MCID: XNT003
MIFTS: 48

Xanthomatosis malady

Metabolic diseases category
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Summaries for Xanthomatosis

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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 based summary: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia, and has symptoms including An important gene associated with Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Synthesis of bile acids and bile salts and PPAR signaling pathway. The compounds cholestanol and guggulsterone have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related mouse phenotype liver/biliary system.

Wikipedia:65 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ??????,... more...

Aliases & Classifications for Xanthomatosis

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Xanthomatosis, Aliases & Descriptions:

Name: Xanthomatosis 8 10 44 62
 
Xanthelasmatosis 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:3345
SNOMED-CT57 63103006
MeSH34 D014973

Related Diseases for Xanthomatosis

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

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis32.4CYP27A1
2sitosterolemia31.0HMGCR, CYP7A1
3familial hypercholesterolemia30.5HMGCR, CYP7A1
4osteoporosis30.1CYP3A4, HMGCR
5primary biliary cirrhosis30.0NR1H4, CYP3A4
6atherosclerosis30.0HMGCR, NR1H4, CYP7A1, CYP27A1
7rickets29.9CYP3A4, CYP27A1
8cholestasis29.5NR1H4, CYP3A4, CYP7A1, CYP27A1
9hypercholesterolemia29.4CYP27A1, CYP7A1, CYP3A4, NR1H4, HMGCR
10diabetes mellitus29.4HMGCR, NR1H4, CYP3A4
11myopathy29.4HMGCR, CYP3A4
12cataract10.4
13wolman disease10.3
14myeloma10.3
15tendinitis10.2
16hepatitis10.2
17ataxia10.2
18mycosis fungoides10.2
19fox fordyce disease10.2
20cerebritis10.2
21diarrhea10.2
22neuropathy10.2
23multiple myeloma10.1
24artery disease10.1
25dystonia10.1
26lipid storage disease10.1
27peripheral neuropathy10.1
28polyneuropathy10.1
29xanthoma disseminatum10.1
30arthritis10.0
31bone fracture10.0
32lymphedema10.0
33relapsing polychondritis10.0
34familial lipoprotein lipase deficiency10.0
35oromandibular dystonia10.0
36atopic dermatitis10.0
37cutaneous t cell lymphoma10.0
38dementia10.0
39dermatitis10.0
40hyperlipidemia type 310.0
41metabolic syndrome x10.0NR1H4, CYP7A1
42galactosemia9.9NR1H4, CYP3A4
43vascular disease9.9NR1H4, HMGCR
44fatty liver disease9.9CYP3A4, HMGCR
45angina pectoris9.9
46acute myocardial infarction9.9
47cerebellar ataxia9.9
48glomerulonephritis9.9
49glycogen storage disease9.9
50hypertension9.9

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 abnormality of the skin HP:0000951
2 hypercholesterolemia HP:0003124

Drugs & Therapeutics for Xanthomatosis

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Drug clinical trials:

Search ClinicalTrials for Xanthomatosis

Search NIH Clinical Center for Xanthomatosis

Genetic Tests for Xanthomatosis

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Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

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

Animal Models for Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Xanthomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0NR1H4, CYP7A1, CYP27A1

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 533)
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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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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Pathways related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CYP7A1, CYP27A1
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.5CYP7A1, CYP27A1
3
Show member pathways
9.3HMGCR, CYP7A1
4
Show member pathways
9.3HMGCR, CYP7A1
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.1CYP3A4, CYP7A1
6
Show member pathways
9.0CYP3A4, HMGCR
7
Show member pathways
8.7CYP3A4, CYP7A1, CYP27A1
8
Show member pathways
8.7CYP3A4, CYP7A1, CYP27A1
98.6NR1H4, CYP3A4, CYP7A1
108.6CYP7A1, CYP3A4, NR1H4
11
Show member pathways
8.1CYP27A1, CYP7A1, CYP3A4, HMGCR
128.0HMGCR, NR1H4, CYP3A4, CYP7A1

Compounds for genes affiliated with Xanthomatosis

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Compounds related to Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1cholestanol449.9CYP27A1, CYP7A1
2guggulsterone44 28 6111.8CYP7A1, NR1H4
3apomine449.8NR1H4, HMGCR
47-dehydrocholesterol44 2410.7HMGCR, CYP27A1
5sitosterol449.7CYP7A1, HMGCR
6farnesol44 28 24 1112.7HMGCR, NR1H4
77beta-hydroxycholesterol44 2810.7HMGCR, CYP7A1
87-ketocholesterol44 2410.7HMGCR, CYP27A1
9cholestyramine449.7HMGCR, CYP7A1
10lathosterol44 2410.6HMGCR, CYP7A1
11Ergocalciferol24 1110.6CYP27A1, CYP3A4
12lithocholic acid44 28 2411.6NR1H4, CYP7A1
13pegvisomant44 1110.5CYP3A4, CYP27A1
14naringin28 4410.4HMGCR, CYP3A4
15ranolazine50 44 1111.4CYP3A4, HMGCR
16cholic acid44 28 24 1112.4NR1H4, CYP7A1, CYP27A1
1725-hydroxycholesterol44 28 2411.3CYP7A1, HMGCR
187alpha-hydroxy-4-cholesten-3-one449.3HMGCR, CYP7A1, CYP27A1
1924s-hydroxy-cholesterol449.3CYP27A1, CYP7A1, HMGCR
2027-hydroxycholesterol44 2810.3HMGCR, CYP7A1, CYP27A1
21nefazodone44 50 1111.3HMGCR, CYP3A4
22itraconazole44 1110.3CYP3A4, HMGCR
23clofibrate44 28 1111.3HMGCR, CYP3A4
24bile acid449.3HMGCR, NR1H4, CYP7A1
25clarithromycin44 1110.3HMGCR, CYP3A4
26taurocholate449.2HMGCR, NR1H4, CYP7A1
27ursodeoxycholic acid44 24 1111.2HMGCR, NR1H4, CYP7A1
28ticlopidine44 1110.2HMGCR, CYP3A4
29prostacyclin449.2CYP27A1, CYP7A1, HMGCR
30mevalonate449.2HMGCR, NR1H4, CYP7A1
31mibefradil44 28 1111.1HMGCR, CYP3A4
32nelfinavir44 50 1111.1HMGCR, CYP3A4
33ezetimibe44 1110.0HMGCR, CYP3A4
34heme28 24 1111.0CYP3A4, CYP7A1, CYP27A1
35calcitriol44 61 24 1112.0CYP27A1, CYP3A4, NR1H4
36simvastatin44 50 61 28 24 1113.9HMGCR, CYP3A4, CYP27A1
37bezafibrate44 28 1110.9CYP7A1, CYP3A4, HMGCR
38diltiazem44 28 50 1111.9HMGCR, CYP3A4
39pravastatin44 50 28 24 1112.9HMGCR, CYP3A4, CYP7A1
40atorvastatin44 50 28 24 1112.9CYP7A1, CYP3A4, HMGCR
41sterol448.8CYP27A1, CYP7A1, NR1H4, HMGCR
42cholesterol44 28 24 1111.7HMGCR, NR1H4, CYP7A1, CYP27A1
43amiodarone44 50 28 1111.7HMGCR, CYP3A4
44steroid448.5NR1H4, CYP3A4, CYP7A1, CYP27A1
45lipid448.5CYP27A1, CYP7A1, NR1H4, HMGCR
46NADP248.5CYP27A1, CYP7A1, CYP3A4, HMGCR
47nadph44 249.5HMGCR, CYP3A4, CYP7A1, CYP27A1
48retinoic acid44 249.5CYP27A1, CYP7A1, CYP3A4, NR1H4
49chenodeoxycholic acid44 28 24 1111.0HMGCR, NR1H4, CYP3A4, CYP7A1, CYP27A1
50dexamethasone44 50 28 1111.0HMGCR, NR1H4, CYP3A4, CYP7A1, CYP27A1

GO Terms for genes affiliated with Xanthomatosis

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Cellular components related to Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.5HMGCR, CYP3A4, CYP7A1

Biological processes related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:0708579.5NR1H4, CYP7A1
2sterol metabolic processGO:0161259.5CYP27A1, CYP7A1
3bile acid biosynthetic processGO:0066999.4CYP7A1, CYP27A1
4cellular lipid metabolic processGO:0442559.3HMGCR, CYP7A1
5bile acid metabolic processGO:0082069.1NR1H4, CYP7A1, CYP27A1
6xenobiotic metabolic processGO:0068058.7CYP3A4, CYP7A1, CYP27A1
7small molecule metabolic processGO:0442817.8HMGCR, CYP3A4, CYP7A1, CYP27A1

Molecular functions related to Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D3 25-hydroxylase activityGO:0303439.2CYP3A4, CYP27A1
2steroid hydroxylase activityGO:0083958.9CYP27A1, CYP3A4
3iron ion bindingGO:0055068.7CYP3A4, CYP7A1, CYP27A1
4heme bindingGO:0200378.6CYP3A4, CYP7A1, CYP27A1

Products for genes affiliated with Xanthomatosis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet