MCID: SMT004
MIFTS: 70

Smith-Lemli-Opitz Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Respiratory diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 53 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Rsh Syndrome 53 23 49 24 55 71
Slos 53 23 49 24 55 71
Slo Syndrome 53 23 49 24 71
Rutledge Lethal Multiple Congenital Anomaly Syndrome 53 12 49 71
7-Dehydrocholesterol Reductase Deficiency 49 24 55 69
Lethal Acrodysgenital Syndrome 53 49
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 49
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 53
Smith-Lemli-Opitz Syndrome, Type Ii 69
Smith-Lemli-Opitz Syndrome Type 2 28
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
estimated incidence 1/20,000 - 1/40,000


HPO:

31
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 270400
Disease Ontology 12 DOID:14692
ICD10 32 E78.72
MeSH 41 D019082
NCIt 46 C85071
SNOMED-CT 64 43929004
Orphanet 55 ORPHA818
MESH via Orphanet 42 D019082
UMLS via Orphanet 70 C0175694 C2713347
ICD10 via Orphanet 33 Q87.1
KEGG 36 H00161
SNOMED-CT via HPO 65 204962002 82525005 258211005 more

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 53 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). (270400)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to xanthomatosis and cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome, and has symptoms including seizures, excessive daytime somnolence and hypertelorism. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 71 Smith-Lemli-Opitz syndrome: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

NIH Rare Diseases : 49 Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern. Last updated: 3/13/2013

Genetics Home Reference : 24 Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

Diseases related to Smith-Lemli-Opitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.7 APOE HMGCR LDLR
2 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.4
3 lathosterolosis 11.8
4 opitz gbbb syndrome, type i 11.6
5 van buchem disease 11.4
6 greenberg dysplasia 11.4
7 retinitis 10.6
8 retinal degeneration 10.6
9 hirschsprung disease 1 10.5
10 blood group, i system 10.5
11 autism 10.5
12 aging 10.5
13 cataract 10.5
14 polydactyly 10.4
15 holoprosencephaly 10.4
16 autism spectrum disorder 10.4
17 heart disease 10.4
18 neuronitis 10.4
19 malignant hyperthermia 10.4
20 pallister-hall syndrome 10.2
21 pancreas, annular 10.2
22 chromosome 2q35 duplication syndrome 10.2
23 down syndrome 10.2
24 renal hypodysplasia/aplasia 1 10.2
25 cerebrotendinous xanthomatosis 10.2
26 chondrodysplasia punctata syndrome 10.2
27 hydrolethalus syndrome 1 10.2
28 meckel syndrome, type 1 10.2
29 chromosome 16p13.3 deletion syndrome, proximal 10.2
30 46,xy sex reversal 3 10.2
31 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
32 pulmonary hypertension 10.2
33 hepatitis 10.2
34 sclerocornea 10.2
35 cholestasis 10.2
36 polyneuropathy 10.2
37 hypothyroidism 10.2
38 sex differentiation disease 10.2
39 cerebritis 10.2
40 pseudohermaphroditism 10.2
41 adrenal gland hyperfunction 10.2
42 conjunctivitis 10.2
43 achalasia 10.2
44 5-alpha reductase deficiency 10.2
45 dwarfism 10.2
46 germ cells tumors 10.2
47 precocious puberty 10.2
48 pulmonary vein stenosis 10.2
49 streptococcal group a invasive disease 10.2
50 mixed germ cell tumor 10.2

Graphical network of the top 20 diseases related to Smith-Lemli-Opitz Syndrome:



Diseases related to Smith-Lemli-Opitz Syndrome

Symptoms & Phenotypes for Smith-Lemli-Opitz Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
vomiting
pyloric stenosis
poor suck
malrotation

Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Growth Other:
failure to thrive

Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Head And Neck Mouth:
cleft palate
hypoplastic tongue
broad alveolar margins

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta

Skeletal Feet:
metatarsus adductus
talipes calcaneovalgus
postaxial polydactyly
short, broad toes
syndactyly of second and third toes
more
Skeletal Pelvis:
hip dislocation
hip subluxation

Head And Neck Teeth:
dental crowding
large central front teeth

Skin Nails Hair Skin:
eczema
facial capillary hemangioma
severe photosensitivity

Genitourinary Ureters:
ureteropelvic junction obstruction

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

Neurologic Central Nervous System:
seizures
hydrocephalus
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
bifid scrotum
micropenis
hypoplastic scrotum
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Prenatal Manifestations Movement:
decreased fetal movement

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Respiratory Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Growth Weight:
birth weight <2500gm

Skin Nails Hair Hair:
blonde hair


Clinical features from OMIM:

270400

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

55 31 (show top 50) (show all 156)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 excessive daytime somnolence 55 31 frequent (33%) Frequent (79-30%) HP:0001262
3 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
4 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
5 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
6 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
7 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
9 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
10 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
12 self-injurious behavior 55 31 frequent (33%) Frequent (79-30%) HP:0100716
13 gingival overgrowth 55 31 frequent (33%) Frequent (79-30%) HP:0000212
14 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
15 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
16 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
17 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
18 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
19 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
20 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
21 short stature 55 31 Very frequent (99-80%) HP:0004322
22 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
23 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
24 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
25 abnormality of the gallbladder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005264
26 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
27 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
28 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
29 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
30 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
31 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
32 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
33 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
34 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
35 autism 55 31 frequent (33%) Frequent (79-30%) HP:0000717
36 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
37 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
38 wide intermamillary distance 55 31 frequent (33%) Frequent (79-30%) HP:0006610
39 abnormal dermatoglyphics 55 31 hallmark (90%) Very frequent (99-80%) HP:0007477
40 atrial septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001631
41 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
42 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
43 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
44 abnormality of the eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000499
45 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
46 hypopigmentation of hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0005599
47 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
48 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
49 rhizomelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008905
50 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


vomiting, seizures, constipation

GenomeRNAi Phenotypes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 ABCA1 APOE HMGCR LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Smith-Lemli-Opitz Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
2 cardiovascular system MP:0005385 9.91 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
3 digestive/alimentary MP:0005381 9.88 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
4 mortality/aging MP:0010768 9.86 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
5 liver/biliary system MP:0005370 9.72 ABCA1 APOE DHCR7 HMGCR LDLR
6 muscle MP:0005369 9.63 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
7 nervous system MP:0003631 9.5 ABCA1 APOE DHCR7 FDFT1 KCNMA1 LDLR
8 renal/urinary system MP:0005367 9.02 ABCA1 APOE DHCR7 KCNMA1 SHH

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

Drugs for Smith-Lemli-Opitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Anticholesteremic Agents Phase 2
5 Antimetabolites Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
7 Hypolipidemic Agents Phase 2
8 Lipid Regulating Agents Phase 2
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Phytosterol Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
6 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
10 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
11 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
12 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
13 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
14 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

Genetic tests related to Smith-Lemli-Opitz Syndrome:

# Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 28 DHCR7
2 Smith-Lemli-Opitz Syndrome Type 2 28

Anatomical Context for Smith-Lemli-Opitz Syndrome

MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

38
Lung, Kidney, Heart, Eye, Skin, Bone, Tongue

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50) (show all 461)
# Title Authors Year
1
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
2
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
3
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
4
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
5
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
6
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
7
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
8
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
9
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
10
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
11
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
12
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
13
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
14
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
15
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
16
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
17
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/I^-catenin defects in neuronal cholesterol synthesis phenotypes. ( 26998835 )
2016
18
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
19
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. ( 27526097 )
2016
20
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
21
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
22
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
23
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
24
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
25
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
26
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. ( 26347274 )
2015
27
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
28
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
29
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. ( 26492708 )
2015
30
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
31
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
32
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
33
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
34
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
35
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
36
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
37
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
38
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
39
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
40
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
41
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
42
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
43
Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(I93-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. ( 23500538 )
2013
44
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. ( 22718275 )
2013
45
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
46
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2013
47
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
48
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
49
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. ( 23422574 )
2013
50
An efficient synthesis of 4I+- and 4I^-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. ( 23920082 )
2013

Variations for Smith-Lemli-Opitz Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Smith-Lemli-Opitz Syndrome:

71 (show top 50) (show all 53)
# Symbol AA change Variation ID SNP ID
1 DHCR7 p.Pro51Ser VAR_012717 rs104886035
2 DHCR7 p.Thr93Met VAR_012718 rs80338853
3 DHCR7 p.Leu99Pro VAR_012719 rs104886041
4 DHCR7 p.His119Leu VAR_012720 rs28938174
5 DHCR7 p.Leu157Pro VAR_012721 rs753960624
6 DHCR7 p.Gly244Arg VAR_012722 rs121909764
7 DHCR7 p.Ala247Val VAR_012723 rs886041354
8 DHCR7 p.Trp248Cys VAR_012724 rs104894212
9 DHCR7 p.Thr289Ile VAR_012725 rs121909765
10 DHCR7 p.Val326Leu VAR_012726 rs80338859
11 DHCR7 p.Arg352Trp VAR_012727 rs80338860
12 DHCR7 p.Cys380Ser VAR_012728
13 DHCR7 p.Arg404Cys VAR_012729 rs61757582
14 DHCR7 p.Gly410Ser VAR_012730 rs80338862
15 DHCR7 p.Glu448Lys VAR_016975 rs80338864
16 DHCR7 p.Leu68Pro VAR_023148 rs104886038
17 DHCR7 p.Gln107His VAR_023149 rs104886040
18 DHCR7 p.Leu109Pro VAR_023150 rs121912195
19 DHCR7 p.Ser113Cys VAR_023151
20 DHCR7 p.Gly138Val VAR_023152
21 DHCR7 p.Ile145Leu VAR_023153
22 DHCR7 p.Gly147Asp VAR_023154 rs777425801
23 DHCR7 p.Thr154Met VAR_023155 rs143312232
24 DHCR7 p.Ser169Leu VAR_023156 rs80338855
25 DHCR7 p.Trp182Cys VAR_023157
26 DHCR7 p.Trp182Leu VAR_023158
27 DHCR7 p.Cys183Tyr VAR_023159
28 DHCR7 p.Lys198Glu VAR_023160
29 DHCR7 p.Phe235Ser VAR_023161
30 DHCR7 p.Arg242Cys VAR_023162 rs80338856
31 DHCR7 p.Arg242His VAR_023163 rs80338857
32 DHCR7 p.Phe255Leu VAR_023164
33 DHCR7 p.Val281Met VAR_023165 rs398123607
34 DHCR7 p.Ile297Thr VAR_023166
35 DHCR7 p.Cys311Gly VAR_023167
36 DHCR7 p.Cys311Tyr VAR_023168
37 DHCR7 p.Tyr324His VAR_023169
38 DHCR7 p.Gly344Arg VAR_023170
39 DHCR7 p.Arg352Gln VAR_023171 rs121909768
40 DHCR7 p.Val353Ala VAR_023172
41 DHCR7 p.Arg362Cys VAR_023173 rs371302153
42 DHCR7 p.Cys380Arg VAR_023174 rs373306653
43 DHCR7 p.Cys380Tyr VAR_023175 rs779709646
44 DHCR7 p.Ser397Leu VAR_023176 rs773134475
45 DHCR7 p.Arg404Ser VAR_023177
46 DHCR7 p.His405Tyr VAR_023178
47 DHCR7 p.Tyr408His VAR_023179 rs1046560765Smith-Lemli-Opitz
48 DHCR7 p.Gly410Arg VAR_023180
49 DHCR7 p.His426Pro VAR_023181
50 DHCR7 p.Arg443Cys VAR_023182 rs535561852

ClinVar genetic disease variations for Smith-Lemli-Opitz Syndrome:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
2 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
3 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
4 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
5 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
6 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
7 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
8 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Pathogenic/Likely pathogenic rs398123607 GRCh37 Chromosome 11, 71148980: 71148980
9 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
10 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
11 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
12 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
13 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
14 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
15 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
16 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
17 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
18 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
19 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
20 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
21 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
22 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
23 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
24 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
25 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
26 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
27 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
28 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
29 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
30 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
31 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
32 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
33 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
34 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
35 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
36 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh38 Chromosome 11, 71435407: 71435407
37 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
38 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
39 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
40 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
41 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
42 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh37 Chromosome 11, 71146783: 71146783
43 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh38 Chromosome 11, 71435808: 71435808
44 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh38 Chromosome 11, 71435812: 71435812
45 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh37 Chromosome 11, 71146868: 71146868
46 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh37 Chromosome 11, 71148856: 71148856
47 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh37 Chromosome 11, 71148857: 71148857
48 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh38 Chromosome 11, 71438877: 71438877
49 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh37 Chromosome 11, 71149952: 71149952
50 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130

Copy number variations for Smith-Lemli-Opitz Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 34824 11 56400000 76700000 Copy number DHCR7 Smith-Lemli-Opitz syndrome

Expression for Smith-Lemli-Opitz Syndrome

Search GEO for disease gene expression data for Smith-Lemli-Opitz Syndrome.

Pathways for Smith-Lemli-Opitz Syndrome

Pathways related to Smith-Lemli-Opitz Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

Pathways related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2
Show member pathways
12.51 ABCA1 FDFT1 HMGCR HMGCS2
3
Show member pathways
11.99 ABCA1 APOE LDLR
4
Show member pathways
11.51 DHCR7 FDFT1 HMGCR HMGCS2
5
Show member pathways
11.48 DHCR7 FDFT1 HMGCR
6 11.3 FDFT1 HMGCR LDLR
7
Show member pathways
11.09 ABCA1 APOE FDFT1 HMGCR LDLR
8 10.96 APOE LDLR
9
Show member pathways
10.87 FDFT1 HMGCR
10 10.41 ABCA1 HMGCR LDLR

GO Terms for Smith-Lemli-Opitz Syndrome

Cellular components related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.72 APOE DHCR7 FDFT1 HMGCR STS
2 endoplasmic reticulum lumen GO:0005788 9.58 APOE SHH STS
3 endoplasmic reticulum membrane GO:0005789 9.55 ABCA1 DHCR7 FDFT1 HMGCR STS
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 APOE LDLR
5 high-density lipoprotein particle GO:0034364 9.26 ABCA1 APOE
6 intracellular membrane-bounded organelle GO:0043231 9.02 ABCA1 DHCR7 FDFT1 HMGCR STS
7 low-density lipoprotein particle GO:0034362 8.96 APOE LDLR

Biological processes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2 regulation of lipid metabolic process GO:0019216 9.73 ABCA1 FDFT1 HMGCR HMGCS2
3 cholesterol homeostasis GO:0042632 9.7 ABCA1 APOE LDLR
4 regulation of cholesterol biosynthetic process GO:0045540 9.67 DHCR7 FDFT1 HMGCR
5 steroid biosynthetic process GO:0006694 9.67 DHCR7 FDFT1 HMGCR HMGCS2
6 phospholipid transport GO:0015914 9.65 ABCA1 LDLR
7 negative regulation of MAP kinase activity GO:0043407 9.65 APOE HMGCR
8 long-term memory GO:0007616 9.64 APOE LDLR
9 cholesterol transport GO:0030301 9.64 ABCA1 LDLR
10 cholesterol efflux GO:0033344 9.63 ABCA1 APOE
11 positive regulation of endocytosis GO:0045807 9.63 APOE LDLR
12 lipoprotein metabolic process GO:0042157 9.63 ABCA1 APOE LDLR
13 myoblast differentiation GO:0045445 9.62 HMGCR SHH
14 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.62 ABCA1 LDLR
15 cholesterol biosynthetic process GO:0006695 9.62 DHCR7 FDFT1 HMGCR HMGCS2
16 reverse cholesterol transport GO:0043691 9.61 ABCA1 APOE
17 positive regulation of cholesterol efflux GO:0010875 9.61 ABCA1 APOE
18 high-density lipoprotein particle assembly GO:0034380 9.6 ABCA1 APOE
19 phospholipid efflux GO:0033700 9.59 ABCA1 APOE
20 regulation of cholesterol metabolic process GO:0090181 9.58 APOE LDLR
21 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
22 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
23 positive regulation of skeletal muscle tissue development GO:0048643 9.57 HMGCR SHH
24 chylomicron remnant clearance GO:0034382 9.56 APOE LDLR
25 sterol biosynthetic process GO:0016126 9.56 DHCR7 FDFT1 HMGCR HMGCS2
26 regulation of Cdc42 protein signal transduction GO:0032489 9.55 ABCA1 APOE
27 lipoprotein biosynthetic process GO:0042158 9.54 ABCA1 APOE
28 lipoprotein catabolic process GO:0042159 9.51 APOE LDLR
29 cholesterol metabolic process GO:0008203 9.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
30 response to caloric restriction GO:0061771 9.48 APOE LDLR
31 steroid metabolic process GO:0008202 9.23 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2

Molecular functions related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.16 ABCA1 APOE
2 NADP binding GO:0050661 8.96 DHCR7 HMGCR
3 cholesterol transporter activity GO:0017127 8.62 ABCA1 APOE

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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