MCID: CRB011
MIFTS: 63

Cerebrotendinous Xanthomatosis

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

Aliases & Classifications for Cerebrotendinous Xanthomatosis

MalaCards integrated aliases for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 57 12 24 53 25 59 75 37 13 15
Ctx 57 53 25 59 75
Cholestanol Storage Disease 12 25 29 6
Cerebral Cholesterinosis 57 53 25 75
Xanthomatosis, Cerebrotendinous 44 40 73
Sterol 27-Hydroxylase Deficiency 53 59
Xanthomatosis Cerebrotendinous 76 55
Van Bogaert-Scherer-Epstein Disease 25
Cerebrotendinous Cholesterinosis 25
Cholestanolosis 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

32
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 57 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 joint dislocation and depressivity

UniProtKB/Swiss-Prot : 75 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

NIH Rare Diseases : 53 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.

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).

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.

Wikipedia : 76 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 70)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.9 CYP27A1 CYP7A1 HMGCR NR1H4 NR1I2
2 sitosterolemia 29.7 CYP7A1 HMGCR
3 cholestasis 28.9 CYP7A1 NR1H4 NR1I2
4 leukodystrophy 11.6
5 congenital toxoplasmosis 11.1
6 pneumonia 10.5
7 cataract 10.4
8 neuropathy 10.2
9 osteoporosis 10.2
10 dementia 10.2
11 diarrhea 10.2
12 polyneuropathy 10.2
13 hepatitis 10.1
14 epilepsy 10.1
15 cerebritis 10.1
16 dystonia 10.1
17 peripheral nervous system disease 10.1
18 lipid storage disease 10.1
19 arteries, anomalies of 10.0
20 aging 10.0
21 bone fracture 10.0
22 coronary artery anomaly 10.0
23 liver disease 10.0
24 oromandibular dystonia 10.0
25 depression 10.0
26 aneurysm 10.0
27 aortic aneurysm, familial abdominal, 1 9.9
28 multiple sclerosis 9.9
29 hypercholesterolemia, familial 9.9
30 marfan syndrome 9.9
31 autism 9.9
32 smith-lemli-opitz syndrome 9.9
33 lysosomal acid lipase deficiency 9.9
34 opitz gbbb syndrome, type i 9.9
35 aceruloplasminemia 9.9
36 langerhans cell histiocytosis 9.9
37 lymphangioleiomyomatosis 9.9
38 coronary heart disease 1 9.9
39 myocardial infarction 9.9
40 ataxia-oculomotor apraxia 3 9.9
41 alacrima, achalasia, and mental retardation syndrome 9.9
42 tendinitis 9.9
43 acute myocardial infarction 9.9
44 nephrolithiasis 9.9
45 thrombocytopenia 9.9
46 autism spectrum disorder 9.9
47 tabes dorsalis 9.9
48 rickets 9.9
49 heart disease 9.9
50 parametritis 9.9

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



Diseases related to Cerebrotendinous Xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cerebrotendinous Xanthomatosis:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
7 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
9 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
10 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
11 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
12 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
13 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
14 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
15 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
16 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
17 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
18 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
19 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
20 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
21 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
22 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
23 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
24 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
25 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
26 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
27 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
28 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
29 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
30 abnormality of cholesterol metabolism 59 32 Frequent (79-30%) HP:0003107
31 xanthelasma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001114
32 abnormality of the periventricular white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002518
33 ataxia 32 HP:0001251
34 respiratory insufficiency 32 HP:0002093
35 behavioral abnormality 59 Frequent (79-30%)
36 abnormality of the eye 59 Very frequent (99-80%)
37 osteoporosis 32 HP:0000939
38 cholelithiasis 32 HP:0001081
39 dementia 32 HP:0000726
40 cerebellar atrophy 32 HP:0001272
41 cerebral atrophy 32 HP:0002059
42 optic disc pallor 32 HP:0000543
43 xanthomatosis 59 Very frequent (99-80%)
44 delusions 32 HP:0000746
45 eeg with generalized slow activity 32 HP:0010845
46 pseudobulbar paralysis 32 HP:0007024
47 tendon xanthomatosis 32 HP:0010874
48 abnormality of the dentate nucleus 32 HP:0100321
49 emg 32 HP:0003482
50 abnormality of central somatosensory evoked potentials 32 HP:0100291

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, cerebellar ataxia, muscle spasticity

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CYP27B1 HMGCR NR1H3 NR1H4 VCL

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CYP27A1 CYP27B1 FDX1 NR1H3 NR1H4 VCL
2 homeostasis/metabolism MP:0005376 9.7 HMGCR NR1H3 NR1H4 NR1I2 CYP27A1 CYP27B1
3 liver/biliary system MP:0005370 9.43 CYP27A1 CYP7A1 HMGCR NR1H3 NR1H4 NR1I2
4 mortality/aging MP:0010768 9.17 CYP7A1 FDX1 HMGCR NR1H3 NR1H4 NR1I2

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 25)
# 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 6221 5280795
4 Bone Density Conservation Agents Phase 2, Phase 3,Not Applicable
5 Calcium, Dietary Phase 2, Phase 3
6 Ergocalciferols Phase 2, Phase 3,Not Applicable
7 Hormones Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3,Not Applicable
9 Trace Elements Phase 2, Phase 3,Not Applicable
10 Vitamins Phase 2, Phase 3,Not Applicable
11 Calciferol Nutraceutical Phase 2, Phase 3,Not Applicable
12 Vitamin D2 Nutraceutical Phase 2, Phase 3,Not Applicable
13
chenodeoxycholic acid Approved Phase 2,Not Applicable 474-25-9 10133
14
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
15 Anticholesteremic Agents Phase 2
16 Antimetabolites Phase 2
17 Cathartics Phase 2,Not Applicable
18 Dihydromevinolin Phase 2
19 Gastrointestinal Agents Phase 2,Not Applicable
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Hypolipidemic Agents Phase 2
22 L 647318 Phase 2
23 Laxatives Phase 2,Not Applicable
24 Lipid Regulating Agents Phase 2
25 Calcifediol Not Applicable 19356-17-3

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 Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis Completed NCT02893605
6 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
7 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Active, not recruiting NCT02437578
8 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 29 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

41
Brain, Bone, Lung, Eye, Heart, Spinal Cord, Liver

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 433)
# Title Authors Year
1
Cerebrotendinous xanthomatosis: The diagnostic challenge. ( 29980286 )
2018
2
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. ( 29560583 )
2018
3
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease. ( 29796951 )
2018
4
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
5
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. ( 29484516 )
2018
6
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
7
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
8
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. ( 29599059 )
2018
9
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
10
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
11
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. ( 29731275 )
2018
12
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline. ( 29737592 )
2018
13
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. ( 29079218 )
2017
14
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
15
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
16
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). ( 28980151 )
2017
17
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
18
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. ( 29058268 )
2017
19
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. ( 29095540 )
2017
20
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
21
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
22
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
23
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
24
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
25
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
26
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. ( 29242796 )
2017
27
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
28
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
29
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
30
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
31
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
32
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. ( 27680221 )
2016
33
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
34
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
35
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
36
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
37
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
38
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
39
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
40
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
41
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
42
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
43
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
44
[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom]. ( 27455001 )
2016
45
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
46
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
47
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
48
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. ( 25567502 )
2015
49
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. ( 26156051 )
2015
50
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015

Variations for Cerebrotendinous Xanthomatosis

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

75
# 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 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Likely pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
2 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Likely pathogenic rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
3 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
4 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
5 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh37 Chromosome 2, 219677646: 219677646
6 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh38 Chromosome 2, 218812923: 218812923
7 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh37 Chromosome 2, 219677473: 219677473
8 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh38 Chromosome 2, 218812750: 218812750
9 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh37 Chromosome 2, 219679425: 219679425
10 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh38 Chromosome 2, 218814702: 218814702
11 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Pathogenic rs121908098 GRCh37 Chromosome 2, 219679424: 219679424
12 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Pathogenic rs121908098 GRCh38 Chromosome 2, 218814701: 218814701
13 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh37 Chromosome 2, 219679132: 219679132
14 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh38 Chromosome 2, 218814409: 218814409
15 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
16 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Pathogenic rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
17 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh37 Chromosome 2, 219679182: 219679182
18 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh38 Chromosome 2, 218814459: 218814459
19 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh37 Chromosome 2, 219674478: 219674478
20 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh38 Chromosome 2, 218809755: 218809755
21 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic rs397515356 GRCh37 Chromosome 2, 219677746: 219677750
22 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic rs397515356 GRCh38 Chromosome 2, 218813023: 218813027
23 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh37 Chromosome 2, 219677818: 219677818
24 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh38 Chromosome 2, 218813095: 218813095
25 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
26 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh38 Chromosome 2, 218813096: 218813096
27 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
28 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh38 Chromosome 2, 218814064: 218814064
29 NM_000784.3: c.10_11 ins10bp insertion Pathogenic
30 NM_000784.3: c.1146_1151delins insertion Pathogenic
31 NM_000784.3: c.1180-1181delCT deletion Pathogenic
32 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh37 Chromosome 2, 219678911: 219678911
33 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh38 Chromosome 2, 218814188: 218814188
34 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Likely pathogenic rs587778778 GRCh37 Chromosome 2, 219678910: 219678910
35 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Likely pathogenic rs587778778 GRCh38 Chromosome 2, 218814187: 218814187
36 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102
37 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh38 Chromosome 2, 218814379: 218814379
38 CYP27A1 NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg) single nucleotide variant Pathogenic rs587778780 GRCh37 Chromosome 2, 219679120: 219679120
39 CYP27A1 NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg) single nucleotide variant Pathogenic rs587778780 GRCh38 Chromosome 2, 218814397: 218814397
40 CYP27A1 NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys) single nucleotide variant Pathogenic rs587778781 GRCh37 Chromosome 2, 219679127: 219679127
41 CYP27A1 NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys) single nucleotide variant Pathogenic rs587778781 GRCh38 Chromosome 2, 218814404: 218814404
42 CYP27A1 NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp) single nucleotide variant Pathogenic rs573951598 GRCh37 Chromosome 2, 219679131: 219679131
43 CYP27A1 NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp) single nucleotide variant Pathogenic rs573951598 GRCh38 Chromosome 2, 218814408: 218814408
44 CYP27A1 NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter) single nucleotide variant Pathogenic rs587778782 GRCh37 Chromosome 2, 219679140: 219679140
45 CYP27A1 NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter) single nucleotide variant Pathogenic rs587778782 GRCh38 Chromosome 2, 218814417: 218814417
46 CYP27A1 NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp) single nucleotide variant Pathogenic rs587778783 GRCh37 Chromosome 2, 219679156: 219679156
47 CYP27A1 NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp) single nucleotide variant Pathogenic rs587778783 GRCh38 Chromosome 2, 218814433: 218814433
48 CYP27A1 NM_000784.3(CYP27A1): c.1263+5G> T single nucleotide variant Pathogenic rs587778784 GRCh37 Chromosome 2, 219679186: 219679186
49 CYP27A1 NM_000784.3(CYP27A1): c.1263+5G> T single nucleotide variant Pathogenic rs587778784 GRCh38 Chromosome 2, 218814463: 218814463
50 NM_000784.3: c.1263+81_1596+?del deletion Pathogenic

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:

37
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR NR1H3
2
Show member pathways
12.83 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H4
3
Show member pathways
11.91 CYP27A1 CYP7A1 NR1H4
4
Show member pathways
11.65 CYP27A1 CYP7A1 HMGCR
5
Show member pathways
11.45 NR1H3 NR1H4 NR1I2
6 11.29 CYP27A1 CYP7A1 NR1H3
7 11.18 CYP7A1 HMGCR NR1H4
8 11.08 HMGCR NR1I2
9 10.93 CYP7A1 NR1H3
10 10.76 CYP7A1 NR1H4
11 10.74 HMGCR NR1H3
12 10.57 CYP27B1 CYP7A1 NR1H3 NR1H4 NR1I2
13 10.37 CYP27A1 CYP27B1
14 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 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 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.71 NR1H3 NR1H4 NR1I2
3 cellular response to lipopolysaccharide GO:0071222 9.69 NR1H3 NR1H4 NR1I2
4 cholesterol metabolic process GO:0008203 9.67 CYP7A1 FDX1 HMGCR
5 steroid hormone mediated signaling pathway GO:0043401 9.63 NR1H3 NR1H4 NR1I2
6 intracellular receptor signaling pathway GO:0030522 9.58 NR1H3 NR1H4 NR1I2
7 steroid biosynthetic process GO:0006694 9.57 FDX1 HMGCR
8 bile acid biosynthetic process GO:0006699 9.56 CYP27A1 CYP7A1
9 triglyceride homeostasis GO:0070328 9.55 NR1H3 NR1H4
10 lipid homeostasis GO:0055088 9.54 NR1H3 NR1H4 NR1I2
11 cellular lipid metabolic process GO:0044255 9.52 HMGCR NR1H3
12 response to lipid GO:0033993 9.5 NR1H3 NR1H4 NR1I2
13 steroid metabolic process GO:0008202 9.46 CYP7A1 FDX1 HMGCR NR1I2
14 regulation of bile acid biosynthetic process GO:0070857 9.43 CYP7A1 NR1H4
15 sterol metabolic process GO:0016125 9.43 CYP27A1 CYP7A1 FDX1
16 cholesterol homeostasis GO:0042632 9.26 CYP7A1 NR1H3 NR1H4 NR1I2
17 lipid metabolic process GO:0006629 9.1 CYP7A1 FDX1 HMGCR NR1H3 NR1H4 NR1I2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 CYP27A1 CYP27B1 CYP7A1 HMGCR
2 transcription factor binding GO:0008134 9.74 NR1H3 NR1H4 NR1I2
3 lipid binding GO:0008289 9.73 NR1H3 NR1H4 NR1I2
4 transcription coactivator activity GO:0003713 9.72 NR1H3 NR1H4 NR1I2
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 NR1H3 NR1H4 NR1I2
6 heme binding GO:0020037 9.65 CYP27A1 CYP27B1 CYP7A1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.61 NR1H3 NR1H4 NR1I2
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.58 CYP27A1 CYP27B1 CYP7A1
9 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.54 NR1H3 NR1H4 NR1I2
10 steroid hydroxylase activity GO:0008395 9.52 CYP27A1 CYP7A1
11 steroid hormone receptor activity GO:0003707 9.5 NR1H3 NR1H4 NR1I2
12 thyroid hormone receptor activity GO:0004887 9.46 NR1H4 NR1I2
13 nuclear receptor activity GO:0004879 9.43 NR1H3 NR1H4 NR1I2
14 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.33 NR1H3 NR1H4 NR1I2
15 iron ion binding GO:0005506 9.26 CYP27A1 CYP27B1 CYP7A1 FDX1
16 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 8.8 NR1H3 NR1H4 NR1I2
17 metal ion binding GO:0046872 10.05 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H3 NR1H4

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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