MCID: CRB011
MIFTS: 60

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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 25GTR, 37MeSH, 66UMLS, 48Novoseek, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 50 11 22 46 23 24 13 52 68 12
Ctx 46 23 24 52 68
Cerebral Cholesterinosis 46 23 24 68
Xanthomatosis, Cerebrotendinous 24 37 66
Cholestanol Storage Disease 11 24 25
 
Sterol 27-Hydroxylase Deficiency 46 52
Van Bogaert-Scherer-Epstein Disease 24
Cerebrotendinous Cholesterinosis 24
Xanthomatosis Cerebrotendinous 48

Characteristics:

Orphanet epidemiological data:

52
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:

62
cerebrotendinous xanthomatosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 213700
Disease Ontology11 DOID:4810
MeSH37 D019294
NCIt43 C84628
Orphanet52 ORPHA909
SNOMED-CT60 63246000
ICD10 via Orphanet29 E75.5
MESH via Orphanet38 D019294
UMLS via Orphanet67 C0238052
MedGen35 C0238052

Summaries for Cerebrotendinous Xanthomatosis

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OMIM:50 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 cataract, multiple lipomas and involuntary movements. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are Metformin Pathway, Pharmacodynamics and Vitamin D synthesis. Affiliated tissues include brain, bone and lung, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:11 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:46 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:68 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

GeneReviews summary for NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

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



Diseases related to cerebrotendinous xanthomatosis

Symptoms for Cerebrotendinous Xanthomatosis

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Symptoms by clinical synopsis from OMIM:

213700

Clinical features from OMIM:

213700

Symptoms:

 52 (show all 35)
  • abnormality of the eye
  • abnormality of vision
  • cataract
  • behavioral abnormality
  • depression
  • hallucinations
  • nephrolithiasis
  • xanthomatosis
  • xanthelasma
  • intellectual disability
  • seizures
  • spasticity
  • muscle weakness
  • dystonia
  • myoclonus
  • tremor
  • hyperreflexia
  • joint dislocation
  • joint stiffness
  • cholestasis
  • myocardial infarction
  • angina pectoris
  • diarrhea
  • malabsorption
  • abnormality of extrapyramidal motor function
  • neurological speech impairment
  • eeg abnormality
  • developmental regression
  • cerebral calcification
  • abnormality of the periventricular white matter
  • atherosclerosis
  • abnormality of cholesterol metabolism
  • hypercholesterolemia
  • abnormal pyramidal signs
  • peripheral neuropathy

HPO human phenotypes related to Cerebrotendinous Xanthomatosis:

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

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


cerebellar ataxia, muscle spasticity

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 2, Phase 31607
2
ErgocalciferolNutraceuticalPhase 2, Phase 3121150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
3
CholecalciferolNutraceuticalPhase 2, Phase 382667-97-06221, 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
4
LovastatinPhase 26075330-75-553232
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 & 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
5
chenodeoxycholic acidPhase 228474-25-910133
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
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
6Calcifediol4019356-17-3

Interventional clinical trials:

idNameStatusNCT IDPhase
1Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical TrialCompletedNCT01304927Phase 2, Phase 3
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

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Genetic tests related to Cerebrotendinous Xanthomatosis:

id Genetic test Affiliating Genes
1 Cholestanol Storage Disease25
2 Cerebrotendinous Xanthomatosis23 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

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MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

34
Brain, Bone, Lung, Spinal cord, Liver, Testes, Eye

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0CYP27A1, CYP7A1, HMGCR, NR1H3, NR1H4, NR1I2
2MP:00053767.2CYP27A1, CYP27B1, CYP7A1, HMGCR, NR1H3, NR1H4
3MP:00107686.6CYP7A1, FDX1, HMGCR, NR1H3, NR1H4, NR1I2

Publications for Cerebrotendinous Xanthomatosis

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Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 391)
idTitleAuthorsYear
1
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. (26153518)
2015
2
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
3
Cerebrotendinous xanthomatosis. (23682184)
2013
4
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
5
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
6
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
7
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. (23124517)
2012
8
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
9
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. (19117873)
2009
10
Teaching neuroimage: cerebrotendinous xanthomatosis. (18606959)
2008
11
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia. (18051740)
2007
12
Cerebrotendinous xanthomatosis. (17159091)
2006
13
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. (15549503)
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
Cerebrotendinous xanthomatosis in three siblings from a Chinese family. (11361235)
2001
17
Cerebrotendinous xanthomatosis. (11706139)
2001
18
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
19
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
20
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. (10406988)
1999
21
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
22
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). (8614539)
1996
23
PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism. (8791252)
1996
24
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
25
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
26
The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. (7484100)
1995
27
Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. (8052141)
1994
28
Cerebrotendinous Xanthomatosis (20301583)
1993
29
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
30
Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study. (1469424)
1992
31
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
32
Cerebrotendinous xanthomatosis. (2329221)
1990
33
Cerebrotendinous xanthomatosis. (2493565)
1989
34
Joint hypermobility in patients with cerebrotendinous xanthomatosis. (2625697)
1989
35
Central motor and sensory conduction in adrenoleukomyeloneuropathy, cerebrotendinous xanthomatosis, HTLV-1-associated myelopathy and tabes dorsalis. (2851031)
1988
36
Reduced C27-steroid 26-hydroxylase activity in heterozygotes for cerebrotendinous xanthomatosis. (3206189)
1988
37
Hepatic 7 alpha-dehydroxylation of bile acid intermediates, and its significance for the pathogenesis of cerebrotendinous xanthomatosis. (3367085)
1988
38
Aneurysmal coronary artery disease in cerebrotendinous xanthomatosis. (3364377)
1988
39
Bile acid profiles in bile, urine, and feces of a patient with cerebrotendinous xanthomatosis. (3660436)
1986
40
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
41
Cerebrotendinous xanthomatosis: biochemical response to inhibition of cholesterol synthesis. (6407679)
1983
42
Isolation of 5 alpha-cholestane-3 beta, 7 alpha-diol from bile of patients with cerebrotendinous xanthomatosis. Inefficiency of this steroid as a precursor to cholestanol. (6412759)
1983
43
Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study. (6848555)
1983
44
Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases. (6410671)
1983
45
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
46
Quantitative determination of cholestanol in plasma with mass fragmentography. Biochemical diagnosis of cerebrotendinous xanthomatosis. (794060)
1976
47
Familial cerebrotendinous xanthomatosis. Report of a new family and review of the literature. (1124985)
1975
48
Cerebrotendinous xanthomatosis (cholestanolosis). Investigations on two sisters and their family. (1130172)
1975
49
Cerebrotendinous xanthomatosis: a generalized disorder of cholestanol metabolism. (5374477)
1969
50
Cholestanol storage in the nervous system of two patients with cerebrotendinous xanthomatosis. (5711054)
1968

Variations for Cerebrotendinous Xanthomatosis

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

68
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303rs121908096
2CYP27A1p.Arg479CysVAR_001304rs72551322
3CYP27A1p.Arg395SerVAR_012285rs121908096
4CYP27A1p.Arg405GlnVAR_012286rs121908099
5CYP27A1p.Arg474GlnVAR_012287rs121908097
6CYP27A1p.Arg474TrpVAR_012288rs121908098
7CYP27A1p.Gly145GluVAR_016966rs72551313

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

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Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8HMGCR, NR1I2
29.6CYP27A1, CYP27B1
3
Show member pathways
9.6CYP7A1, HMGCR
49.3HMGCR, NR1H3
5
Show member pathways
9.2CYP27A1, CYP7A1, NR1H4
69.2CYP7A1, NR1H4, NR1I2
79.2CYP7A1, HMGCR, NR1H4
8
Show member pathways
8.9NR1H3, NR1H4, NR1I2
9
Show member pathways
8.8CYP27A1, CYP7A1, NR1H3
10
Show member pathways
8.2CYP27A1, CYP27B1, CYP7A1, FDX1, NR1H4
11
Show member pathways
8.2CYP27A1, CYP27B1, CYP7A1, FDX1, NR1H4
127.9CYP27B1, CYP7A1, NR1H3, NR1H4, NR1I2

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:007085710.0CYP7A1, NR1H4
2bile acid biosynthetic processGO:00066999.9CYP27A1, CYP7A1
3regulation of cholesterol homeostasisGO:20001889.9NR1H3, NR1H4
4triglyceride homeostasisGO:00703289.8NR1H3, NR1H4
5negative regulation of inflammatory responseGO:00507289.8NR1H3, NR1H4
6cholesterol homeostasisGO:00426329.6CYP7A1, NR1H3
7sterol metabolic processGO:00161259.5CYP27A1, CYP7A1, FDX1
8steroid hormone mediated signaling pathwayGO:00434019.5NR1H3, NR1H4, NR1I2
9transcription initiation from RNA polymerase II promoterGO:00063679.4NR1H3, NR1H4, NR1I2
10intracellular receptor signaling pathwayGO:00305229.4NR1H3, NR1H4, NR1I2
11oxidation-reduction processGO:00551148.3CYP27A1, CYP27B1, CYP7A1, FDX1, HMGCR

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.5NR1H3, NR1H4, NR1I2
2steroid hormone receptor activityGO:00037079.5NR1H3, NR1H4, NR1I2
3transcription coactivator activityGO:00037139.2NR1H3, NR1H4, NR1I2
4heme bindingGO:00200378.8CYP27A1, CYP27B1, CYP7A1
5iron ion bindingGO:00055068.7CYP27A1, CYP27B1, CYP7A1, FDX1

Sources for Cerebrotendinous Xanthomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet