LPL, APOB, APOA1, NR1H2
24lovastatin45 50 60 29 1113.1HMGCR, LDLR, CYP3A4, NR1I2, LPL, APOA1
25ezetimibe45 1110.1HMGCR, LDLR, ABCA1, CYP3A4, APOA1, APOB
26pravastatin45 50 29 11 2413.1APOA1, APOB, LDLR, CYP7A1, HMGCR, ABCA1
27prostacyclin458.9APOA1, LDLR, SP1, HMGCR, CYP27A1, NR1H2
281,25 dihydroxy vitamin d3458.9FDX1, CYP27B1, CALCA, CYP27A1, SP1, NR1H2
29bezafibrate45 29 1110.9LDLR, HMGCR, ABCA1, CYP7A1, CYP3A4, APOA1
30cholesterol ester458.8APOA1, APOB, LPL, CYP7A1, ABCA1, HMGCR
31atorvastatin45 50 29 11 2412.8HMGCR, LPL, APOB, APOA1, CYP3A4, CYP7A1
32fenofibrate45 50 1110.8APOA1, HMGCR, APOB, LDLR, ABCA1, CYP3A4
33thyroxine45 249.8LDLR, APOA1, APOB, LPL, NR1I2, NR1H2
34phosphatidylcholine458.7APOA1, CALCA, LDLR, ABCA1, CYP7A1, LPL
35calcitriol45 60 11 2411.7LPL, CALCA, NR1I2, NR1H2, CYP27B1, NR1H4
36troglitazone45 29 60 1111.7NR1H2, SP1, HMGCR, LPL, NR1I2, CYP3A4
37chloramphenicol45 2 1110.6CYP3A4, CYP27B1, SP1, LDLR, LPL, CYP7A1
38cyclosporin a45 29 6010.6NR1H2, HMGCR, LDLR, CYP27A1, ABCA1, CALCA
39vitamin d458.6CALCA, LPL, SP1, NR1I2, NR1H2, NR1H4
40chenodeoxycholic acid45 29 11 2411.5APOB, NR1I2, CYP3A4, CYP8B1, NR1H4, NR1H2
41tamoxifen45 50 29 1111.5NR1H2, LDLR, SP1, NR1I2, LPL, APOB
42simvastatin45 50 60 29 11 2413.4APOB, LPL, CYP3A4, APOA1, CYP27A1, ABCA1
43genistein45 29 60 2 11 2413.2CYP27B1, ABCA1, LDLR, NR1H2, LPL, APOB
44dexamethasone45 50 29 1111.2NR1H2, NR1I2, LPL, FDX1, CYP3A4, CYP27A1
45retinoic acid45 249.0CYP3A4, CYP7A1, LDLR, ABCA1, SP1, CYP27B1
46steroid458.0NR1H4, CYP3A4, CYP27A1, CYP7A1, SP1, FDX1
47lipid457.4APOB, NR1H2, LDLR, NR1I2, LPL, MSR1
48sterol457.3SP1, HMGCR, ABCA1, CYP7A1, CYP27A1, FDX1
49testosterone45 60 11 2410.1LDLR, SP1, MSR1, ABCA1, CYP3A4, CYP27B1
50cholesterol45 29 11 249.9NR1H2, CYP27A1, CYP8B1, CYP27B1, NR1H4, FDX1

GO Terms for genes affiliated with Xanthomatosis

Sources:
16Gene Ontology
See all sources

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, APOB, MSR1
3very-low-density lipoprotein particleGO:0343619.7LPL, APOB, APOA1
4chylomicronGO:0426279.6LPL, APOB
5early endosomeGO:0057699.3LDLR, APOA1, APOB, LDLRAP1

Biological processes related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1calcitriol biosynthetic process from calciolGO:03637810.4CYP27B1, CYP3A4
2regulation of bile acid biosynthetic processGO:07085710.4NR1H4, CYP7A1
3vitamin D metabolic processGO:04235910.3CYP27B1, CYP3A4
4cholesterol importGO:07050810.2LDLR, APOA1
5lipoprotein biosynthetic processGO:04215810.2APOB, APOA1
6regulation of Cdc42 protein signal transductionGO:03248910.2APOA1, ABCA1
7exogenous drug catabolic processGO:04273810.2NR1I2, CYP3A4
8positive regulation of lipid storageGO:01088410.2NR1H2, APOB
9lipoprotein catabolic processGO:04215910.2APOB, LDLR
10high-density lipoprotein particle assemblyGO:03438010.2ABCA1, APOA1
11steroid metabolic processGO:00820210.2NR1I2, CYP3A4, CYP27B1
12negative regulation of cholesterol storageGO:01088710.1ABCA1, NR1H2
13positive regulation of triglyceride biosynthetic processGO:01086710.1LDLR, NR1H2
14sterol metabolic processGO:01612510.1CYP27A1, CYP7A1, CYP8B1
15positive regulation of cholesterol storageGO:01088610.1LPL, APOB, MSR1
16low-density lipoprotein particle clearanceGO:03438310.1LDLR, APOB
17bile acid biosynthetic processGO:00669910.1CYP8B1, CYP7A1, CYP27A1
18positive regulation of macrophage derived foam cell differentiationGO:01074410.1LPL, APOB, MSR1
19phospholipid homeostasisGO:05509110.0APOA1, ABCA1
20lipoprotein transportGO:0429539.9APOB, MSR1
21bile acid metabolic processGO:0082069.9NR1H4, CYP8B1, CYP7A1, CYP27A1
22phospholipid effluxGO:0337009.9APOA1, ABCA1
23cholesterol effluxGO:0333449.9APOB, ABCA1, APOA1
24positive regulation of cholesterol effluxGO:0108759.9ABCA1, NR1H2
25receptor-mediated endocytosisGO:0068989.8LDLR, LDLRAP1, MSR1, APOB
26negative regulation of macrophage derived foam cell differentiationGO:0107459.8ABCA1, NR1H2
27cholesterol transportGO:0303019.8MSR1, APOB, APOA1, LDLR
28retinoid metabolic processGO:0015239.7LPL, APOB, APOA1, LDLR
29phototransduction, visible lightGO:0076039.7LPL, APOA1, LDLR, APOB
30transcription initiation from RNA polymerase II promoterGO:0063679.7NR1H2, NR1H4, SP1, NR1I2
31endothelial cell proliferationGO:0019359.6APOA1, CALCA
32xenobiotic metabolic processGO:0068059.5CYP27B1, NR1I2, CYP8B1, CYP27A1, CYP7A1, CYP3A4
33lipoprotein metabolic processGO:0421579.4APOA1, LDLR, ABCA1, LPL, APOB
34cellular lipid metabolic processGO:0442559.2ABCA1, HMGCR, SP1, CYP7A1, NR1H2, APOA1
35cholesterol homeostasisGO:0426329.0ABCA1, APOB, NR1H2, CYP7A1, LDLRAP1, LDLR
36cholesterol metabolic processGO:0082038.9APOA1, LDLRAP1, LDLR, ABCA1, CYP27A1, FDX1
37small molecule metabolic processGO:0442817.3APOA1, APOB, LPL, FDX1, CYP27B1, LDLR

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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Sources for Xanthomatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet