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 58 12 25 54 26 60 76 38 13 15
Ctx 58 54 26 60 76
Cholestanol Storage Disease 12 26 30 6
Cerebral Cholesterinosis 58 54 26 76
Xanthomatosis, Cerebrotendinous 45 41 74
Sterol 27-Hydroxylase Deficiency 54 60
Xanthomatosis Cerebrotendinous 77 56
Van Bogaert-Scherer-Epstein Disease 26
Cerebrotendinous Cholesterinosis 26
Cholestanolosis 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 58 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 (143890) and sitosterolemia (210250). (213700)

MalaCards based summary : Cerebrotendinous Xanthomatosis, also known as ctx, is related to xanthomatosis and sitosterolemia, and has symptoms including angina pectoris, cerebellar ataxia and muscle spasticity. 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are intellectual disability and cataract

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.

Genetics Home Reference : 26 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).

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 77 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... 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 137)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 31.6 CYP27A1 CYP7A1 HMGCR NR1I2
2 sitosterolemia 30.0 HMGCR CYP7A1 CYP27A1
3 cholestasis 29.7 NR1H4 CYP7A1 NR1I2
4 hypercholesterolemia, familial 29.7 CYP7A1 HMGCR NR1H4
5 leukodystrophy 11.7
6 congenital toxoplasmosis 11.3
7 cholera 10.6
8 neuropathy 10.5
9 keratoconus posticus circumscriptus 10.5
10 cataract 10.4
11 osteoporosis 10.4
12 dementia 10.4
13 diarrhea 10.4
14 polyneuropathy 10.4
15 osteoarthritis 10.4
16 acute cystitis 10.4
17 osteonecrosis 10.3
18 epilepsy 10.3
19 dystonia 10.3
20 peripheral nervous system disease 10.3
21 lipid storage disease 10.3
22 arteries, anomalies of 10.2
23 coronary artery anomaly 10.2
24 liver disease 10.2
25 oromandibular dystonia 10.2
26 degos 'en cocarde' erythrokeratoderma 10.2
27 depression 10.2
28 pneumonia 10.2
29 mastitis 10.1
30 klebsiella pneumonia 10.1
31 bile acid synthesis defect, congenital, 3 10.1 NR1H4 CYP27A1
32 aortic aneurysm, familial abdominal, 1 10.1
33 multiple sclerosis 10.1
34 marfan syndrome 10.1
35 autism 10.1
36 smith-lemli-opitz syndrome 10.1
37 lysosomal acid lipase deficiency 10.1
38 opitz gbbb syndrome, type i 10.1
39 aceruloplasminemia 10.1
40 langerhans cell histiocytosis 10.1
41 lymphangioleiomyomatosis 10.1
42 coronary heart disease 1 10.1
43 myocardial infarction 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 acute myocardial infarction 10.1
46 hepatitis 10.1
47 nephrolithiasis 10.1
48 thrombocytopenia 10.1
49 autism spectrum disorder 10.1
50 tabes dorsalis 10.1

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:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
3 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
4 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
5 xanthelasma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001114
6 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
7 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
8 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
11 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
12 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
13 hallucinations 60 33 frequent (33%) Frequent (79-30%) HP:0000738
14 myocardial infarction 60 33 frequent (33%) Frequent (79-30%) HP:0001658
15 angina pectoris 60 33 frequent (33%) Frequent (79-30%) HP:0001681
16 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
17 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
18 hypercholesterolemia 60 33 frequent (33%) Frequent (79-30%) HP:0003124
19 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
20 atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0002621
21 abnormality of the periventricular white matter 60 33 frequent (33%) Frequent (79-30%) HP:0002518
22 abnormal pyramidal sign 33 frequent (33%) HP:0007256
23 joint dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001373
24 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
25 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
26 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
27 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
28 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
29 cholestasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001396
30 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000787
31 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
32 ataxia 33 HP:0001251
33 respiratory insufficiency 33 HP:0002093
34 abnormal pyramidal signs 60 Frequent (79-30%)
35 behavioral abnormality 60 Frequent (79-30%)
36 abnormality of the eye 60 Very frequent (99-80%)
37 osteoporosis 33 HP:0000939
38 cholelithiasis 33 HP:0001081
39 dementia 33 HP:0000726
40 optic disc pallor 33 HP:0000543
41 cerebellar atrophy 33 HP:0001272
42 abnormality of cholesterol metabolism 60 Frequent (79-30%)
43 cerebral atrophy 33 HP:0002059
44 xanthomatosis 60 Very frequent (99-80%)
45 delusions 33 HP:0000746
46 eeg with generalized slow activity 33 HP:0010845
47 pseudobulbar paralysis 33 HP:0007024
48 tendon xanthomatosis 33 HP:0010874
49 emg: axonal abnormality 33 HP:0003482
50 abnormality of the dentate nucleus 33 HP:0100321

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dementia
pseudobulbar paralysis
mental retardation
cerebellar ataxia
more
Skeletal:
osteoporosis

Neurologic Peripheral Nervous System:
peripheral neuropathy

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

Respiratory Lung:
respiratory insufficiency

Cardiovascular Heart:
myocardial infarction
angina

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, cerebellar ataxia, muscle spasticity

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 FLNC HMGCR NR1H3 NR1H4 VCL

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CYP27A1 CYP7A1 FLNC HMGCR NR1H3 NR1H4
2 cardiovascular system MP:0005385 9.65 CYP27A1 FLNC NR1H3 NR1H4 VCL
3 liver/biliary system MP:0005370 9.43 CYP27A1 CYP7A1 HMGCR NR1H3 NR1H4 NR1I2
4 mortality/aging MP:0010768 9.23 CYP7A1 FDX1 FLNC HMGCR NR1H3 NR1H4

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Not Applicable 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3,Phase 3 67-97-0 5280795 6221
4
Calcium Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 7440-70-2 271
5 Calciferol Phase 2, Phase 3,Not Applicable
6 Bone Density Conservation Agents Phase 2, Phase 3,Not Applicable
7 Ergocalciferols Phase 2, Phase 3,Not Applicable
8 Vitamin D2 Phase 2, Phase 3,Not Applicable
9 Hormones Phase 2, Phase 3,Not Applicable
10 Nutrients Phase 2, Phase 3,Not Applicable
11 Trace Elements Phase 2, Phase 3,Not Applicable
12 Vitamins Phase 2, Phase 3,Not Applicable
13 Micronutrients Phase 2, Phase 3,Not Applicable
14 Calcium, Dietary Phase 2, Phase 3,Not Applicable
15
chenodeoxycholic acid Approved Phase 2,Not Applicable 474-25-9 10133
16
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
17 Cathartics Phase 2,Not Applicable
18 Gastrointestinal Agents Phase 2,Not Applicable
19 L 647318 Phase 2
20 Dihydromevinolin Phase 2
21 Lipid Regulating Agents Phase 2
22 Laxatives Phase 2,Not Applicable
23 Anticholesteremic Agents Phase 2
24 Hypolipidemic Agents Phase 2
25 Antimetabolites Phase 2
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
27
Calcifediol Approved, Nutraceutical Not Applicable 19356-17-3 5283731 6433735

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
2 Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis 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 The Role of Narrowband Ultraviolet B Exposure in the Maintenance of Vitamin D Levels During Winter Completed NCT02275650 Not Applicable
5 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Completed NCT02437578
6 Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis Completed NCT02893605
7 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
8 The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
9 Cholestanol in Humans Withdrawn NCT00018694 Not Applicable 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 30 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

42
Brain, Bone, Lung, Eye, Heart, Spinal Cord, Testes

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 1606)
# Title Authors Year
1
Bacteriuria With CTX-M-8 Extended-Spectrum β-Lactamase-Producing Escherichia coli in a Patient With Incomplete Kawasaki Disease. ( 30671497 )
2019
2
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. ( 30804055 )
2019
3
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. ( 30891321 )
2019
4
Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia: A Cross-Sectional Controlled Study. ( 30710161 )
2019
5
The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China. ( 30635000 )
2019
6
CTX-II and YKL-40 in early diagnosis and treatment evaluation of osteoarthritis. ( 30651816 )
2019
7
A dual-label time-resolved fluorescence immunoassay for screening of osteoporosis based on simultaneous detection of C-terminal telopeptide (β-CTX) and aminoterminal propeptide (P1NP) of type I procollagen. ( 30638079 )
2019
8
Emergence and molecular characterization of multidrug-resistant Klebsiella pneumoniae isolates harboring blaCTX-M-15 extended-spectrum β-lactamases causing ventilator-associated pneumonia in China. ( 30588046 )
2019
9
Monitoring the Disulfide Bonds of Folding Isomers of Synthetic CTX A3 Polypeptide Using MS-Based Technology. ( 30658470 )
2019
10
Imported infection by CTX-M-15 extended-spectrum beta-lactamase-producing Shigella sonnei. ( 29691072 )
2019
11
CTX-M-55-type ESBL-producing Salmonella enterica are emerging among retail meats in Phnom Penh, Cambodia. ( 30376113 )
2019
12
Emergence of a Multidrug-Resistant Hypervirulent Klebsiella pneumoniae Sequence Type 23 Strain with a Rare blaCTX-M-24-Harboring Virulence Plasmid. ( 30602516 )
2019
13
Combination of ribosome display and next generation sequencing as a powerful method for identification of affibody binders against β-lactamase CTX-M15. ( 30634000 )
2019
14
ESBL-producing Enterobacteriaceae from animal origins and wastewater in Tunisia: first detection of O25b-B23-CTX-M-27-ST131 Escherichia coli and CTX-M-15-OXA-204-producing Citrobacter freundii from wastewater. ( 30639890 )
2019
15
Virulence and genomic features of a blaCTX-M-3 and blaCTX-M-14 coharboring hypermucoviscous Klebsiella pneumoniae of serotype K2 and ST65. ( 30655681 )
2019
16
Collateral sensitivity constrains resistance evolution of the CTX-M-15 β-lactamase. ( 30728359 )
2019
17
Comparison of BALP, CTX-I, and IL-4 levels around miniscrew implants during orthodontic tooth movement between two different amounts of force. ( 30730198 )
2019
18
The Clinical and Molecular Epidemiology of CTX-M-9 Group Producing Enterobacteriaceae Infections in Children. ( 30772921 )
2019
19
Detection of O25b-ST131 clone, CTX-M-1 and CTX-M-15 genes via real-time PCR in Escherichia coli strains in patients with UTIs obtained from a university hospital in Istanbul. ( 30826300 )
2019
20
Genetic background of CTX-M-15-producing Enterobacter hormaechei ST114 and Citrobacter freundii ST265 co-infecting a free-living green turtle (Chelonia mydas). ( 30843359 )
2019
21
High prevalence of CTX-M belonging to ST410 and ST889 among ESBL producing E. coli isolates from waterfowl birds in China's tropical island, Hainan. ( 30853356 )
2019
22
Draft genome sequence of a multidrug-resistant CTX-M-65-producing Escherichia coli ST156 colonizing a giant anteater (Myrmecophaga tridactyla) in a Zoo. ( 30877057 )
2019
23
High rates of CTX-M group-1 extended-spectrum β-lactamases producing Escherichia coli from pets and their owners in Faisalabad, Pakistan. ( 30881062 )
2019
24
Cerebrotendinous xanthomatosis: The diagnostic challenge. ( 29980286 )
2018
25
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. ( 29560583 )
2018
26
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease. ( 29796951 )
2018
27
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
28
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. ( 29484516 )
2018
29
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
30
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
31
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. ( 29599059 )
2018
32
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
33
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
34
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. ( 29731275 )
2018
35
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline. ( 29737592 )
2018
36
Failure of Ciprofloxacin Therapy in the Treatment of Community-Acquired Acute Pyelonephritis caused by In-Vitro Susceptible Escherichia coli Strain Producing CTX-Type Extended-Spectrum β-Lactamase. ( 30600660 )
2018
37
The combination of urinary CTX-II and serum CS-846: Promising biochemical markers to predict radiographic progression of haemophilic arthropathy-An exploratory study. ( 30044054 )
2018
38
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. ( 30017468 )
2018
39
Movement disorders in cerebrotendinous xanthomatosis. ( 30054180 )
2018
40
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. ( 30135217 )
2018
41
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report. ( 30278298 )
2018
42
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. ( 30530794 )
2018
43
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. ( 30530799 )
2018
44
The frequency of Klebsiella pneumonia encoding genes for CTX-M, TEM-1 and SHV-1 extended-spectrum beta lactamases enzymes isolated from urinary tract infection. ( 29433582 )
2018
45
Investigation for the role of CTX-III and microRNA-98 in diagnosis and treatment of osteoarthritis. ( 30229812 )
2018
46
Genomic features of a multidrug-resistant Enterobacter cloacae ST279 producing CTX-M-15 and AAC(6')-Ib-cr isolated from fatal infectious stomatitis in a crossed pit viper (Bothrops alternatus). ( 30448520 )
2018
47
Development of an LC-MS/MS method to simultaneously monitor maitotoxins and selected ciguatoxins in algal cultures and P-CTX-1B in fish. ( 30502815 )
2018
48
CTX-M ESBL-producing Enterobacteriaceae: estimated prevalence in adults in England in 2014. ( 29514211 )
2018
49
Whole Genome Sequence Analysis of CTX-M-15 Producing Klebsiella Isolates Allowed Dissecting a Polyclonal Outbreak Scenario. ( 29527200 )
2018
50
Structural and Mechanistic Basis for Extended-Spectrum Drug-Resistance Mutations in Altering the Specificity of TEM, CTX-M, and KPC β-lactamases. ( 29527530 )
2018

Variations for Cerebrotendinous Xanthomatosis

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

76
# 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

ClinVar genetic disease variations for Cerebrotendinous Xanthomatosis:

6 (show top 50) (show all 268)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199891090 GRCh37 Chromosome 2, 219646900: 219646900
2 CYP27A1 NM_000784.3(CYP27A1): c.-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199891090 GRCh38 Chromosome 2, 218782177: 218782177
3 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
4 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
5 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
6 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
7 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh37 Chromosome 2, 219677646: 219677646
8 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh38 Chromosome 2, 218812923: 218812923
9 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh37 Chromosome 2, 219677473: 219677473
10 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh38 Chromosome 2, 218812750: 218812750
11 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh37 Chromosome 2, 219679425: 219679425
12 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh38 Chromosome 2, 218814702: 218814702
13 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Likely pathogenic rs121908098 GRCh37 Chromosome 2, 219679424: 219679424
14 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Likely pathogenic rs121908098 GRCh38 Chromosome 2, 218814701: 218814701
15 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh37 Chromosome 2, 219679132: 219679132
16 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh38 Chromosome 2, 218814409: 218814409
17 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Uncertain significance rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
18 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Uncertain significance rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
19 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh37 Chromosome 2, 219679182: 219679182
20 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh38 Chromosome 2, 218814459: 218814459
21 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh37 Chromosome 2, 219674478: 219674478
22 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh38 Chromosome 2, 218809755: 218809755
23 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic/Likely pathogenic rs397515356 GRCh37 Chromosome 2, 219677746: 219677750
24 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic/Likely pathogenic rs397515356 GRCh38 Chromosome 2, 218813023: 218813027
25 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh37 Chromosome 2, 219677818: 219677818
26 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh38 Chromosome 2, 218813095: 218813095
27 CYP27A1 NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
28 CYP27A1 NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
29 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh37 Chromosome 2, 219679378: 219679378
30 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh38 Chromosome 2, 218814655: 218814655
31 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh37 Chromosome 2, 219647148: 219647148
32 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh38 Chromosome 2, 218782425: 218782425
33 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh37 Chromosome 2, 219677684: 219677684
34 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh38 Chromosome 2, 218812961: 218812961
35 CYP27A1 NM_000784.3(CYP27A1): c.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh37 Chromosome 2, 219677690: 219677690
36 CYP27A1 NM_000784.3(CYP27A1): c.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh38 Chromosome 2, 218812967: 218812967
37 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
38 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh38 Chromosome 2, 218813096: 218813096
39 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
40 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh38 Chromosome 2, 218814064: 218814064
41 NM_000784.3: c.10_11 ins10bp insertion Pathogenic
42 NM_000784.3: c.1146_1151delins insertion Pathogenic
43 CYP27A1 NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41272687 GRCh37 Chromosome 2, 219678877: 219678877
44 CYP27A1 NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41272687 GRCh38 Chromosome 2, 218814154: 218814154
45 NM_000784.3: c.1180-1181delCT deletion Pathogenic
46 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh37 Chromosome 2, 219678911: 219678911
47 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh38 Chromosome 2, 218814188: 218814188
48 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Conflicting interpretations of pathogenicity rs587778778 GRCh37 Chromosome 2, 219678910: 219678910
49 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Conflicting interpretations of pathogenicity rs587778778 GRCh38 Chromosome 2, 218814187: 218814187
50 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102

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:

38
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 CYP27A1 CYP7A1 FDX1 NR1H4
2
Show member pathways
11.88 CYP27A1 CYP7A1 NR1H4
3
Show member pathways
11.62 CYP27A1 CYP7A1 HMGCR
4
Show member pathways
11.45 NR1H3 NR1H4 NR1I2
5 11.3 CYP27A1 CYP7A1 NR1H3
6 11.19 CYP7A1 HMGCR NR1H4
7 11.05 HMGCR NR1I2
8 10.89 CYP7A1 NR1H3
9 10.71 CYP7A1 NR1H4
10 10.68 HMGCR NR1H3
11 10.47 CYP7A1 NR1H3 NR1H4 NR1I2
12 10.36 CYP7A1 NR1H4 NR1I2

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 costamere GO:0043034 8.96 FLNC VCL
2 RNA polymerase II transcription factor complex GO:0090575 8.8 NR1H3 NR1H4 NR1I2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 CYP27A1 CYP7A1 FDX1 HMGCR
2 lipid metabolic process GO:0006629 9.65 CYP7A1 FDX1 HMGCR NR1H3 NR1H4
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.63 NR1H3 NR1H4 NR1I2
4 cholesterol homeostasis GO:0042632 9.61 CYP7A1 NR1H3 NR1H4
5 cholesterol metabolic process GO:0008203 9.58 CYP7A1 FDX1 HMGCR
6 steroid biosynthetic process GO:0006694 9.54 FDX1 HMGCR
7 lipid homeostasis GO:0055088 9.52 NR1H3 NR1H4
8 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1H3 NR1H4 NR1I2
9 triglyceride homeostasis GO:0070328 9.49 NR1H3 NR1H4
10 bile acid biosynthetic process GO:0006699 9.48 CYP27A1 CYP7A1
11 regulation of bile acid biosynthetic process GO:0070857 9.37 CYP7A1 NR1H4
12 intracellular receptor signaling pathway GO:0030522 9.33 NR1H3 NR1H4 NR1I2
13 sterol metabolic process GO:0016125 9.13 CYP27A1 CYP7A1 FDX1
14 steroid metabolic process GO:0008202 8.92 CYP7A1 FDX1 HMGCR NR1I2

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.63 NR1H3 NR1H4 NR1I2
2 transcription coactivator activity GO:0003713 9.61 NR1H3 NR1H4 NR1I2
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 NR1H3 NR1H4 NR1I2
4 signaling receptor activity GO:0038023 9.54 NR1H3 NR1H4 NR1I2
5 iron ion binding GO:0005506 9.5 CYP27A1 CYP7A1 FDX1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.48 CYP27A1 CYP7A1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 NR1H3 NR1H4 NR1I2
8 nuclear receptor transcription coactivator activity GO:0030374 9.33 NR1H3 NR1H4 NR1I2
9 steroid hormone receptor activity GO:0003707 9.13 NR1H3 NR1H4 NR1I2
10 nuclear receptor activity GO:0004879 8.8 NR1H3 NR1H4 NR1I2

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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