PedAM

Pediatric Disease Annotations & Medicines


	smith-lemli-opitz syndrome

Disease ID	522
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 lemli opitz syndrome smith syndrome smith syndromes 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
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) DHCR7 \| 1717 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 348 \| APOE \| infer 1717 \| DHCR7 \| infer 1719 \| DHFR \| infer 3949 \| LDLR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:90) 1595 \| CYP51A1 \| DISEASES 3028 \| HSD17B10 \| DISEASES 158 \| ADSL \| DISEASES 412 \| STS \| DISEASES 2222 \| FDFT1 \| DISEASES 55824 \| PAG1 \| DISEASES 1666 \| DECR1 \| DISEASES 55033 \| FKBP14 \| DISEASES 4598 \| MVK \| DISEASES 2735 \| GLI1 \| DISEASES 3623 \| INHA \| DISEASES 51141 \| INSIG2 \| DISEASES 348 \| APOE \| DISEASES 51478 \| HSD17B7 \| DISEASES 8728 \| ADAM19 \| DISEASES 6496 \| SIX3 \| DISEASES 9360 \| PPIG \| DISEASES 6307 \| MSMO1 \| DISEASES 8455 \| ATRN \| DISEASES 50937 \| CDON \| DISEASES 3931 \| LCAT \| DISEASES 5443 \| POMC \| DISEASES 7879 \| RAB7A \| DISEASES 4547 \| MTTP \| DISEASES 22937 \| SCAP \| DISEASES 8034 \| SLC25A16 \| DISEASES 1583 \| CYP11A1 \| DISEASES 5373 \| PMM2 \| DISEASES 3930 \| LBR \| DISEASES 27034 \| ACAD8 \| DISEASES 8321 \| FZD1 \| DISEASES 3156 \| HMGCR \| DISEASES 3549 \| IHH \| DISEASES 6010 \| RHO \| DISEASES 6469 \| SHH \| DISEASES 55582 \| KIF27 \| DISEASES 2619 \| GAS1 \| DISEASES 7001 \| PRDX2 \| DISEASES 1581 \| CYP7A1 \| DISEASES 2357 \| FPR1 \| DISEASES 2720 \| GLB1 \| DISEASES 7915 \| ALDH5A1 \| DISEASES 10170 \| DHRS9 \| DISEASES 8630 \| HSD17B6 \| DISEASES 6888 \| TALDO1 \| DISEASES 3992 \| FADS1 \| DISEASES 79641 \| ROGDI \| DISEASES 5034 \| P4HB \| DISEASES 5727 \| PTCH1 \| DISEASES 256933 \| NPB \| DISEASES 668 \| FOXL2 \| DISEASES 3984 \| LIMK1 \| DISEASES 219541 \| MED19 \| DISEASES 857 \| CAV1 \| DISEASES 132884 \| EVC2 \| DISEASES 5015 \| OTX2 \| DISEASES 2918 \| GRM8 \| DISEASES 8481 \| OFD1 \| DISEASES 3638 \| INSIG1 \| DISEASES 1717 \| DHCR7 \| DISEASES 219844 \| HYLS1 \| DISEASES 5625 \| PRODH \| DISEASES 157680 \| VPS13B \| DISEASES 6721 \| SREBF2 \| DISEASES 9095 \| TBX19 \| DISEASES 36 \| ACADSB \| DISEASES 3158 \| HMGCS2 \| DISEASES 3283 \| HSD3B1 \| DISEASES 3738 \| KCNA3 \| DISEASES 50814 \| NSDHL \| DISEASES 1718 \| DHCR24 \| DISEASES 8643 \| PTCH2 \| DISEASES 9682 \| KDM4A \| DISEASES 310 \| ANXA7 \| DISEASES 19 \| ABCA1 \| DISEASES 549 \| AUH \| DISEASES 7546 \| ZIC2 \| DISEASES 3980 \| LIG3 \| DISEASES 347527 \| ARSH \| DISEASES 415 \| ARSE \| DISEASES 6736 \| SRY \| DISEASES 54903 \| MKS1 \| DISEASES 374654 \| KIF7 \| DISEASES 174 \| AFP \| DISEASES 3778 \| KCNMA1 \| DISEASES 91147 \| TMEM67 \| DISEASES 4204 \| MECP2 \| DISEASES 10682 \| EBP \| DISEASES 51259 \| TMEM216 \| DISEASES 3949 \| LDLR \| DISEASES
Locus	(Waiting for update.)

Disease ID	522
Disease	smith-lemli-opitz syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:106) HP:0001162 \| Postaxial hand polydactyly HP:0000343 \| Long philtrum HP:0100716 \| Self-injurious behavior HP:0000286 \| Epicanthus HP:0000347 \| Micrognathia HP:0002827 \| Hip dislocation HP:0000154 \| Wide mouth HP:0002251 \| Aganglionic megacolon HP:0005599 \| Hypopigmentation of hair HP:0000518 \| Cataract HP:0008736 \| Hypoplasia of penis HP:0000062 \| Ambiguous genitalia HP:0000647 \| Sclerocornea HP:0000639 \| Nystagmus HP:0001884 \| Talipes calcaneovalgus HP:0002119 \| Ventriculomegaly HP:0002650 \| Scoliosis HP:0007018 \| Attention deficit hyperactivity disorder HP:0005264 \| Abnormality of the gallbladder HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0000499 \| Abnormality of the eyelashes HP:0003027 \| Mesomelia HP:0003312 \| Abnormal form of the vertebral bodies HP:0006501 \| Aplasia/Hypoplasia of the radius HP:0001263 \| Global developmental delay HP:0001600 \| Abnormality of the larynx HP:0002089 \| Pulmonary hypoplasia HP:0001543 \| Gastroschisis HP:0004322 \| Short stature HP:0008678 \| Renal hypoplasia/aplasia HP:0000047 \| Hypospadias HP:0000612 \| Iris coloboma HP:0000682 \| Abnormality of dental enamel HP:0000431 \| Wide nasal bridge HP:0000171 \| Microglossia HP:0000028 \| Cryptorchidism HP:0011069 \| Increased number of teeth HP:0006695 \| Atrioventricular canal defect HP:0000776 \| Congenital diaphragmatic hernia HP:0010880 \| Increased nuchal translucency HP:0001643 \| Patent ductus arteriosus HP:0000494 \| Downslanted palpebral fissures HP:0000212 \| Gingival overgrowth HP:0002360 \| Sleep disturbance HP:0002719 \| Recurrent infections HP:0000772 \| Abnormality of the ribs HP:0009465 \| Ulnar deviation of finger HP:0001262 \| Excessive daytime somnolence HP:0002777 \| Tracheal stenosis HP:0008905 \| Rhizomelia HP:0000057 \| Clitoromegaly HP:0100542 \| Abnormal localization of kidney HP:0000407 \| Sensorineural hearing impairment HP:0002101 \| Abnormal lung lobation HP:0001163 \| Abnormality of the metacarpal bones HP:0000074 \| Ureteropelvic junction obstruction HP:0010297 \| Bifid tongue HP:0004422 \| Biparietal narrowing HP:0007370 \| Aplasia/Hypoplasia of the corpus callosum HP:0007477 \| Abnormal dermatoglyphics HP:0006101 \| Finger syndactyly HP:0001156 \| Brachydactyly syndrome HP:0001510 \| Growth delay HP:0008056 \| Aplasia/Hypoplasia affecting the eye HP:0000486 \| Strabismus HP:0001276 \| Hypertonia HP:0000508 \| Ptosis HP:0001252 \| Muscular hypotonia HP:0007360 \| Aplasia/Hypoplasia of the cerebellum HP:0006482 \| Abnormality of dental morphology HP:0001511 \| Intrauterine growth retardation HP:0000648 \| Optic atrophy HP:0000965 \| Cutis marmorata HP:0000175 \| Cleft palate HP:0000582 \| Upslanted palpebral fissure HP:0004691 \| 2-3 toe syndactyly HP:0002808 \| Kyphosis HP:0000470 \| Short neck HP:0002021 \| Pyloric stenosis HP:0000717 \| Autism HP:0009804 \| Reduced number of teeth HP:0001629 \| Ventricular septal defect HP:0000992 \| Cutaneous photosensitivity HP:0001171 \| Split hand HP:0000126 \| Hydronephrosis HP:0000520 \| Proptosis HP:0001631 \| Atrial septal defect HP:0000501 \| Glaucoma HP:0006288 \| Advanced eruption of teeth HP:0001250 \| Seizures HP:0000003 \| Multicystic kidney dysplasia HP:0001360 \| Holoprosencephaly HP:0009623 \| Proximal placement of thumb HP:0000996 \| Facial capillary hemangioma HP:0000316 \| Hypertelorism HP:0002564 \| Malformation of the heart and great vessels HP:0000453 \| Choanal atresia HP:0000368 \| Low-set, posteriorly rotated ears HP:0001830 \| Postaxial foot polydactyly HP:0008872 \| Feeding difficulties in infancy HP:0010569 \| Elevated 7-dehydrocholesterol HP:0000463 \| Anteverted nares HP:0002020 \| Gastroesophageal reflux HP:0001561 \| Polyhydramnios HP:0006610 \| Wide intermamillary distance
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001734 \| Annular pancreas \| 1 HP:0000733 \| Repetitive movements \| 1 HP:0000992 \| Skin photosensitivity \| 1 HP:0001263 \| Developmental retardation \| 1

Disease ID	522
Disease	smith-lemli-opitz syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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