CTX
MCID: CRB011
MIFTS: 65

Cerebrotendinous Xanthomatosis (CTX)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebrotendinous Xanthomatosis

MalaCards integrated aliases for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 56 12 24 52 25 58 73 36 13 15
Ctx 56 52 25 58 73
Cholestanol Storage Disease 12 25 29 6
Cerebral Cholesterinosis 56 52 25 73
Xanthomatosis, Cerebrotendinous 43 39 71
Sterol 27-Hydroxylase Deficiency 52 58
Xanthomatosis Cerebrotendinous 74 54
Van Bogaert-Scherer-Epstein Disease 25
Cerebrotendinous Cholesterinosis 25
Cholestanolosis 25

Characteristics:

Orphanet epidemiological data:

58
cerebrotendinous xanthomatosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,<1/1000000 (Spain),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare skin diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Cerebrotendinous Xanthomatosis

Genetics Home Reference : 25 Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in 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 the body in the form of fatty yellow nodules called xanthomas. These xanthomas are most commonly found in the brain and in connective tissue called tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). People with cerebrotendinous xanthomatosis often develop neurological problems in early adulthood that are thought to be caused by an abnormal accumulation of fats and an increasing number of xanthomas in the brain. These neurological problems include recurrent seizures (epilepsy), movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), decline in intellectual function (dementia), hallucinations, and depression. Xanthomas can accumulate in the fatty substance that insulates and protects nerves (myelin), causing the destruction of myelin and disrupting nerve signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems. Xanthomas in the tendons begin to form in early adulthood. The most common areas for xanthomas to develop are tendons in the hands, elbows, knees, neck, and in the Achilles tendon, which connects the heel of the foot to the calf muscles in the leg. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. While many affected people develop tendon xanthomas, these nodules may not be easily visible underneath the skin. Other features of cerebrotendinous xanthomatosis include clouding of the lenses of the eyes (cataracts) and chronic diarrhea in childhood; a reduced ability to produce and release a digestive fluid called bile (cholestasis), which can lead to a yellowing of the skin or whites of the eyes (jaundice); and progressively brittle bones that are prone to fracture (osteoporosis). People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease or respiratory failure because of lipid accumulation in the heart or lungs, respectively. If untreated, the signs and symptoms related to cerebrotendinous xanthomatosis worsen over time; however, this condition varies greatly among those who are affected.

MalaCards based summary : Cerebrotendinous Xanthomatosis, also known as ctx, is related to lipid storage disease and hypercholesterolemia, familial, 1, and has symptoms including angina pectoris, muscle spasticity and cerebellar ataxia. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Primary bile acid biosynthesis and PPAR signaling pathway. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and lung, and related phenotypes are cataract and intellectual disability

Disease Ontology : 12 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 : 52 Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease ). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts ), tendon problems and progressive neurologic problems, such as epilepsy , movement disorders, impaired speech (dysarthria ), loss of sensation in the arms and legs (peripheral neuropathy ), dementia , hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis ) and an increased risk of developing heart or lung failure because of lipid buildup. It is caused by mutations in the CYP27A1 gene . Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, coenzyme Q10 and surgery to remove cataracts.

OMIM : 56 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. Dotti et al. (2001) examined the ophthalmologic findings of 13 CTX patients. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. Premature retinal senescence was also observed. In a tabular presentation, Moghadasian et al. (2002) compared and contrasted CTX with 2 other lipid disorders with certain similarities and clinical course: familial hypercholesterolemia (see 143890) and sitosterolemia (see 210250). (213700)

KEGG : 36 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.

UniProtKB/Swiss-Prot : 73 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 74 Cerebrotendinous xanthomatosis also called cerebral cholesterosis, is an autosomal recessive form of... more...

GeneReviews: NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

Diseases related to Cerebrotendinous Xanthomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 264)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 31.6 NR1H4 CYP7A1 CYP27A1
2 hypercholesterolemia, familial, 1 31.0 NR1H4 HMGCR CYP7A1
3 sitosterolemia 30.9 HMGCR CYP7A1 CYP27A1
4 rickets 30.4 CYP3A4 CYP27B1 CYP27A1 CALCA
5 smith-lemli-opitz syndrome 29.9 HMGCR CYP46A1 CYP27A1
6 inherited metabolic disorder 29.8 NR1H4 HMGCR CRYAA
7 xanthomatosis 29.7 VCL NR1I2 NR1H4 NR1H3 HNF4A HMGCR
8 cholestasis 28.5 NR1I2 NR1H4 NR1H2 HSD3B7 HNF4A CYP7B1
9 leukodystrophy 11.9
10 bile acid synthesis defect, congenital, 1 11.5
11 congenital toxoplasmosis 11.5
12 cataract 11.1
13 ataxia and polyneuropathy, adult-onset 11.0
14 neuropathy 10.9
15 peripheral nervous system disease 10.9
16 autosomal recessive disease 10.8
17 diarrhea 10.8
18 cholera 10.7
19 polyneuropathy 10.7
20 acute cystitis 10.6
21 bone resorption disease 10.6
22 spastic paraparesis 10.6
23 spasticity 10.6
24 alacrima, achalasia, and mental retardation syndrome 10.6
25 disorder of bile acid synthesis 10.6
26 dystonia 10.5
27 cerebral atrophy 10.5
28 osteoarthritis 10.5
29 48,xyyy 10.5
30 suppressor of tumorigenicity 11 10.5
31 osteonecrosis 10.5
32 tremor 10.5
33 osteoporosis 10.4
34 bone mineral density quantitative trait locus 8 10.4
35 bone mineral density quantitative trait locus 15 10.4
36 dementia 10.4
37 arteriosclerosis 10.4
38 neurometabolic disease 10.4
39 gastroenteritis 10.4
40 bone disease 10.4
41 atherosclerosis susceptibility 10.4
42 visual epilepsy 10.4
43 familial hypercholesterolemia 10.4
44 liver disease 10.4
45 myopathy 10.4
46 movement disease 10.4
47 paraplegia 10.4
48 learning disability 10.4
49 myoclonus 10.4
50 seizure disorder 10.4

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



Diseases related to Cerebrotendinous Xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

Human phenotypes related to Cerebrotendinous Xanthomatosis:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 xanthelasma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001114
6 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
7 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
8 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
9 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
10 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
11 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
12 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
13 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
14 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
15 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
16 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
17 angina pectoris 58 31 frequent (33%) Frequent (79-30%) HP:0001681
18 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
19 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
20 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
21 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
22 abnormality of the periventricular white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002518
23 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
24 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
25 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
26 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
27 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
28 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
29 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
30 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
31 seizure 31 occasional (7.5%) HP:0001250
32 behavioral abnormality 58 Frequent (79-30%)
33 seizures 58 Occasional (29-5%)
34 ataxia 31 HP:0001251
35 osteoporosis 31 HP:0000939
36 respiratory insufficiency 31 HP:0002093
37 cholelithiasis 31 HP:0001081
38 abnormality of the eye 58 Very frequent (99-80%)
39 cerebellar atrophy 31 HP:0001272
40 optic disc pallor 31 HP:0000543
41 cerebral atrophy 31 HP:0002059
42 dementia 31 HP:0000726
43 xanthomatosis 58 Very frequent (99-80%)
44 abnormality of cholesterol metabolism 58 Frequent (79-30%)
45 abnormality of the dentate nucleus 31 HP:0100321
46 pseudobulbar paralysis 31 HP:0007024
47 tendon xanthomatosis 31 HP:0010874
48 eeg with generalized slow activity 31 HP:0010845
49 delusions 31 HP:0000746
50 emg: axonal abnormality 31 HP:0003482

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
dementia
pseudobulbar paralysis
cerebellar ataxia
mental retardation
more
Cardiovascular Heart:
myocardial infarction
angina

Respiratory Lung:
respiratory insufficiency

Head And Neck Eyes:
juvenile cataracts

Laboratory Abnormalities:
normal to slightly elevated plasma cholesterol
elevated plasma cholestanol
elevated urinary 7 alpha-hydroxylated bile alcohols
sterol 27-hydroxylase deficiency

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skeletal:
osteoporosis

Skin Nails Hair Skin:
xanthelasma
tuberous xanthoma

Skeletal Limbs:
tendon xanthomas (achilles tendon, tibial tuberosity)
mri of achilles tendon shows diffuse enlargement of the tendon, multiple hypersignal areas in t(1)- and t(2)-weighted images
fracture

Clinical features from OMIM:

213700

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, muscle spasticity, cerebellar ataxia

GenomeRNAi Phenotypes related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.2 NR1I2
2 Decreased viability GR00221-A-2 10.2 NR1H4 NR1I2
3 Decreased viability GR00221-A-4 10.2 NR1H4
4 Decreased viability GR00240-S-1 10.2 NR1H2
5 Decreased viability GR00249-S 10.2 CRYAA CYP7B1 HSD3B7 NR1H2 NR1H4 SP1
6 Decreased viability GR00301-A 10.2 NR1I2
7 Decreased viability GR00381-A-1 10.2 CALCA HSD3B7
8 Decreased viability GR00386-A-1 10.2 HNF4A HSD3B7 NR1H2 TTPA
9 Decreased viability GR00402-S-2 10.2 CRYAA NR1H2 SP1
10 Reduced mammosphere formation GR00396-S 9.28 CYP27B1 CYP46A1 FLNC HMGCR HNF4A HSD3B7
11 Increased the percentage of infected cells GR00402-S-1 8.65 FDX1

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 CYP27A1 CYP27B1 CYP46A1 CYP7A1 CYP7B1 FLNC
2 cardiovascular system MP:0005385 10.02 CYP27A1 CYP7A1 FLNC HNF4A NR1H2 NR1H3
3 integument MP:0010771 9.76 CYP27B1 CYP7A1 CYP7B1 FLNC HSD3B7 NR1H2
4 liver/biliary system MP:0005370 9.65 CYP27A1 CYP7A1 HMGCR HNF4A HSD3B7 NR1H2
5 mortality/aging MP:0010768 9.44 CYP7A1 CYP7B1 FDX1 FLNC HMGCR HNF4A

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

Drugs for Cerebrotendinous Xanthomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
3
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
4 Dihydromevinolin Phase 2
5 Lipid Regulating Agents Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Hypolipidemic Agents Phase 2
10 L 647318 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis Recruiting NCT04270682 Phase 3 Blinded CDCA 250 mg TID;Placebo;Open-Label CDCA 250 mg TID;Rescue Medication CDCA 250 mg TID;CDCA Weight-Based Dose TID
2 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
3 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
4 An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts Recruiting NCT02638220
5 An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
6 A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient Enrolling by invitation NCT04218006
7 An Epidemiological Observational Study for Retrospective and Prospective Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease in Neurology and Pediatric Metabolism Clinics in Turkey Not yet recruiting NCT04113083
8 Biologic Significance of Cholestanol in Man Withdrawn NCT00018694 Chenodeoxycholic Acid

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis

Cochrane evidence based reviews: xanthomatosis, cerebrotendinous

Genetic Tests for Cerebrotendinous Xanthomatosis

Genetic tests related to Cerebrotendinous Xanthomatosis:

# Genetic test Affiliating Genes
1 Cholestanol Storage Disease 29 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

40
Brain, Eye, Lung, Bone, Heart, Skin, Spinal Cord

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 662)
# Title Authors PMID Year
1
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 61 56 6 24
2019602 1991
2
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. 61 56 6 54
16278884 2005
3
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. 61 56 24
11804206 2001
4
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27). 24 56 61
11486904 2001
5
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. 61 24 56
10430841 1999
6
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. 56 24 61
7847220 1994
7
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. 61 24 6
8514861 1993
8
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. 61 24 56
1951610 1991
9
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. 56 24 61
6504105 1984
10
Familial cerebrotendinous xanthomatosis. Report of a new family and review of the literature. 56 24 61
1124985 1975
11
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. 61 24 56
5355255 1969
12
Cerebrotendinous xanthomatosis. Clinical and pathological studies. 56 24 61
5652996 1968
13
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 56 54 61
18227423 2008
14
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis. 54 6 61
10519880 1999
15
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. 61 6 54
9790667 1998
16
Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 6 54 61
9186905 1997
17
Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. 24 54 61
17444890 2007
18
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. 24 61 54
16816916 2006
19
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. 24 61 54
16157755 2005
20
Cerebrotendinous Xanthomatosis 6 61
20301583 2003
21
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. 56 61
12555943 2002
22
Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. 56 61
11939886 2002
23
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 6 61
12000359 2002
24
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). 54 61 24
8614539 1996
25
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. 24 61 54
7977352 1994
26
Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. 61 56
7964884 1994
27
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 61 6
7915755 1994
28
Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands. 56 61
3128689 1988
29
Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid. 56 61
3106810 1987
30
Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis. 61 56
3745434 1986
31
Detection of carriers of cerebrotendinous xanthomatosis. 61 56
3742821 1986
32
Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis. 61 56
4053393 1985
33
Peripheral neuropathy in cerebrotendinous xanthomatosis. 56 61
2994606 1985
34
Study of a family with Cerebrotendinous Xanthomatosis. No HLA linkage, but an informative recombination between HLA-B and Bf. 61 56
6574616 1983
35
Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study. 61 56
6848555 1983
36
Abnormal high density lipoproteins in cerebrotendinous xanthomatosis. 56 61
7298854 1981
37
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. 61 56
7258222 1981
38
Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. 61 56
7315872 1981
39
Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. 61 56
7410549 1980
40
Peripheral neuropathy in cerebrotendinous xanthomatosis. 56 61
221858 1979
41
A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. 61 56
4825231 1974
42
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. 61 56
5134895 1971
43
Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. 61 56
5676919 1968
44
Cerebrotendinous xanthomatosis. 56 61
4868195 1968
45
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. 24 61
25567502 2015
46
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. 61 24
24442603 2014
47
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report. 24 61
24529221 2014
48
Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. 24 61
23673909 2013
49
Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. 61 24
23375591 2013
50
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. 24 61
23212544 2013

Variations for Cerebrotendinous Xanthomatosis

ClinVar genetic disease variations for Cerebrotendinous Xanthomatosis:

6 (show top 50) (show all 202) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP27A1 NM_000784.4(CYP27A1):c.1185-1G>ASNV Pathogenic 500370 rs587778779 2:219679102-219679102 2:218814379-218814379
2 CYP27A1 NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)SNV Pathogenic 502269 rs575064188 2:219677688-219677688 2:218812965-218812965
3 CYP27A1 NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs)indel Pathogenic 575859 rs1559392331 2:219677004-219677005 2:218812281-218812282
4 CYP27A1 NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)deletion Pathogenic 642850 2:219678788-219678788 2:218814065-218814065
5 CYP27A1 NC_000002.12:g.(?_218809567)_(218809777_?)deldeletion Pathogenic 832296 2:219674290-219674500
6 CYP27A1 NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)SNV Pathogenic 801897 2:219677060-219677060 2:218812337-218812337
7 CYP27A1 NM_000784.4(CYP27A1):c.845-1G>ASNV Pathogenic 4256 rs397515353 2:219677646-219677646 2:218812923-218812923
8 CYP27A1 NM_000784.4(CYP27A1):c.844+1G>ASNV Pathogenic 4257 rs397515354 2:219677473-219677473 2:218812750-218812750
9 CYP27A1 NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)SNV Pathogenic 4258 rs121908097 2:219679425-219679425 2:218814702-218814702
10 CYP27A1 NM_000784.4(CYP27A1):c.1263+1G>ASNV Pathogenic 4262 rs397515355 2:219679182-219679182 2:218814459-218814459
11 CYP27A1 NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)SNV Pathogenic 4264 rs72551313 2:219674478-219674478 2:218809755-218809755
12 NM_000784.3:c.1180-1181delCTdeletion Pathogenic 65832
13 CYP27A1 NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)SNV Pathogenic 65825 rs200553205 2:219677819-219677819 2:218813096-218813096
14 CYP27A1 NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)SNV Pathogenic 65827 rs72551320 2:219678787-219678787 2:218814064-218814064
15 NM_000784.3:c.10_11 ins10bpinsertion Pathogenic 65828
16 NM_000784.3:c.1146_1151delinsinsertion Pathogenic 65830
17 CYP27A1 NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)SNV Pathogenic 65838 rs573951598 2:219679131-219679131 2:218814408-218814408
18 CYP27A1 NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)SNV Pathogenic 65839 rs587778782 2:219679140-219679140 2:218814417-218814417
19 CYP27A1 NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)SNV Pathogenic 65840 rs587778783 2:219679156-219679156 2:218814433-218814433
20 CYP27A1 NM_000784.4(CYP27A1):c.1263+5G>TSNV Pathogenic 65841 rs587778784 2:219679186-219679186 2:218814463-218814463
21 NM_000784.3:c.1263+81_1596+?deldeletion Pathogenic 65842
22 CYP27A1 NM_000784.4(CYP27A1):c.1264-1G>ASNV Pathogenic 65844 rs587778785 2:219679267-219679267 2:218814544-218814544
23 NM_000784.3:c.1323C>TSNV Pathogenic 65847
24 NM_000784.3:c.1330-1333delTTCCdeletion Pathogenic 65848
25 CYP27A1 NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)SNV Pathogenic 65850 rs587778787 2:219679406-219679406 2:218814683-218814683
26 CYP27A1 NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)SNV Pathogenic 65851 rs200883871 2:219679419-219679419 2:218814696-218814696
27 CYP27A1 NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)SNV Pathogenic 65891 rs72551315 2:219677319-219677319 2:218812596-218812596
28 CYP27A1 NM_000784.4(CYP27A1):c.305del (p.Pro102fs)deletion Pathogenic 65856 rs587778790 2:219674348-219674348 2:218809625-218809625
29 CYP27A1 NM_000784.4(CYP27A1):c.355del (p.Arg119fs)deletion Pathogenic 65861 rs587778793 2:219674399-219674399 2:218809676-218809676
30 CYP27A1 NM_000784.4(CYP27A1):c.1184+1G>ASNV Pathogenic 65833 rs587778777 2:219678911-219678911 2:218814188-218814188
31 CYP27A1 NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)deletion Pathogenic 65864 rs587778794 2:219674412-219674418 2:218809689-218809695
32 CYP27A1 NM_000784.4(CYP27A1):c.1185-1G>TSNV Pathogenic 65835 rs587778779 2:219679102-219679102 2:218814379-218814379
33 CYP27A1 NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)SNV Pathogenic 65836 rs587778780 2:219679120-219679120 2:218814397-218814397
34 CYP27A1 NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)SNV Pathogenic 65868 rs587778795 2:219674477-219674477 2:218809754-218809754
35 CYP27A1 NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)SNV Pathogenic 65878 rs587778800 2:219677081-219677081 2:218812358-218812358
36 NM_000784.3:c.599C>TSNV Pathogenic 65881
37 CYP27A1 NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)duplication Pathogenic 65882 rs587778802 2:219646909-219646910 2:218782186-218782187
38 CYP27A1 NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)SNV Pathogenic 65885 rs201346271 2:219677144-219677144 2:218812421-218812421
39 CYP27A1 NM_000784.4(CYP27A1):c.647-1G>TSNV Pathogenic 65886 rs587778804 2:219677274-219677274 2:218812551-218812551
40 CYP27A1 NM_000784.4(CYP27A1):c.73del (p.Ala25fs)deletion Pathogenic 65894 rs587778807 2:219646975-219646975 2:218782252-218782252
41 CYP27A1 NM_000784.4(CYP27A1):c.446+1G>ASNV Pathogenic 65871 rs587778797 2:219674491-219674491 2:218809768-218809768
42 CYP27A1 NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)SNV Pathogenic 65896 rs587778808 2:219677380-219677380 2:218812657-218812657
43 CYP27A1 NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)SNV Pathogenic 65899 rs587778810 2:219677407-219677407 2:218812684-218812684
44 CYP27A1 NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)SNV Pathogenic 65902 rs72551318 2:219677436-219677436 2:218812713-218812713
45 CYP27A1 NM_000784.4(CYP27A1):c.819del (p.Asp273fs)deletion Pathogenic 65903 rs587778812 2:219677447-219677447 2:218812724-218812724
46 CYP27A1 NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)SNV Pathogenic 65907 rs72551319 2:219677652-219677652 2:218812929-218812929
47 CYP27A1 NM_000784.4(CYP27A1):c.863del (p.Glu288fs)deletion Pathogenic 65910 rs587778815 2:219677665-219677665 2:218812942-218812942
48 CYP27A1 NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)SNV Pathogenic 65999 rs1160640803 2:219674443-219674443 2:218809720-218809720
49 CYP27A1 NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)SNV Pathogenic/Likely pathogenic 65873 rs72551314 2:219676973-219676973 2:218812250-218812250
50 CYP27A1 NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)SNV Pathogenic/Likely pathogenic 65865 rs201114717 2:219674423-219674423 2:218809700-218809700

UniProtKB/Swiss-Prot genetic disease variations for Cerebrotendinous Xanthomatosis:

73
# Symbol AA change Variation ID SNP ID
1 CYP27A1 p.Arg395Cys VAR_001303 rs121908096
2 CYP27A1 p.Arg479Cys VAR_001304 rs72551322
3 CYP27A1 p.Arg395Ser VAR_012285 rs121908096
4 CYP27A1 p.Arg405Gln VAR_012286 rs121908099
5 CYP27A1 p.Arg474Gln VAR_012287 rs121908097
6 CYP27A1 p.Arg474Trp VAR_012288 rs121908098
7 CYP27A1 p.Gly145Glu VAR_016966 rs72551313

Expression for Cerebrotendinous Xanthomatosis

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for Cerebrotendinous Xanthomatosis

Pathways related to Cerebrotendinous Xanthomatosis according to KEGG:

36
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 PPAR signaling pathway hsa03320

Pathways related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SP1 NR1H4 NR1H3 NR1H2 HSD3B7 HMGCR
2
Show member pathways
12.92 NR1H4 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4
3
Show member pathways
11.88 NR1H4 HSD3B7 CYP7B1 CYP7A1 CYP46A1 CYP27A1
4
Show member pathways
11.82 HMGCR CYP7A1 CYP27A1
5 11.66 NR1H4 HMGCR CYP7A1 CYP3A4
6 11.61 NR1H3 CYP7A1 CYP27A1
7
Show member pathways
11.61 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
8 11.56 SP1 NR1H2 HMGCR
9
Show member pathways
11.51 CYP7B1 CYP7A1 CYP3A4
10 11.31 CYP3A4 CYP27B1 CALCA
11 11.19 NR1I2 HMGCR CYP3A4
12 10.85 NR1H3 HMGCR
13 10.82 NR1H4 CYP7A1 CYP3A4
14 10.73 NR1I2 CYP3A4
15 10.64 NR1I2 NR1H4 NR1H3 CYP7A1 CYP3A4 CYP27B1
16 10.54 CYP27B1 CYP27A1
17 10.49 NR1I2 NR1H4 CYP7A1 CYP3A4
18 10.4 SP1 HNF4A

GO Terms for Cerebrotendinous Xanthomatosis

Cellular components related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 HSD3B7 HMGCR CYP7B1 CYP7A1 CYP46A1 CYP3A4
2 nuclear chromatin GO:0000790 9.73 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
3 organelle membrane GO:0031090 9.46 CYP7B1 CYP7A1 CYP46A1 CYP3A4
4 costamere GO:0043034 9.37 VCL FLNC
5 RNA polymerase II transcription factor complex GO:0090575 9.26 NR1I2 NR1H4 NR1H3 NR1H2
6 host cell nucleus GO:0042025 9.02 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A

Biological processes related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.13 HSD3B7 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1
2 positive regulation of transcription, DNA-templated GO:0045893 10.06 SP1 NR1I2 NR1H3 NR1H2 HNF4A
3 negative regulation of transcription, DNA-templated GO:0045892 10.05 NR1I2 NR1H3 NR1H2 HNF4A CALCA
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.93 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
5 cellular response to lipopolysaccharide GO:0071222 9.91 NR1I2 NR1H4 NR1H3 NR1H2
6 xenobiotic metabolic process GO:0006805 9.85 NR1I2 HNF4A CYP46A1 CYP3A4
7 steroid hormone mediated signaling pathway GO:0043401 9.85 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
8 lipid homeostasis GO:0055088 9.83 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
9 regulation of lipid metabolic process GO:0019216 9.82 HNF4A HMGCR CYP7A1
10 response to lipid GO:0033993 9.81 NR1I2 NR1H4 NR1H3 NR1H2
11 bile acid biosynthetic process GO:0006699 9.8 HSD3B7 CYP7B1 CYP7A1 CYP46A1 CYP27A1
12 steroid biosynthetic process GO:0006694 9.8 HSD3B7 HMGCR FDX1 CYP7B1 CYP3A4 CYP27A1
13 cholesterol homeostasis GO:0042632 9.8 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A CYP7B1
14 sterol metabolic process GO:0016125 9.77 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP27A1
15 intracellular receptor signaling pathway GO:0030522 9.74 NR1I2 NR1H4 NR1H3
16 triglyceride homeostasis GO:0070328 9.73 NR1H4 NR1H3 HNF4A
17 cholesterol catabolic process GO:0006707 9.7 CYP7A1 CYP46A1 CYP27A1
18 cholesterol metabolic process GO:0008203 9.7 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4
19 calcitriol biosynthetic process from calciol GO:0036378 9.67 CYP3A4 CYP27B1 CYP27A1
20 positive regulation of cholesterol efflux GO:0010875 9.66 NR1H3 NR1H2
21 positive regulation of cellular protein metabolic process GO:0032270 9.66 NR1H3 NR1H2
22 positive regulation of fatty acid biosynthetic process GO:0045723 9.65 NR1H3 NR1H2
23 positive regulation of triglyceride biosynthetic process GO:0010867 9.65 NR1H3 NR1H2
24 vitamin D metabolic process GO:0042359 9.64 CYP3A4 CYP27B1
25 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.63 NR1H3 NR1H2
26 positive regulation of lipoprotein lipase activity GO:0051006 9.63 NR1H3 NR1H2
27 negative regulation of cholesterol storage GO:0010887 9.62 NR1H3 NR1H2
28 negative regulation of interferon-gamma-mediated signaling pathway GO:0060336 9.62 NR1H3 NR1H2
29 B cell chemotaxis GO:0035754 9.61 HSD3B7 CYP7B1
30 regulation of bile acid biosynthetic process GO:0070857 9.6 NR1H4 CYP7A1
31 positive regulation of cholesterol transport GO:0032376 9.59 NR1H3 NR1H2
32 negative regulation of pinocytosis GO:0048550 9.58 NR1H3 NR1H2
33 negative regulation of lipid transport GO:0032369 9.58 NR1H3 NR1H2
34 steroid metabolic process GO:0008202 9.56 NR1I2 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1
35 lipid metabolic process GO:0006629 9.44 TTPA NR1I2 NR1H4 NR1H3 NR1H2 HNF4A

Molecular functions related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.3 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
2 DNA-binding transcription factor activity GO:0003700 10.07 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.06 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
4 sequence-specific DNA binding GO:0043565 10.04 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
5 oxidoreductase activity GO:0016491 10.03 HSD3B7 HMGCR CYP7B1 CYP7A1 CYP46A1 CYP3A4
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.01 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10 SP1 NR1H4 NR1H3 NR1H2 HNF4A
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 10 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
9 transcription regulatory region sequence-specific DNA binding GO:0000976 9.97 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
10 transcription factor binding GO:0008134 9.96 SP1 NR1I2 NR1H4 NR1H3 NR1H2
11 signaling receptor activity GO:0038023 9.88 NR1I2 NR1H4 NR1H3 NR1H2
12 heme binding GO:0020037 9.85 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
13 nuclear receptor transcription coactivator activity GO:0030374 9.81 NR1I2 NR1H4 NR1H3 NR1H2
14 nuclear receptor activity GO:0004879 9.78 NR1I2 NR1H4 NR1H3 NR1H2
15 monooxygenase activity GO:0004497 9.73 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
16 steroid hormone receptor activity GO:0003707 9.72 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
17 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.71 NR1I2 NR1H4 NR1H3 NR1H2
18 retinoid X receptor binding GO:0046965 9.6 NR1H4 NR1H2
19 vitamin D3 25-hydroxylase activity GO:0030343 9.55 CYP3A4 CYP27A1
20 steroid hydroxylase activity GO:0008395 9.55 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27A1
21 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
22 iron ion binding GO:0005506 9.17 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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