MCID: CRB011
MIFTS: 64

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 53 12 23 49 24 55 71 36 13 14
Ctx 53 49 24 55 71
Cerebral Cholesterinosis 53 49 24 71
Cholestanol Storage Disease 12 24 28
Sterol 27-Hydroxylase Deficiency 49 55
Xanthomatosis, Cerebrotendinous 41 69
Xanthomatosis Cerebrotendinous 72 51
Van Bogaert-Scherer-Epstein Disease 24
Cerebrotendinous Cholesterinosis 24
Cholestanolosis 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 53 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 seizures, angina pectoris and myoclonus. 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 Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 : 24 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 : 49 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. Last updated: 8/23/2017

UniProtKB/Swiss-Prot : 71 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 72 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 30.6 CYP27A1 CYP7A1 HMGCR NR1H4 NR1I2
2 sitosterolemia 29.5 CYP27A1 CYP7A1 HMGCR
3 cholestasis 29.2 CYP7A1 NR1H4 NR1I2
4 leukodystrophy 11.6
5 congenital toxoplasmosis 11.1
6 cataract 10.4
7 pneumonia 10.3
8 ataxia and polyneuropathy, adult-onset 10.2
9 neuropathy 10.2
10 osteoporosis 10.2
11 bone mineral density quantitative trait locus 8 10.2
12 bone mineral density quantitative trait locus 15 10.2
13 dementia 10.2
14 diarrhea 10.2
15 polyneuropathy 10.2
16 streptococcal group a invasive disease 10.2
17 hepatitis 10.1
18 epilepsy 10.1
19 cerebritis 10.1
20 dystonia 10.1
21 lipid storage disease 10.1
22 arteries, anomalies of 10.0
23 aging 10.0
24 hypercholesterolemia, autosomal dominant, 3 10.0
25 bone fracture 10.0
26 coronary artery anomaly 10.0
27 oromandibular dystonia 10.0
28 aneurysm 10.0
29 aortic aneurysm, familial abdominal, 1 9.9
30 multiple sclerosis 9.9
31 hypercholesterolemia, familial 9.9
32 marfan syndrome 9.9
33 autism 9.9
34 vitamin d hydroxylation-deficient rickets, type 1a 9.9
35 smith-lemli-opitz syndrome 9.9
36 lysosomal acid lipase deficiency 9.9
37 opitz gbbb syndrome, type i 9.9
38 aceruloplasminemia 9.9
39 langerhans cell histiocytosis 9.9
40 lymphangioleiomyomatosis 9.9
41 coronary heart disease 1 9.9
42 myocardial infarction 9.9
43 ataxia-oculomotor apraxia 3 9.9
44 alacrima, achalasia, and mental retardation syndrome 9.9
45 tendinitis 9.9
46 acute myocardial infarction 9.9
47 liver disease 9.9
48 nephrolithiasis 9.9
49 thrombocytopenia 9.9
50 autism spectrum disorder 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:

53
NeurologicCentralNervousSystem:
cerebellar ataxia
spasticity
dementia
pseudobulbar paralysis
mental retardation
more
Skeletal:
osteoporosis

NeurologicPeripheralNervousSystem:
peripheral neuropathy

HeadAndNeckEyes:
juvenile cataracts

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

RespiratoryLung:
respiratory insufficiency

CardiovascularHeart:
myocardial infarction
angina

SkinNailsHairSkin:
xanthelasma
tuberous xanthoma

SkeletalLimbs:
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:

55 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 angina pectoris 55 31 frequent (33%) Frequent (79-30%) HP:0001681
3 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
5 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
6 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
7 abnormality of extrapyramidal motor function 55 31 frequent (33%) Frequent (79-30%) HP:0002071
8 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
9 dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001332
10 abnormal pyramidal signs 55 31 frequent (33%) Frequent (79-30%) HP:0007256
11 joint dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001373
12 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
13 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
14 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
15 neurological speech impairment 55 31 frequent (33%) Frequent (79-30%) HP:0002167
16 eeg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0002353
17 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
18 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
19 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
20 hallucinations 55 31 frequent (33%) Frequent (79-30%) HP:0000738
21 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
22 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
23 myocardial infarction 55 31 frequent (33%) Frequent (79-30%) HP:0001658
24 peripheral neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0009830
25 cholestasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001396
26 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
27 hypercholesterolemia 55 31 frequent (33%) Frequent (79-30%) HP:0003124
28 atherosclerosis 55 31 frequent (33%) Frequent (79-30%) HP:0002621
29 abnormality of cholesterol metabolism 55 31 Frequent (79-30%) HP:0003107
30 xanthelasma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001114
31 abnormality of the periventricular white matter 55 31 frequent (33%) Frequent (79-30%) HP:0002518
32 ataxia 31 HP:0001251
33 depression 55 Frequent (79-30%)
34 respiratory insufficiency 31 HP:0002093
35 behavioral abnormality 55 Frequent (79-30%)
36 abnormality of the eye 55 Very frequent (99-80%)
37 osteoporosis 31 HP:0000939
38 cholelithiasis 31 HP:0001081
39 dementia 31 HP:0000726
40 cerebellar atrophy 31 HP:0001272
41 cerebral atrophy 31 HP:0002059
42 optic disc pallor 31 HP:0000543
43 xanthomatosis 55 Very frequent (99-80%)
44 eeg with generalized slow activity 31 HP:0010845
45 tendon xanthomatosis 31 HP:0010874
46 delusions 31 HP:0000746
47 abnormality of the dentate nucleus 31 HP:0100321
48 pseudobulbar paralysis 31 HP:0007024
49 depressivity 31 frequent (33%) HP:0000716
50 emg 31 HP:0003482

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


muscle spasticity, cerebellar ataxia, angina pectoris

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

43
# 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 CYP27A1 CYP27B1 CYP7A1 HMGCR NR1H3 NR1H4
3 liver/biliary system MP:0005370 9.43 CYP27A1 CYP7A1 HMGCR NR1H3 NR1H4 NR1I2
4 mortality/aging MP:0010768 9.17 FDX1 HMGCR NR1H3 NR1H4 NR1I2 VCL

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
Cholecalciferol Approved, Nutraceutical Phase 2, Phase 3 67-97-0 10883523 5280795 6221
2
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
4 Bone Density Conservation Agents Phase 2, Phase 3
5 Calcium, Dietary Phase 2, Phase 3
6 Ergocalciferols Phase 2, Phase 3
7 Hormones Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Calciferol Nutraceutical Phase 2, Phase 3
12 Vitamin D2 Nutraceutical Phase 2, Phase 3
13
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
14
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
15 Anticholesteremic Agents Phase 2
16 Antimetabolites Phase 2
17 Cathartics Phase 2
18 Dihydromevinolin Phase 2
19 Gastrointestinal Agents Phase 2
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Hypolipidemic Agents Phase 2
22 L 647318 Phase 2
23 Laxatives Phase 2
24 Lipid Regulating Agents Phase 2
25 Calcifediol 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
5 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
6 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Active, not recruiting NCT02437578
7 Cholestanol in Humans 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 28 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

38
Brain, Bone, Lung, Eye, Heart, Spinal Cord, Testes

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 421)
# Title Authors Year
1
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
2
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
3
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
4
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
5
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
6
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
7
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. ( 29095540 )
2017
8
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. ( 29079218 )
2017
9
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
10
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
11
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. ( 29242796 )
2017
12
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
13
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
14
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
15
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
16
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
17
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
18
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. ( 29058268 )
2017
19
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
20
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
21
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
22
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
23
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). ( 28980151 )
2017
24
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
25
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
26
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
27
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
28
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
29
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
30
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
31
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
32
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
33
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
34
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
35
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
36
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
37
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
38
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
39
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. ( 26844446 )
2015
40
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
41
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015
42
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. ( 26937392 )
2015
43
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. ( 26519892 )
2015
44
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. ( 26156051 )
2015
45
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. ( 26643207 )
2015
46
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. ( 25567502 )
2015
47
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. ( 26153518 )
2015
48
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. ( 25983621 )
2015
49
Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests. ( 24553972 )
2014
50
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. ( 24442603 )
2014

Variations for Cerebrotendinous Xanthomatosis

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

71
# 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 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
2 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
3 NM_000784.3: c.10_11 ins10bp insertion Pathogenic
4 NM_000784.3: c.1146_1151delins insertion Pathogenic
5 NM_000784.3: c.1180-1181delCT deletion Pathogenic
6 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh37 Chromosome 2, 219678911: 219678911
7 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs587778778 GRCh37 Chromosome 2, 219678910: 219678910
8 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102
9 CYP27A1 NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg) single nucleotide variant Pathogenic rs587778780 GRCh37 Chromosome 2, 219679120: 219679120
10 CYP27A1 NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys) single nucleotide variant Pathogenic rs587778781 GRCh37 Chromosome 2, 219679127: 219679127
11 CYP27A1 NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp) single nucleotide variant Pathogenic rs573951598 GRCh37 Chromosome 2, 219679131: 219679131
12 CYP27A1 NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter) single nucleotide variant Pathogenic rs587778782 GRCh37 Chromosome 2, 219679140: 219679140
13 CYP27A1 NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp) single nucleotide variant Pathogenic rs587778783 GRCh37 Chromosome 2, 219679156: 219679156
14 CYP27A1 NM_000784.3(CYP27A1): c.1263+5G> T single nucleotide variant Pathogenic rs587778784 GRCh37 Chromosome 2, 219679186: 219679186
15 NM_000784.3: c.1263+81_1596+?del deletion Pathogenic
16 CYP27A1 NM_000784.3(CYP27A1): c.1264-1G> A single nucleotide variant Pathogenic rs587778785 GRCh37 Chromosome 2, 219679267: 219679267
17 NM_000784.3: c.1323C> T single nucleotide variant Pathogenic
18 NM_000784.3: c.1330-1333delTTCC deletion Pathogenic
19 CYP27A1 NM_000784.3(CYP27A1): c.1402C> T (p.Pro468Ser) single nucleotide variant Pathogenic rs587778787 GRCh37 Chromosome 2, 219679406: 219679406
20 CYP27A1 NM_000784.3(CYP27A1): c.1415G> C (p.Gly472Ala) single nucleotide variant Pathogenic rs200883871 GRCh37 Chromosome 2, 219679419: 219679419
21 CYP27A1 NM_000784.3(CYP27A1): c.305delC (p.Pro102Leufs) deletion Pathogenic rs587778790 GRCh37 Chromosome 2, 219674349: 219674349
22 CYP27A1 NM_000784.3(CYP27A1): c.355delC (p.Arg119Glyfs) deletion Pathogenic rs587778793 GRCh37 Chromosome 2, 219674399: 219674399
23 CYP27A1 NM_000784.3(CYP27A1): c.369_375delGTACCCA (p.Pro125Glyfs) deletion Pathogenic rs587778794 GRCh37 Chromosome 2, 219674413: 219674419
24 CYP27A1 NM_000784.3(CYP27A1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs201114717 GRCh37 Chromosome 2, 219674423: 219674423
25 CYP27A1 NM_000784.3(CYP27A1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic rs376230356 GRCh37 Chromosome 2, 219674424: 219674424
26 CYP27A1 NM_000784.3(CYP27A1): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs72551312 GRCh37 Chromosome 2, 219674453: 219674453
27 CYP27A1 NM_000784.3(CYP27A1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs587778795 GRCh37 Chromosome 2, 219674477: 219674477
28 CYP27A1 NM_000784.3(CYP27A1): c.435G> T (p.Gly145=) single nucleotide variant Pathogenic/Likely pathogenic rs587778796 GRCh37 Chromosome 2, 219674479: 219674479
29 CYP27A1 NM_000784.3(CYP27A1): c.446+1G> A single nucleotide variant Pathogenic rs587778797 GRCh37 Chromosome 2, 219674491: 219674491
30 CYP27A1 NM_000784.3(CYP27A1): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72551314 GRCh37 Chromosome 2, 219676973: 219676973
31 NM_000784.3: c.525-526delG deletion Pathogenic
32 CYP27A1 NM_000784.3(CYP27A1): c.583G> T (p.Glu195Ter) single nucleotide variant Pathogenic rs587778800 GRCh37 Chromosome 2, 219677081: 219677081
33 NM_000784.3: c.599C> T single nucleotide variant Pathogenic
34 CYP27A1 NM_000784.3(CYP27A1): c.5_6insC (p.Ala3Cysfs) insertion Pathogenic rs587778802 GRCh37 Chromosome 2, 219646910: 219646910
35 CYP27A1 NM_000784.3(CYP27A1): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs201346271 GRCh37 Chromosome 2, 219677144: 219677144
36 CYP27A1 NM_000784.3(CYP27A1): c.647-1G> T single nucleotide variant Pathogenic rs587778804 GRCh37 Chromosome 2, 219677274: 219677274
37 CYP27A1 NM_000784.3(CYP27A1): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs72551315 GRCh37 Chromosome 2, 219677319: 219677319
38 CYP27A1 NM_000784.3(CYP27A1): c.73delG (p.Ala25Profs) deletion Pathogenic rs587778807 GRCh37 Chromosome 2, 219646978: 219646978
39 CYP27A1 NM_000784.3(CYP27A1): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs72551316 GRCh37 Chromosome 2, 219677373: 219677373
40 CYP27A1 NM_000784.3(CYP27A1): c.752C> A (p.Ser251Ter) single nucleotide variant Pathogenic rs587778808 GRCh37 Chromosome 2, 219677380: 219677380
41 CYP27A1 NM_000784.3(CYP27A1): c.776A> G (p.Lys259Arg) single nucleotide variant Pathogenic rs72551317 GRCh37 Chromosome 2, 219677404: 219677404
42 CYP27A1 NM_000784.3(CYP27A1): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs587778810 GRCh37 Chromosome 2, 219677407: 219677407
43 CYP27A1 NM_000784.3(CYP27A1): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs72551318 GRCh37 Chromosome 2, 219677436: 219677436
44 CYP27A1 NM_000784.3(CYP27A1): c.819delT (p.Asp273Glufs) deletion Pathogenic rs587778812 GRCh37 Chromosome 2, 219677447: 219677447
45 CYP27A1 NM_000784.3(CYP27A1): c.850A> T (p.Lys284Ter) single nucleotide variant Pathogenic rs72551319 GRCh37 Chromosome 2, 219677652: 219677652
46 CYP27A1 NM_000784.3(CYP27A1): c.863delA (p.Glu288Glyfs) deletion Pathogenic rs587778815 GRCh37 Chromosome 2, 219677665: 219677665
47 CYP27A1 NM_000784.3(CYP27A1): c.410G> A (p.Arg137Gln) single nucleotide variant Pathogenic rs587778818 GRCh37 Chromosome 2, 219674454: 219674454
48 NP_000775.1: p.Trp133* undetermined variant Pathogenic
49 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
50 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR NR1H3
2
Show member pathways
12.84 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

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.63 NR1H3 NR1H4 NR1I2
3 cholesterol metabolic process GO:0008203 9.58 CYP7A1 FDX1 HMGCR
4 cholesterol homeostasis GO:0042632 9.52 CYP7A1 NR1H3
5 steroid biosynthetic process GO:0006694 9.51 FDX1 HMGCR
6 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1H3 NR1H4 NR1I2
7 bile acid biosynthetic process GO:0006699 9.49 CYP27A1 CYP7A1
8 triglyceride homeostasis GO:0070328 9.48 NR1H3 NR1H4
9 regulation of cholesterol homeostasis GO:2000188 9.43 NR1H3 NR1H4
10 intracellular receptor signaling pathway GO:0030522 9.33 NR1H3 NR1H4 NR1I2
11 regulation of bile acid biosynthetic process GO:0070857 9.26 CYP7A1 NR1H4
12 sterol metabolic process GO:0016125 9.13 CYP27A1 CYP7A1 FDX1
13 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 metal ion binding GO:0046872 9.98 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H3 NR1H4
2 oxidoreductase activity GO:0016491 9.71 CYP27A1 CYP27B1 CYP7A1 HMGCR
3 transcription coactivator activity GO:0003713 9.63 NR1H3 NR1H4 NR1I2
4 heme binding GO:0020037 9.54 CYP27A1 CYP27B1 CYP7A1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP27A1 CYP27B1 CYP7A1
6 steroid hormone receptor activity GO:0003707 9.33 NR1H3 NR1H4 NR1I2
7 thyroid hormone receptor activity GO:0004887 9.32 NR1H4 NR1I2
8 nuclear receptor activity GO:0004879 9.13 NR1H3 NR1H4 NR1I2
9 iron ion binding GO:0005506 8.92 CYP27A1 CYP27B1 CYP7A1 FDX1

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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