PedAM

Pediatric Disease Annotations & Medicines


	cerebrotendinous xanthomatosis

Disease ID	85
Disease	cerebrotendinous xanthomatosis
Definition	An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Synonym	bogaert-scherer-epstein disease, van cerebral cholesterinoses cerebral cholesterinosis cerebrotendinous cholesterinosis cerebrotendinous xanthomatoses cholestanol storage disease cholestanol storage disease (disorder) cholestanolosis ctx - cerebrotendinous xanthomatosis disease, van bogaert-scherer-epstein van bogaert scherer epstein dis van bogaert scherer epstein disease van bogaert-scherer-epstein disease van bogaert-scherer-epstein syndrome von bogaert disease xanthomatoses, cerebrotendinous xanthomatosis, cerebrotendinous xanthomatosis, cerebrotendinous [disease/finding]
Orphanet	ORPHANET:909
OMIM	OMIM:213700
DOID	DOID:4810
UMLS	C0238052
MeSH	D019294
SNOMED-CT	SNOMEDCT_US_2016_09_01:63246000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0155626 \| acute myocardial infarction \| 1 C0152025 \| polyneuropathy \| 1 C0013421 \| dystonia \| 1 C0086543 \| cataract \| 1 C0027051 \| myocardial infarct \| 1 C0014544 \| epilepsy \| 1 C0272286 \| immune thrombocytopenia \| 1 C0027051 \| myocardial infarction \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CYP27A1 \| 1593 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 1595 \| CYP51A1 \| DISEASES 7414 \| VCL \| DISEASES 1414 \| CRYBB1 \| DISEASES 6554 \| SLC10A1 \| DISEASES 1666 \| DECR1 \| DISEASES 59 \| ACTA2 \| DISEASES 1411 \| CRYBA1 \| DISEASES 1410 \| CRYAB \| DISEASES 1594 \| CYP27B1 \| DISEASES 3670 \| ISL1 \| DISEASES 338 \| APOB \| DISEASES 335 \| APOA1 \| DISEASES 9409 \| PEX16 \| DISEASES 6718 \| AKR1D1 \| DISEASES 5184 \| PEPD \| DISEASES 6310 \| ATXN1 \| DISEASES 8431 \| NR0B2 \| DISEASES 79727 \| LIN28A \| DISEASES 6927 \| HNF1A \| DISEASES 1593 \| CYP27A1 \| DISEASES 7274 \| TTPA \| DISEASES 2230 \| FDX1 \| DISEASES 2581 \| GALC \| DISEASES 3290 \| HSD11B1 \| DISEASES 10858 \| CYP46A1 \| DISEASES 8647 \| ABCB11 \| DISEASES 1356 \| CP \| DISEASES 2651 \| GCNT2 \| DISEASES 1181 \| CLCN2 \| DISEASES 3073 \| HEXA \| DISEASES 5428 \| POLG \| DISEASES 4240 \| MFGE8 \| DISEASES 3156 \| HMGCR \| DISEASES 1409 \| CRYAA \| DISEASES 79443 \| FYCO1 \| DISEASES 83592 \| AKR1E2 \| DISEASES 1581 \| CYP7A1 \| DISEASES 2990 \| GUSB \| DISEASES 8419 \| BFSP2 \| DISEASES 9420 \| CYP7B1 \| DISEASES 10170 \| DHRS9 \| DISEASES 3291 \| HSD11B2 \| DISEASES 1582 \| CYP8B1 \| DISEASES 1555 \| CYP2B6 \| DISEASES 2318 \| FLNC \| DISEASES 6667 \| SP1 \| DISEASES 55328 \| RNLS \| DISEASES 8856 \| NR1I2 \| DISEASES 1576 \| CYP3A4 \| DISEASES 347 \| APOD \| DISEASES 55750 \| AGK \| DISEASES 337 \| APOA4 \| DISEASES 1969 \| EPHA2 \| DISEASES 56980 \| PRDM10 \| DISEASES 617 \| BCS1L \| DISEASES 9361 \| LONP1 \| DISEASES 336 \| APOA2 \| DISEASES 1718 \| DHCR24 \| DISEASES 6342 \| SCP2 \| DISEASES 9314 \| KLF4 \| DISEASES 1880 \| GPR183 \| DISEASES 83889 \| WDR87 \| DISEASES 5160 \| PDHA1 \| DISEASES 1130 \| LYST \| DISEASES 3778 \| KCNMA1 \| DISEASES 10062 \| NR1H3 \| DISEASES 5830 \| PEX5 \| DISEASES 6513 \| SLC2A1 \| DISEASES 629 \| CFB \| DISEASES 4700 \| NDUFA6 \| DISEASES 2317 \| FLNB \| DISEASES 9971 \| NR1H4 \| DISEASES 4566 \| MT-TK \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CYP27A1 \| 2q35

Disease ID	85
Disease	cerebrotendinous xanthomatosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:54) HP:0001332 \| Dystonia HP:0001373 \| Joint dislocation HP:0000738 \| Hallucinations HP:0000787 \| Nephrolithiasis HP:0002514 \| Cerebral calcification HP:0001324 \| Muscle weakness HP:0001337 \| Tremor HP:0000708 \| Behavioral abnormality HP:0002014 \| Diarrhea HP:0001396 \| Cholestasis HP:0003107 \| Abnormality of cholesterol metabolism HP:0009830 \| Peripheral neuropathy HP:0001114 \| Fatty deposits on eyelids HP:0001114 \| Xanthelasma HP:0002353 \| EEG abnormality HP:0001272 \| Cerebellar atrophy HP:0001251 \| Ataxia HP:0002621 \| Atherosclerosis HP:0000504 \| Abnormality of vision HP:0001249 \| Mental retardation HP:0010874 \| Tendon xanthomatosis HP:0001081 \| Gallstones HP:0001250 \| Seizures HP:0000478 \| Abnormality of the eye HP:0010845 \| EEG: generalised slow activity HP:0001257 \| Spasticity HP:0002059 \| Degeneration of cerebrum HP:0007256 \| Abnormal pyramidal signs HP:0100291 \| Abnormality of central somatosensory evoked potentials HP:0002376 \| Developmental regression HP:0007024 \| Pseudobulbar palsy HP:0000939 \| Osteoporosis HP:0000726 \| Dementia HP:0000746 \| Delusions HP:0100321 \| Abnormality of the dentate nucleus HP:0000716 \| Depression HP:0003124 \| Hypercholesterolemia HP:0002518 \| Abnormality of the periventricular white matter HP:0002167 \| Neurological speech impairment HP:0000991 \| Xanthomatosis HP:0002024 \| Malabsorption HP:0002071 \| Abnormality of extrapyramidal motor function HP:0003482 \| EMG: axonal abnormality HP:0000518 \| Cataract HP:0009830 \| Peripheral neuritis HP:0001347 \| Hyperreflexia HP:0001658 \| Myocardial infarction HP:0000543 \| Pale optic disc HP:0001249 \| Intellectual disability HP:0001681 \| Angina pectoris HP:0001387 \| Joint stiffness HP:0000738 \| Sensory hallucination HP:0002093 \| progressive respiratory failure HP:0001336 \| Myoclonus
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0001300 \| Parkinsonism \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0100561 \| Spinal cord lesion \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0001332 \| Dystonia \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0001973 \| Autoimmune thrombocytopenia \| 1 HP:0000518 \| Cataract \| 1

Disease ID	85
Disease	cerebrotendinous xanthomatosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C2678504 \| osteoporosis C1963826 \| mitochondrial enzyme deficiency C1956346 \| coronary artery disease C0302314 \| xanthomata C0302314 \| xanthomas C0270922 \| demyelinating peripheral neuropathy C0242422 \| parkinsonism C0086437 \| joint hypermobility C0031117 \| peripheral neuropathy C0027709 \| nephrocalcinosis C0010068 \| coronary heart disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0302314 \| xanthomas \| 1 C0242422 \| parkinsonism \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:52)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908096	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814186	C	A,T
rs121908097	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814702	G	A
rs121908098	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814701	C	T
rs121908099	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814409	G	A
rs121908099	9186905	1593	CYP27A1	umls:C0238052	UNIPROT	Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.	0.517257057	1997	CYP27A1	2	218814409	G	A
rs121908102	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218813095	C	T
rs200553205	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218813096	G	A,C
rs200883871	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814696	G	C
rs201114717	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809700	C	G,T
rs201346271	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812421	G	C
rs376230356	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809701	G	A
rs397515353	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812923	G	A
rs397515354	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812750	G	A,C
rs397515355	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814459	G	A
rs397515356	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218813023	TGGCC	-
rs41272687	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814154	C	T
rs573951598	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814408	C	T
rs587778777	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814188	G	A
rs587778778	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814187	G	A
rs587778779	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814379	G	T
rs587778780	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814397	C	G
rs587778781	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814404	C	G
rs587778782	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814417	G	T
rs587778783	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814433	T	A
rs587778784	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814463	G	T
rs587778785	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814544	G	A
rs587778787	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814683	C	T
rs587778790	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809626	C	-
rs587778793	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809676	C	-
rs587778794	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809690	GTACCCA	-
rs587778795	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809754	G	A
rs587778796	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809756	G	T
rs587778797	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809768	G	A
rs587778800	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812358	G	T
rs587778802	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218782187	-	C
rs587778804	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812551	G	T
rs587778807	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218782255	G	-
rs587778808	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812657	C	A
rs587778810	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812684	G	A
rs587778812	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812724	T	-
rs587778815	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812942	A	-
rs587778818	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809731	G	A
rs72551312	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809730	C	T
rs72551313	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218809755	G	A
rs72551314	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812250	C	T
rs72551315	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812596	C	T
rs72551316	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812650	C	T
rs72551317	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812681	A	G
rs72551318	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812713	C	G,T
rs72551319	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218812929	A	T
rs72551320	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814064	A	G
rs72551322	NA	1593	CYP27A1	umls:C0238052	CLINVAR	NA	0.517257057	NA	CYP27A1	2	218814716	C	A,G,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001300	Parkinsonism	MP:0005402	abnormal action potential;HP:0001677	Coronary artery disease

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)