MCID: CRB011
MIFTS: 59

Cerebrotendinous Xanthomatosis malady

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

Aliases & Classifications for Cerebrotendinous Xanthomatosis

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 36MeSH, 65UMLS, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 49 10 11 21 45 22 23 12 51 67
Ctx 45 22 23 51 67
Cerebral Cholesterinosis 45 22 23 67
Xanthomatosis, Cerebrotendinous 23 36 65
Cholestanol Storage Disease 10 23 24
 
Sterol 27-Hydroxylase Deficiency 45 51
Van Bogaert-Scherer-Epstein Disease 23
Cerebrotendinous Cholesterinosis 23
Xanthomatosis Cerebrotendinous 47

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
cerebrotendinous xanthomatosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 213700
Disease Ontology10 DOID:4810
MeSH36 D019294
NCIt42 C84628
Orphanet51 909
SNOMED-CT59 63246000
ICD10 via Orphanet28 E75.5
MESH via Orphanet37 D019294
UMLS via Orphanet66 C0238052
MedGen34 C0238052
UMLS65 C0238052

Summaries for Cerebrotendinous Xanthomatosis

About this section
OMIM:49 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive... (213700) more...

MalaCards based summary: Cerebrotendinous Xanthomatosis, also known as ctx, is related to sitosterolemia and xanthomatosis, and has symptoms including cognitive impairment, involuntary movements and multiple lipomas. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are PPAR signaling pathway and Statin Pathway. Affiliated tissues include brain, bone and lung, and related mouse phenotype liver/biliary system.

Disease Ontology:10 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

NIH Rare Diseases:45 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013

UniProtKB/Swiss-Prot:67 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Genetics Home Reference:23 Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).

GeneReviews summary for NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

About this section

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



Diseases related to cerebrotendinous xanthomatosis

Symptoms for Cerebrotendinous Xanthomatosis

About this section

Symptoms by clinical synopsis from OMIM:

213700

Clinical features from OMIM:

213700

Symptoms:

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

HPO human phenotypes related to Cerebrotendinous Xanthomatosis:

(show all 49)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 involuntary movements hallmark (90%) HP:0004305
3 multiple lipomas hallmark (90%) HP:0001012
4 cataract hallmark (90%) HP:0000518
5 peripheral neuropathy typical (50%) HP:0009830
6 abnormal pyramidal signs typical (50%) HP:0007256
7 developmental regression typical (50%) HP:0002376
8 neurological speech impairment typical (50%) HP:0002167
9 abnormality of extrapyramidal motor function typical (50%) HP:0002071
10 hyperreflexia typical (50%) HP:0001347
11 tremor typical (50%) HP:0001337
12 muscle weakness typical (50%) HP:0001324
13 hypertonia typical (50%) HP:0001276
14 hallucinations typical (50%) HP:0000738
15 cerebral calcification occasional (7.5%) HP:0002514
16 eeg abnormality occasional (7.5%) HP:0002353
17 malabsorption occasional (7.5%) HP:0002024
18 abnormality of the liver occasional (7.5%) HP:0001392
19 limitation of joint mobility occasional (7.5%) HP:0001376
20 seizures occasional (7.5%) HP:0001250
21 nephrolithiasis occasional (7.5%) HP:0000787
22 abnormality of the dentate nucleus HP:0100321
23 abnormality of central somatosensory evoked potentials HP:0100291
24 tendon xanthomatosis HP:0010874
25 eeg with generalized slow activity HP:0010845
26 peripheral neuropathy HP:0009830
27 abnormal pyramidal signs HP:0007256
28 pseudobulbar paralysis HP:0007024
29 emg HP:0003482
30 abnormality of cholesterol metabolism HP:0003107
31 abnormality of the periventricular white matter HP:0002518
32 respiratory insufficiency HP:0002093
33 cerebral atrophy HP:0002059
34 diarrhea HP:0002014
35 angina pectoris HP:0001681
36 myocardial infarction HP:0001658
37 cerebellar atrophy HP:0001272
38 spasticity HP:0001257
39 ataxia HP:0001251
40 seizures HP:0001250
41 intellectual disability HP:0001249
42 xanthelasma HP:0001114
43 cholelithiasis HP:0001081
44 osteoporosis HP:0000939
45 delusions HP:0000746
46 hallucinations HP:0000738
47 dementia HP:0000726
48 optic disc pallor HP:0000543
49 cataract HP:0000518

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

About this section

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cholecalciferolapproved, nutraceuticalPhase 479967-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
 
Colecalciferol
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
2Trace ElementsPhase 43900
3VitaminsPhase 43857
4Bone Density Conservation AgentsPhase 42600
5MicronutrientsPhase 43901
6vitamin dPhase 41524
7HormonesPhase 411748
8Calcium, DietaryPhase 44678
9CalciferolNutraceuticalPhase 41074
10
chenodeoxycholic acidapprovedPhase 225474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
11
Lovastatinapproved, investigationalPhase 25975330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
12Hypolipidemic AgentsPhase 22228
13L 647318Phase 259
14LaxativesPhase 2344
15Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21804
16AntimetabolitesPhase 29454
17Anticholesteremic AgentsPhase 21732
18Gastrointestinal AgentsPhase 26401
19CatharticsPhase 2344
20DihydromevinolinPhase 259
21Calcifediol3219356-17-3

Interventional clinical trials:

idNameStatusNCT IDPhase
1Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical TrialActive, not recruitingNCT01304927Phase 4
2Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisRecruitingNCT00004346Phase 2
3The Role of Narrowband Ultraviolet B Exposure in the Maintenance of Vitamin D Levels During WinterCompletedNCT02275650
4Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
5Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisRecruitingNCT01613898
6Clinical Tests to Predict the Success of Assisted Reproductive TechniquesRecruitingNCT02437578
7Cholestanol in HumansWithdrawnNCT00018694

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis


Cochrane evidence based reviews: xanthomatosis, cerebrotendinous

Genetic Tests for Cerebrotendinous Xanthomatosis

About this section

Genetic tests related to Cerebrotendinous Xanthomatosis:

id Genetic test Affiliating Genes
1 Cerebrotendinous Xanthomatosis22 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

About this section

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

33
Brain, Bone, Lung, Liver, Spinal cord, Prostate, Eye

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5CYP27A1, CYP7A1, HMGCR, NR1H4, NR1I2

Publications for Cerebrotendinous Xanthomatosis

About this section

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 387)
idTitleAuthorsYear
1
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. (27084087)
2016
2
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. (26239048)
2015
3
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
4
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
5
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
6
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
7
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
8
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
9
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. (23124517)
2012
10
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. (21531161)
2011
11
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
12
Cerebrotendinous xanthomatosis]. (19034999)
2008
13
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
14
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
15
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. (12141707)
2002
16
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
17
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
18
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
19
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
20
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. (8728324)
1996
21
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
22
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
23
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
24
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
25
Determination of the glucurono-conjugated position in bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study. (8089079)
1994
26
Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. I. High-performance liquid chromatographic analysis of bile alcohol glucuronides in cerebrotendinous xanthomatosis. (7920441)
1994
27
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family. (8162025)
1994
28
Cerebrotendinous Xanthomatosis (20301583)
1993
29
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8231848)
1993
30
Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. (8445406)
1993
31
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
32
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
33
Paediatric cerebrotendinous xanthomatosis. (1405473)
1992
34
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
35
Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). (2303834)
1990
36
Cerebrotendinous xanthomatosis. (2329221)
1990
37
Cerebrotendinous xanthomatosis. (2493565)
1989
38
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
39
Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. (3557306)
1987
40
Peripheral neuropathy in cerebrotendinous xanthomatosis. (2994606)
1985
41
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
42
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
43
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
44
Assay of intermediates in bile acid biosynthesis using isotope dilution--mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis. (7017048)
1981
45
Peripheral neuropathy in cerebrotendinous xanthomatosis. (221858)
1979
46
Configurational assignment of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23, 25-pentol excreted by patients with cerebrotendinous xanthomatosis (a circular dichroism study). (442127)
1979
47
Identifications of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23 beta-tetrol, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 alpha-tetrol, and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 beta-tetrol in cerebrotendinous xanthomatosis. (663972)
1978
48
Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study. (632682)
1978
49
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (1212241)
1975
50
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. (5134895)
1971

Variations for Cerebrotendinous Xanthomatosis

About this section

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

67
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303
2CYP27A1p.Arg479CysVAR_001304
3CYP27A1p.Arg395SerVAR_012285
4CYP27A1p.Arg405GlnVAR_012286rs121908099
5CYP27A1p.Arg474GlnVAR_012287
6CYP27A1p.Arg474TrpVAR_012288
7CYP27A1p.Gly145GluVAR_016966

Clinvar genetic disease variations for Cerebrotendinous Xanthomatosis:

5 (show all 62)
id Gene Variation Type Significance SNP ID Assembly Location
1CYP27A1NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys)single nucleotide variantPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
2CYP27A1NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys)single nucleotide variantPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
3CYP27A1NM_000784.3(CYP27A1): c.845-1G> Asingle nucleotide variantPathogenicrs397515353GRCh37Chr 2, 219677646: 219677646
4CYP27A1NM_000784.3(CYP27A1): c.844+1G> Asingle nucleotide variantPathogenicrs397515354GRCh37Chr 2, 219677473: 219677473
5CYP27A1NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln)single nucleotide variantPathogenicrs121908097GRCh37Chr 2, 219679425: 219679425
6CYP27A1NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp)single nucleotide variantPathogenicrs121908098GRCh37Chr 2, 219679424: 219679424
7CYP27A1NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln)single nucleotide variantPathogenicrs121908099GRCh37Chr 2, 219679132: 219679132
8CYP27A1NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser)single nucleotide variantPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
9CYP27A1NM_000784.3(CYP27A1): c.1263+1G> Asingle nucleotide variantPathogenicrs397515355GRCh37Chr 2, 219679182: 219679182
10CYP27A1NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu)single nucleotide variantPathogenicrs72551313GRCh37Chr 2, 219674478: 219674478
11CYP27A1NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs)deletionPathogenicrs397515356GRCh37Chr 2, 219677746: 219677750
12CYP27A1NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met)single nucleotide variantPathogenicrs121908102GRCh37Chr 2, 219677818: 219677818
13CYP27A1NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly)single nucleotide variantPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
14CYP27A1NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=)single nucleotide variantPathogenicrs200553205GRCh37Chr 2, 219677819: 219677819
15CYP27A1NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly)single nucleotide variantPathogenicrs72551320GRCh37Chr 2, 219678787: 219678787
16NM_000784.3: c.10_11 ins10bpinsertionPathogenic
17NM_000784.3: c.1146_1151delinsinsertionPathogenic
18CYP27A1NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicrs41272687GRCh37Chr 2, 219678877: 219678877
19NM_000784.3: c.1180-1181delCTdeletionPathogenic
20CYP27A1NM_000784.3(CYP27A1): c.1184+1G> Asingle nucleotide variantPathogenicrs587778777GRCh37Chr 2, 219678911: 219678911
21CYP27A1NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His)single nucleotide variantPathogenicrs587778778GRCh37Chr 2, 219678910: 219678910
22CYP27A1NM_000784.3(CYP27A1): c.1185-1G> Tsingle nucleotide variantPathogenicrs587778779GRCh38Chr 2, 218814379: 218814379
23CYP27A1NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg)single nucleotide variantPathogenicrs587778780GRCh37Chr 2, 219679120: 219679120
24CYP27A1NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys)single nucleotide variantPathogenicrs587778781GRCh37Chr 2, 219679127: 219679127
25CYP27A1NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp)single nucleotide variantPathogenicrs573951598GRCh37Chr 2, 219679131: 219679131
26CYP27A1NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter)single nucleotide variantPathogenicrs587778782GRCh37Chr 2, 219679140: 219679140
27CYP27A1NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp)single nucleotide variantPathogenicrs587778783GRCh37Chr 2, 219679156: 219679156
28CYP27A1NM_000784.3(CYP27A1): c.1263+5G> Tsingle nucleotide variantPathogenicrs587778784GRCh37Chr 2, 219679186: 219679186
29NM_000784.3: c.1263+81_1596+?deldeletionPathogenic
30CYP27A1NM_000784.3(CYP27A1): c.1264-1G> Asingle nucleotide variantPathogenicrs587778785GRCh37Chr 2, 219679267: 219679267
31NM_000784.3: c.1323C> Tsingle nucleotide variantPathogenic
32NM_000784.3: c.1330-1333delTTCCdeletionPathogenic
33CYP27A1NM_000784.3(CYP27A1): c.1402C> T (p.Pro468Ser)single nucleotide variantPathogenicrs587778787GRCh37Chr 2, 219679406: 219679406
34CYP27A1NM_000784.3(CYP27A1): c.1415G> C (p.Gly472Ala)single nucleotide variantPathogenicrs200883871GRCh37Chr 2, 219679419: 219679419
35CYP27A1NM_000784.3(CYP27A1): c.305delC (p.Pro102Leufs)deletionPathogenicrs587778790GRCh37Chr 2, 219674349: 219674349
36CYP27A1NM_000784.3(CYP27A1): c.355delC (p.Arg119Glyfs)deletionPathogenicrs587778793GRCh37Chr 2, 219674399: 219674399
37CYP27A1NM_000784.3(CYP27A1): c.369_375delGTACCCA (p.Pro125Glyfs)deletionPathogenicrs587778794GRCh37Chr 2, 219674413: 219674419
38CYP27A1NM_000784.3(CYP27A1): c.379C> T (p.Arg127Trp)single nucleotide variantPathogenicrs201114717GRCh37Chr 2, 219674423: 219674423
39CYP27A1NM_000784.3(CYP27A1): c.380G> A (p.Arg127Gln)single nucleotide variantPathogenicrs376230356GRCh37Chr 2, 219674424: 219674424
40CYP27A1NM_000784.3(CYP27A1): c.409C> T (p.Arg137Trp)single nucleotide variantPathogenicrs72551312GRCh37Chr 2, 219674453: 219674453
41CYP27A1NM_000784.3(CYP27A1): c.433G> A (p.Gly145Arg)single nucleotide variantPathogenicrs587778795GRCh37Chr 2, 219674477: 219674477
42CYP27A1NM_000784.3(CYP27A1): c.435G> T (p.Gly145=)single nucleotide variantPathogenicrs587778796GRCh37Chr 2, 219674479: 219674479
43CYP27A1NM_000784.3(CYP27A1): c.446+1G> Asingle nucleotide variantPathogenicrs587778797GRCh37Chr 2, 219674491: 219674491
44CYP27A1NM_000784.3(CYP27A1): c.475C> T (p.Gln159Ter)single nucleotide variantPathogenicrs72551314GRCh37Chr 2, 219676973: 219676973
45NM_000784.3: c.525-526delGdeletionPathogenic
46CYP27A1NM_000784.3(CYP27A1): c.583G> T (p.Glu195Ter)single nucleotide variantPathogenicrs587778800GRCh37Chr 2, 219677081: 219677081
47NM_000784.3: c.599C> Tsingle nucleotide variantPathogenic
48CYP27A1NM_000784.3(CYP27A1): c.5dupC (p.Ala3Cysfs)duplicationPathogenicrs587778802GRCh37Chr 2, 219646910: 219646910
49CYP27A1NM_000784.3(CYP27A1): c.646G> C (p.Ala216Pro)single nucleotide variantPathogenicrs201346271GRCh37Chr 2, 219677144: 219677144
50CYP27A1NM_000784.3(CYP27A1): c.647-1G> Tsingle nucleotide variantPathogenicrs587778804GRCh37Chr 2, 219677274: 219677274
51CYP27A1NM_000784.3(CYP27A1): c.691C> T (p.Arg231Ter)single nucleotide variantPathogenicrs72551315GRCh37Chr 2, 219677319: 219677319
52CYP27A1NM_000784.3(CYP27A1): c.73delG (p.Ala25Profs)deletionPathogenicrs587778807GRCh37Chr 2, 219646978: 219646978
53CYP27A1NM_000784.3(CYP27A1): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs72551316GRCh37Chr 2, 219677373: 219677373
54CYP27A1NM_000784.3(CYP27A1): c.752C> A (p.Ser251Ter)single nucleotide variantPathogenicrs587778808GRCh37Chr 2, 219677380: 219677380
55CYP27A1NM_000784.3(CYP27A1): c.776A> G (p.Lys259Arg)single nucleotide variantPathogenicrs72551317GRCh37Chr 2, 219677404: 219677404
56CYP27A1NM_000784.3(CYP27A1): c.779G> A (p.Trp260Ter)single nucleotide variantPathogenicrs587778810GRCh37Chr 2, 219677407: 219677407
57CYP27A1NM_000784.3(CYP27A1): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicrs72551318GRCh37Chr 2, 219677436: 219677436
58CYP27A1NM_000784.3(CYP27A1): c.819delT (p.Asp273Glufs)deletionPathogenicrs587778812GRCh37Chr 2, 219677447: 219677447
59CYP27A1NM_000784.3(CYP27A1): c.850A> T (p.Lys284Ter)single nucleotide variantPathogenicrs72551319GRCh37Chr 2, 219677652: 219677652
60CYP27A1NM_000784.3(CYP27A1): c.863delA (p.Glu288Glyfs)deletionPathogenicrs587778815GRCh37Chr 2, 219677665: 219677665
61CYP27A1NM_000784.3(CYP27A1): c.410G> A (p.Arg137Gln)single nucleotide variantPathogenicrs587778818GRCh37Chr 2, 219674454: 219674454
62NP_000775.1: p.Trp133*undetermined variantPathogenic

Expression for genes affiliated with Cerebrotendinous Xanthomatosis

About this section
Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

About this section

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7CYP27A1, CYP7A1
2
Show member pathways
9.7CYP7A1, HMGCR
39.5CYP27A1, CYP27B1
4
Show member pathways
9.5CYP3A4, CYP7A1
59.5CYP27B1, NR1H4
6
Show member pathways
9.4CYP3A4, NR1I2
7
Show member pathways
9.4CYP3A4, NR1I2
89.3CYP27B1, CYP3A4
9
Show member pathways
9.3CYP27A1, CYP7A1, NR1H4
109.1CYP3A4, HMGCR, NR1I2
11
Show member pathways
9.0CYP27B1, NR1H4, NR1I2
128.8CYP27B1, CYP3A4, NR1I2
138.8CYP3A4, CYP7A1, HMGCR, NR1H4
148.0CYP27B1, CYP3A4, CYP7A1, NR1H4, NR1I2
158.0CYP27B1, CYP3A4, CYP7A1, NR1H4, NR1I2
16
Show member pathways
7.8CYP27A1, CYP27B1, CYP3A4, CYP7A1, FDX1, NR1H4
17
Show member pathways
7.8CYP27A1, CYP27B1, CYP3A4, CYP7A1, FDX1, NR1H4
18
Show member pathways
7.4CYP27A1, CYP27B1, CYP3A4, CYP7A1, FDX1, HMGCR

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sterol metabolic processGO:00161259.5CYP27A1, CYP7A1, FDX1
2vitamin D metabolic processGO:00423599.3CYP27B1, CYP3A4
3calcitriol biosynthetic process from calciolGO:00363789.2CYP27B1, CYP3A4
4small molecule metabolic processGO:00442818.9CYP7A1, FDX1, HMGCR, NR1H4
5xenobiotic metabolic processGO:00068058.6CYP27B1, CYP3A4, CYP7A1, NR1I2

Sources for Cerebrotendinous Xanthomatosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet