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	smith lemli opitz syndrome

Disease ID	401
Disease	smith lemli opitz syndrome
Definition	An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Synonym	7-dehydrocholesterol reductase deficiency hyperotosis corticalis generalisata familiaris lethal acrodysgenital syndrome polydactyly, sex reversal, renal hypoplasia, and unilobar lung rsh slo syndrome rsh syndrome rsh syndromes rsh-slo syndrome rsh-slo syndromes rutledge lethal multiple congenital anomaly syndrome slo syndrome slo syndromes slos smith syndrome smith syndromes smith-lemli-opitz syndrome smith-lemli-opitz syndrome (disorder) smith-lemli-opitz syndrome [disease/finding] smith-opitz-inborn syndrome syndrome smith syndrome, rsh syndrome, slo syndromes, rsh syndromes, slo
Orphanet	ORPHANET:818
OMIM	OMIM:270400
DOID	DOID:14692
ICD10	ICD10CM:E78.72
UMLS	C0175694
MeSH	D019082
SNOMED-CT	SNOMEDCT_US_2016_09_01:43929004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0265220 \| pallister-hall syndrome \| 1 C0035304 \| retinal degeneration \| 1 C0020676 \| hypothyroidism \| 1 C0001622 \| hypercortisolism \| 1 C0008370 \| cholestasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1717 \| DHCR7 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 348 \| APOE \| CIPHER 1717 \| DHCR7 \| CIPHER;CTD_human 1719 \| DHFR \| CIPHER 3949 \| LDLR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 19 \| ABCA1 \| 2.252 \| DISEASES 36 \| ACADSB \| 2.842 \| DISEASES 174 \| AFP \| 1.891 \| DISEASES 310 \| ANXA7 \| 1.32 \| DISEASES 415 \| ARSE \| 1.35 \| DISEASES 347527 \| ARSH \| 1.8 \| DISEASES 549 \| AUH \| 2.795 \| DISEASES 857 \| CAV1 \| 1.2 \| DISEASES 1718 \| DHCR24 \| 5.965 \| DISEASES 1717 \| DHCR7 \| 8.299 \| DISEASES 10682 \| EBP \| 4.588 \| DISEASES 132884 \| EVC2 \| 1.654 \| DISEASES 3992 \| FADS1 \| 1.234 \| DISEASES 668 \| FOXL2 \| 1.034 \| DISEASES 2918 \| GRM8 \| 2.031 \| DISEASES 3158 \| HMGCS2 \| 2.228 \| DISEASES 3283 \| HSD3B1 \| 1.338 \| DISEASES 219844 \| HYLS1 \| 1.949 \| DISEASES 3638 \| INSIG1 \| 1.661 \| DISEASES 3738 \| KCNA3 \| 1.391 \| DISEASES 3778 \| KCNMA1 \| 5.508 \| DISEASES 9682 \| KDM4A \| 2.41 \| DISEASES 374654 \| KIF7 \| 2.329 \| DISEASES 3949 \| LDLR \| 1.281 \| DISEASES 3980 \| LIG3 \| 1.511 \| DISEASES 3984 \| LIMK1 \| 1.487 \| DISEASES 4204 \| MECP2 \| 1.305 \| DISEASES 219541 \| MED19 \| 2.201 \| DISEASES 54903 \| MKS1 \| 2.42 \| DISEASES 256933 \| NPB \| 2.006 \| DISEASES 50814 \| NSDHL \| 3.739 \| DISEASES 8481 \| OFD1 \| 2.046 \| DISEASES 5015 \| OTX2 \| 1.524 \| DISEASES 5034 \| P4HB \| 1.001 \| DISEASES 5625 \| PRODH \| 1.423 \| DISEASES 5727 \| PTCH1 \| 1.247 \| DISEASES 8643 \| PTCH2 \| 1.786 \| DISEASES 79641 \| ROGDI \| 2.894 \| DISEASES 6721 \| SREBF2 \| 2.012 \| DISEASES 6736 \| SRY \| 1.205 \| DISEASES 6888 \| TALDO1 \| 1.711 \| DISEASES 9095 \| TBX19 \| 2.16 \| DISEASES 51259 \| TMEM216 \| 2.762 \| DISEASES 91147 \| TMEM67 \| 2.065 \| DISEASES 157680 \| VPS13B \| 2.464 \| DISEASES 7546 \| ZIC2 \| 1.931 \| DISEASES
Locus	(Waiting for update.)

Disease ID	401
Disease	smith lemli opitz syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0002664 \| Neoplasia \| 1 HP:0001578 \| Hypercortisolism \| 1 HP:0001548 \| Overgrowth \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001734 \| Annular pancreas \| 1 HP:0000992 \| Skin photosensitivity \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0011968 \| Feeding difficulties \| 1 HP:0001396 \| Cholestasis \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0000733 \| Repetitive movements \| 1

Disease ID	401
Disease	smith lemli opitz syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
DHCR7	c.964-1G>C	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
DHCR7	c.964-1G>C58	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
DHCR7	p.M1V	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

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

All Snps(Total Genotypes:37)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104886033	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444952	T	C
rs104886035	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444163	G	A
rs104886039	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444022	G	A
rs104894212	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71438966	C	A
rs104894213	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71441400	C	T
rs104894213	11078571	1717	DHCR7	umls:C0175694	BeFree	Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.	0.61036355	2000	DHCR7	11	71441400	C	T
rs104894213	16497572	1717	DHCR7	umls:C0175694	BeFree	In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations.	0.61036355	2006	DHCR7	11	71441400	C	T
rs11555217	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71441401	C	T,G
rs121909764	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71438980	C	T
rs121909765	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437909	G	A
rs121909766	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437936	T	C
rs121909767	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444950	C	T
rs121909768	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435748	C	T,A
rs138659167	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435840	C	A,G
rs142808899	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437868	C	A,T
rs143312232	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71441392	G	A,C
rs28938174	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71442319	T	A
rs28938174	11427181	1717	DHCR7	umls:C0175694	UNIPROT	Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.	0.61036355	2001	DHCR7	11	71442319	T	A
rs28939698	11427181	1717	DHCR7	umls:C0175694	UNIPROT	Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.	0.61036355	2001	NA	NA	NA	NA	NA
rs398123607	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437934	C	T
rs61757582	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435593	G	A
rs750345068	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444203	C	T
rs775034584	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435377	A	G
rs779709646	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435664	C	A,T
rs786200926	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71442260	T	A
rs80338853	14981719	1717	DHCR7	umls:C0175694	BeFree	Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.	0.61036355	2004	DHCR7	11	71444036	G	A
rs80338853	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71444036	G	A
rs80338855	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71441347	G	C,A
rs80338856	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71438986	G	A
rs80338857	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71438985	C	T
rs80338858	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437869	G	C,A
rs80338859	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435827	C	A
rs80338859	16497572	1717	DHCR7	umls:C0175694	BeFree	In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations.	0.61036355	2006	DHCR7	11	71435827	C	A
rs80338860	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435749	G	A
rs80338862	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435575	C	T
rs80338863	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71437944	C	G
rs80338864	NA	1717	DHCR7	umls:C0175694	CLINVAR	NA	0.61036355	NA	DHCR7	11	71435461	C	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:0)
(Waiting for update.)

Disease ID	401
Disease	smith lemli opitz syndrome
Case	(Waiting for update.)