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encyclopedia of Rare Disease Annotation for Precision Medicine

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	sitosterolemia

Disease ID	1246
Disease	sitosterolemia
Definition	An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
Synonym	phytosterolemia plant sterol storage disease pseudohomozygous familial hypercholesterolemia sitosterolaemia sitosterolemia (disorder) stsl
Orphanet	ORPHANET:2882
OMIM	OMIM:210250
UMLS	C0342907
SNOMED-CT	SNOMEDCT_US_2016_09_01:238104009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0020443 \| hypercholesterolemia \| 1 C0041408 \| turner syndrome \| 1 C0004153 \| atherosclerosis \| 1 C1510429 \| entrapment neuropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 64240 \| ABCG5 \| CTD_human;ORPHANET;UNIPROT 64241 \| ABCG8 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 19 \| ABCA1 \| 3.555 \| DISEASES 4363 \| ABCC1 \| 1.982 \| DISEASES 1244 \| ABCC2 \| 2.015 \| DISEASES 9619 \| ABCG1 \| 3.76 \| DISEASES 31 \| ACACA \| 1.407 \| DISEASES 27329 \| ANGPTL3 \| 1.965 \| DISEASES 344 \| APOC2 \| 1.568 \| DISEASES 22796 \| COG2 \| 1.91 \| DISEASES 1718 \| DHCR24 \| 2.734 \| DISEASES 1832 \| DSP \| 1.229 \| DISEASES 338328 \| GPIHBP1 \| 2.399 \| DISEASES 55174 \| INTS10 \| 3.62 \| DISEASES 3949 \| LDLR \| 2.044 \| DISEASES 26119 \| LDLRAP1 \| 3.422 \| DISEASES 3988 \| LIPA \| 1.589 \| DISEASES 29116 \| MYLIP \| 2.46 \| DISEASES 23218 \| NBEAL2 \| 1.788 \| DISEASES 256933 \| NPB \| 2.224 \| DISEASES 6280 \| S100A9 \| 1.05 \| DISEASES 51128 \| SAR1B \| 2.471 \| DISEASES 91137 \| SLC25A46 \| 2.09 \| DISEASES 140803 \| TRPM6 \| 2.02 \| DISEASES 7391 \| USF1 \| 1.102 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) ABCG5 \| 2p21 ABCG8 \| 2p21

Disease ID	1246
Disease	sitosterolemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0040185 \| Macrothrombocytopenia \| 2 HP:0012181 \| Entrapment neuropathy \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0003124 \| Elevated serum cholesterol \| 1 HP:0001114 \| Fatty deposits on eyelids \| 1 HP:0004416 \| Precocious atherosclerosis \| 1

Disease ID	1246
Disease	sitosterolemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852987	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43872094	G	A,T
rs137852988	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43875377	G	A
rs137852989	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43877865	C	G
rs137852990	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43852692	G	A
rs137852990	11452359	64241	ABCG8	umls:C0342907	UNIPROT	Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.	0.56	2001	ABCG8	2	43852692	G	A
rs137852991	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43873809	C	T
rs137852992	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43877591	T	G
rs137852993	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43852483	C	A
rs137854891	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8;LOC102725159	2	43846309	C	G
rs201690654	11452359	64241	ABCG8	umls:C0342907	UNIPROT	Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.	0.56	2001	ABCG8	2	43875286	G	T
rs387906323	NA	64241	ABCG8	umls:C0342907	CLINVAR	NA	0.56	NA	ABCG8	2	43851808	C	-

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:0)
(Waiting for update.)

Disease ID	1246
Disease	sitosterolemia
Case	(Waiting for update.)

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