CTX
MCID: CRB011
MIFTS: 77

Cerebrotendinous Xanthomatosis (CTX) malady

Neuronal diseases, Eye diseases, Liver diseases, Skin diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).

MalaCards: Cerebrotendinous Xanthomatosis, also known as CTX, is related to xanthomatosis and osteoporosis, and has symptoms including hypertonia/spasticity/rigidity/stiffness, peripheral neuropathy and angor pectoris/myocardial infarction. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Scavenging by Class A Receptors and Vitamin digestion and absorption. The compounds estrogen and 24s-hydroxy-cholesterol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related mouse phenotypes are integument and liver/biliary system.

Disease Ontology:8 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

NIH Rare Diseases:42 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013

Wikipedia:63 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... more...

Description from OMIM:46 213700

GeneReviews summary for ctx

Aliases & Classifications for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
cerebrotendinous xanthomatosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

cerebrotendinous xanthomatosis 8 9 19 42 20 21 46 10 48
ctx 19 42 21 48
cholestanol storage disease 8 22 21
cerebral cholesterinosis 19 42 21
xanthomatosis, cerebrotendinous 21 60
van bogaert-scherer-epstein disease 21
sterol 27-hydroxylase deficiency 48
cerebrotendinous cholesterinosis 21
xanthomatosis cerebrotendinous 44


External Ids:

Disease Ontology8 DOID:4810
NCIt39 C84628
MeSH34 D019294
OMIM46 213700
SNOMED-CT56 63246000
MESH via Orphanet35 D019294
ICD10 via Orphanet26 E75.5
SNOMED-CT via Orphanet57 63246000
UMLS via Orphanet61 C0238052

Related Diseases for Cerebrotendinous Xanthomatosis

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis32.1CYP7A1, APOB
2osteoporosis30.6CALCA, NR1H2, CYP27B1, CYP3A4, HMGCR, SP1
3hepatitis30.6CYP3A4
4familial hypercholesterolemia30.4HMGCR, APOB
5dementia30.4CYP27A1, SP1
6sitosterolemia30.2CYP7A1, HMGCR
7smith-lemli-opitz syndrome30.2HMGCR
8acute myocardial infarction30.2HMGCR, APOB, APOA1
9rickets30.2CYP27A1, CYP3A4, CYP27B1, NR1H2
10myocardial infarction30.2SP1, HMGCR, APOB, APOA1
11atherosclerosis30.2APOA1, APOB, NR1H2, NR1H4, CYP27A1, CYP7A1
12osteoarthritis30.0NR1H4, NR1H2, CALCA
13rheumatoid arthritis30.0APOA1, NR1H2, CYP27B1, CYP3A4, HMGCR
14arthritis30.0CALCA, NR1H2, HMGCR, SP1
15hepatitis b29.8SP1, APOA1
16obesity29.8APOA1, APOB, NR1H2, NR1H4, CYP3A4
17breast cancer29.8CALCA, NR1H2, NR1H4, CYP27B1, CYP3A4, SP1
18cataract10.6
19pneumonia10.6
20diarrhea10.5
21neuropathy10.5
22cerebritis10.4
23peripheral neuropathy10.4
24polyneuropathy10.4
25bone fracture10.3
26coronary artery disease10.3
27lipid storage disease10.3
28tendinitis10.2
29parametritis10.2
30tabes dorsalis10.2
31lymphangioleiomyomatosis10.2
32coronary aneurysm10.2
33blepharospasm10.2
34nephrolithiasis10.2
35nephrocalcinosis10.2
36aneurysm disease10.2
37autonomic neuropathy10.2
38brain disease10.2
39capillary disease10.2
40cerebellar ataxia10.2
41gallbladder cancer10.2
42leukodystrophy10.2
43liver disease10.2
44multiple sclerosis10.2
45myopathy10.2
46tauopathy10.2
47thrombocytopenia10.2
48neurologic diseases10.2
49char syndrome10.2
50shigellosis10.1

Graphical network of the top 20 diseases related to Cerebrotendinous Xanthomatosis:



Diseases related to cerebrotendinous xanthomatosis

Clinical Features for Cerebrotendinous Xanthomatosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

213700

Clinical synopsis from OMIM:

213700

Symptoms:

48 (show all 31)
  • hypertonia/spasticity/rigidity/stiffness
  • peripheral neuropathy
  • angor pectoris/myocardial infarction
  • xanthomas/lipomas
  • dystonia/torticollis/writer's cramp/blepharospasms
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • extrapyramidal syndrome
  • midbrain/brainstem/pons/medulla anomalies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • hepatitis/icterus/cholestasis
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • anomalies of eyes and vision
  • intracranial/cerebral calcifications
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypereflexia
  • pyramidal syndrome
  • myoclonus/fasciculations
  • eeg anomalies
  • autosomal recessive inheritance
  • tremor
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • restricted joint mobility/joint stiffness/ankylosis
  • malabsorption/chronic diarrhea/steatorrhea
  • delirium/hallucination
  • psychic/behavioural troubles
  • cataract/lens opacification
  • muscle weakness/flaccidity
  • psychic/psychomotor regression/dementia/intellectual decline
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • joint/articular deformation

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

Search CenterWatch for Cerebrotendinous Xanthomatosis

Drug clinical trials:

Search ClinicalTrials for Cerebrotendinous Xanthomatosis

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis

Search CenterWatch for Cerebrotendinous Xanthomatosis

Genetic Tests for Cerebrotendinous Xanthomatosis

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20GeneTests, 22GTR
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Genetic tests related to Cerebrotendinous Xanthomatosis:

id Genetic test Affiliating Genes
1 Cerebrotendinous Xanthomatosis20 CYP27A1
2 Cholestanol Storage Disease22

Anatomical Context for Cerebrotendinous Xanthomatosis

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32MalaCards
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MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

32
Brain, Bone, Lung, Spinal cord, Eye, Liver, Skin, Kidney, Pons, Testes, Heart

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4FLNC, NR1H2, CYP27B1, CYP7A1, SP1, CALCA
2MP:00053707.0SP1, APOA1, APOB, NR1H2, NR1H4, CYP8B1
3MP:00053766.1CALCA, APOA1, APOB, NR1H2, NR1H4, CYP27B1

Publications for Cerebrotendinous Xanthomatosis

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50PubMed
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Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
2
Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging. (22527785)
2012
3
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. (21958693)
2012
4
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. (21955034)
2012
5
Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. (21627786)
2011
6
Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis. (20558929)
2010
7
Teaching neuroimage: cerebrotendinous xanthomatosis. (18606959)
2008
8
Cerebrotendinous xanthomatosis]. (17583829)
2007
9
Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up. (17603722)
2007
10
Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. (17012751)
2007
11
Cerebrotendinous xanthomatosis. (17159091)
2006
12
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? (16445943)
2006
13
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. (15549503)
2004
14
Cerebrotendinous xanthomatosis. (12933951)
2003
15
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. (14572142)
2003
16
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. (11181744)
2001
17
Visual vignette. A case presentation: cerebrotendinous xanthomatosis. (11430306)
2001
18
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. (11133792)
2001
19
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
20
Neuroimages: cerebrotendinous xanthomatosis. (10953208)
2000
21
Treatment and follow-up of children with cerebrotendinous xanthomatosis. (9578968)
1998
22
Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link? (9228390)
1997
23
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
24
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. (8827518)
1996
25
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
26
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family. (8162025)
1994
27
Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. (8052141)
1994
28
A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis. (8006521)
1994
29
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. (7977352)
1994
30
Cerebrotendinous Xanthomatosis (20301583)
1993
31
Cerebrotendinous xanthomatosis. (1320501)
1992
32
Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. (2072121)
1991
33
Stable isotope dilution assay for 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol and 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol in human serum using [26,27-D6] labeled internal standards; a highly accurate approach to the serological diagnosis of cerebrotendinous xanthomatosis. (1934504)
1991
34
Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic acid. (2282689)
1990
35
Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis. (2107278)
1990
36
Cerebrotendinous xanthomatosis. A case report. (3399978)
1988
37
Studies of the mechanism of the increased biosynthesis of cholestanol in cerebrotendinous xanthomatosis. The activity of delta 5-3 beta-hydroxysteroid dehydrogenase. (3868019)
1985
38
Depression in a patient with dementia secondary to cerebrotendinous xanthomatosis. (6886686)
1983
39
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
40
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. (7097127)
1982
41
Abnormal high density lipoproteins in cerebrotendinous xanthomatosis. (7298854)
1981
42
Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors. (6792308)
1981
43
Configurational assignment of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23, 25-pentol excreted by patients with cerebrotendinous xanthomatosis (a circular dichroism study). (442127)
1979
44
Metabolism of potential precursors of chenodeoxycholic acid in cerebrotendinous xanthomatosis (CTX). (438653)
1979
45
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
46
Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX). (618433)
1978
47
Quantitative determination of cholestanol in plasma with mass fragmentography. Biochemical diagnosis of cerebrotendinous xanthomatosis. (794060)
1976
48
Cerebrotendinous xanthomatosis (cholestanolosis). Investigations on two sisters and their family. (1130172)
1975
49
Cerebrotendinous xanthomatosis. Clinical and pathological studies. (5652996)
1968
50
Cerebrotendinous xanthomatosis. (4868195)
1968

Genetic Variations for Cerebrotendinous Xanthomatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebrotendinous Xanthomatosis:

62
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303
2CYP27A1p.Arg479CysVAR_001304
3CYP27A1p.Arg395SerVAR_012285
4CYP27A1p.Arg405GlnVAR_012286
5CYP27A1p.Arg474GlnVAR_012287
6CYP27A1p.Arg474TrpVAR_012288
7CYP27A1p.Gly145GluVAR_016966

Expression for genes affiliated with Cerebrotendinous Xanthomatosis

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

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6APOB, APOA1
29.6APOB, APOA1
39.6APOB, APOA1
4
Vitamin D2 (ergocalciferol) metabolism
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9.4CYP27A1, CYP3A4, CYP27B1
59.4NR1H4, CYP3A4, CYP7A1
6
Hide members
9.3NR1H2, HMGCR, SP1
79.3APOA1, APOB, NR1H4
8
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.3CYP3A4, CYP27B1, CALCA
99.2CYP7A1, CYP27A1, CYP8B1
10
Hide members
9.2CYP7A1, CYP27A1, CYP8B1
11
Hide members
9.1APOA1, APOB, CYP7A1, HMGCR
129.1NR1H4, CYP3A4, CYP7A1, HMGCR
13
Hide members
9.1APOA1, CYP7A1, HMGCR, SP1
148.8APOA1, CYP8B1, CYP27A1, CYP7A1
15
Hide members
8.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
16
Hide members
8.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
178.3CYP7A1, CYP3A4, CYP8B1, CYP27B1, NR1H4
18
Hide members
6.9APOA1, APOB, FDX1, CYP27B1, CYP8B1, CYP3A4

Compounds for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show top 50)    (show all 152)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6CYP7A1
224s-hydroxy-cholesterol4410.0HMGCR, CYP7A1, CYP27A1
37alpha-hydroxy-4-cholesten-3-one449.8HMGCR, CYP7A1, CYP27A1, NR1H2
4sitosterol449.8HMGCR, CYP7A1, APOB
527-hydroxycholesterol44 2810.8CYP7A1, CYP27A1, HMGCR, NR1H2
6colestipol449.8HMGCR, APOB, APOA1
7alfacalcidol44 59 1111.7CALCA, CYP27B1, CYP27A1
8bile acid449.7NR1H2, HMGCR, NR1H4, CYP7A1
9Ergocalciferol11 2410.7CYP27B1, CYP27A1, CYP3A4
10ursodeoxycholic acid44 11 2411.6HMGCR, NR1H4, NR1H2, CYP7A1
11campesterol44 2410.6HMGCR, APOB, APOA1
127-ketocholesterol44 2410.5CYP27A1, APOA1, APOB, HMGCR
13cholestyramine449.5CYP7A1, HMGCR, APOB
14cholesterol ester449.5APOA1, HMGCR, CYP7A1, APOB
15ciprofibrate44 2810.4HMGCR, NR1H2, APOB, APOA1
16tocopherol449.4APOA1, HMGCR, APOB, NR1H2
17ketoconazole44 28 11 2412.3HMGCR, NR1H2, CYP27B1, CYP3A4
1822r-hydroxycholesterol44 2810.2NR1H2, FDX1, NR1H4, APOA1
19gemfibrozil44 28 1111.2CYP3A4, APOB, APOA1, HMGCR
20rosuvastatin44 49 28 1112.2HMGCR, CYP3A4, APOB, APOA1
21cerivastatin44 49 28 1112.2HMGCR, APOB, CYP3A4, APOA1
22fenofibric acid44 2810.1HMGCR, APOB, APOA1
23cholic acid44 28 11 2412.1CYP7A1, CYP27A1, CYP8B1, NR1H4
24bezafibrate44 28 1111.0APOB, CYP3A4, APOA1, CYP7A1, HMGCR
25pravastatin44 49 28 11 2413.0HMGCR, APOA1, APOB, CYP3A4, CYP7A1
26raloxifene44 28 49 1112.0CALCA, CYP3A4, APOA1, NR1H2
2725-hydroxyvitamin d449.0CYP27A1, CALCA, APOA1, FDX1, CYP27B1
28atorvastatin44 49 28 11 2413.0APOA1, HMGCR, APOB, CYP3A4, CYP7A1
29ezetimibe44 119.9HMGCR, APOA1, APOB, NR1H2, CYP3A4
30fenofibrate44 49 1110.9APOB, NR1H2, CYP3A4, HMGCR, APOA1
31taurocholate448.9APOA1, APOB, NR1H2, NR1H4, CYP7A1, HMGCR
32rifampicin44 28 5910.9CYP7A1, NR1H2, CYP3A4, SP1
33kininogen448.9APOA1, APOB, NR1H4, NR1H2
34thyroxine44 249.9CALCA, HMGCR, APOA1, APOB, NR1H2
35prostacyclin448.9HMGCR, CYP7A1, CYP27A1, SP1, APOA1, NR1H2
36fluvastatin44 49 28 1111.9APOA1, HMGCR, APOB, CYP3A4
37vitamin d448.7SP1, CYP27B1, CYP27A1, NR1H2, CALCA, NR1H4
38simvastatin44 49 59 28 11 2413.5APOA1, APOB, CYP3A4, CYP27A1, HMGCR, SP1
391,25 dihydroxy vitamin d3448.5CALCA, NR1H2, FDX1, CYP27B1, CYP27A1, SP1
40heme28 11 2410.5CYP27B1, CYP27A1, CYP7A1, CYP3A4, CYP8B1
41dexamethasone44 49 28 1111.4FDX1, CYP7A1, CYP27A1, CYP3A4, NR1H2, SP1
42calcitriol44 59 11 2411.3SP1, CALCA, NR1H2, CYP27A1, CYP3A4, CYP27B1
43retinoic acid44 248.9CYP27B1, CYP27A1, NR1H4, NR1H2, SP1, APOA1
44nadph44 248.9FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
45steroid447.8CYP7A1, SP1, CYP3A4, CYP27A1, CYP27B1, FDX1
46chenodeoxycholic acid44 28 11 2410.7HMGCR, APOB, CYP7A1, NR1H2, NR1H4, CYP8B1
47lipid447.7NR1H2, HMGCR, CYP7A1, CYP27A1, CYP27B1, FDX1
48testosterone44 59 11 2410.1CALCA, APOA1, SP1, CYP3A4, CYP27B1, FDX1
49cholesterol44 28 11 249.9APOA1, HMGCR, NR1H2, NR1H4, FDX1, CYP27B1
50sterol446.7APOB, CYP27A1, CYP7A1, HMGCR, SP1, APOA1

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

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

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.6APOB, APOA1
2endocytic vesicle lumenGO:0716829.3APOB, APOA1
3endoplasmic reticulum membraneGO:0057898.1HMGCR, CYP7A1, CYP3A4, CYP8B1, APOB

Biological processes related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:07085710.1CYP7A1, NR1H4
2calcitriol biosynthetic process from calciolGO:0363789.9CYP3A4, CYP27B1
3lipoprotein biosynthetic processGO:0421589.8APOA1, APOB
4positive regulation of lipid storageGO:0108849.8NR1H2, APOB
5vitamin D metabolic processGO:0423599.7CYP3A4, CYP27B1
6endothelial cell proliferationGO:0019359.7APOA1, CALCA
7cholesterol effluxGO:0333449.6APOB, APOA1
8sterol metabolic processGO:0161259.4CYP7A1, CYP27A1, CYP8B1
9bile acid biosynthetic processGO:0066999.4CYP8B1, CYP27A1, CYP7A1
10cholesterol transportGO:0303019.3APOB, APOA1
11response to lipopolysaccharideGO:0324969.3APOB, NR1H4, CYP27B1
12cholesterol homeostasisGO:0426329.3CYP7A1, NR1H2, APOB, APOA1
13bile acid metabolic processGO:0082069.1NR1H4, CYP8B1, CYP27A1, CYP7A1
14cholesterol metabolic processGO:0082039.0APOA1, APOB, FDX1, CYP27A1
15cellular lipid metabolic processGO:0442559.0APOA1, NR1H2, CYP7A1, HMGCR, SP1
16xenobiotic metabolic processGO:0068058.6CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
17small molecule metabolic processGO:0442816.4SP1, APOA1, APOB, FDX1, CYP27B1, CYP8B1

Molecular functions related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1retinoid X receptor bindingGO:0469659.8NR1H4, NR1H2
2vitamin D3 25-hydroxylase activityGO:0303439.7CYP27A1, CYP3A4
3steroid hydroxylase activityGO:0083959.6CYP3A4, CYP27A1
4cholesterol transporter activityGO:0171279.3APOB, APOA1
5heme bindingGO:0200378.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
6iron ion bindingGO:0055067.9CYP7A1, CYP27A1, CYP3A4, CYP8B1, CYP27B1, FDX1
7electron carrier activityGO:0090557.8FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1

Products for genes affiliated with Cerebrotendinous Xanthomatosis

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  • Antibodies
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Sources for Cerebrotendinous 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