Smith-Lemli-Opitz Syndrome [Smithův-Lemliho-Opitzův syndrom]

topical
30
Terms

deficit 7-dehydrocholesterolreduktasy
deficit 7-dehydrocholesterolreduktázy
SLO syndrom
SLOS
Smithův-Lemliho-Opitzův syndrom typ I
Smithův-Lemliho-Opitzův syndrom typ II
Smithův-Lemliho-Opitzův syndrom typu I
Smithův-Lemliho-Opitzův syndrom typu II
Smithův-Lemliův-Opitzův syndrom
syndrom RSH

 

7-Dehydrocholesterol Reductase Deficiency
Hyperotosis Corticalis Generalisata Familiaris
Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
RSH Syndrome
RSH-SLO Syndrome
Rutledge Friedman Harrod Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
SLO Syndrome
Smith Lemli Opitz syndrome, type 1
Smith-Lemli-Opitz Syndrome, Type 1
Smith-Lemli-Opitz Syndrome, Type 2
Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type II

Persistent link   https://www.medvik.cz/link/D019082
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.

DUI
D019082 MeSH Browser
CUI
M0028480
Previous indexing
Abnormalities, Multiple (1967-1995)
History note
1996
Public note
1996

Allowable subheadings

BL
blood 3
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
DI
diagnosis 15
DG
diagnostic imaging
DH
diet therapy 2
DT
drug therapy
EC
economics
EM
embryology 1
EN
enzymology 1
EP
epidemiology
EH
ethnology
ET
etiology 5
GE
genetics 10
HI
history 1
IM
immunology
ME
metabolism 5
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 6
PP
physiopathology 3
PC
prevention & control
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 4
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.224 Barth Syndrome 6
C16.320.565.398.450 Hyperlipidemia, Familial Combined 68
C16.320.565.398.465 Hyperlipoproteinemia Type I 21
C16.320.565.398.481 Hyperlipoproteinemia Type II 456
C16.320.565.398.483 Hyperlipoproteinemia Type III 19
C16.320.565.398.487 Hyperlipoproteinemia Type IV 14
C16.320.565.398.493 Hyperlipoproteinemia Type V 6
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.745 Lipodystrophy, Congenital Generalized 1
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome 30
C16.320.565.398.925 Xanthomatosis, Cerebrotendinous
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
C16.320.565.925.249 Adrenal Hyperplasia, Congenital 226
C16.320.565.925.324 Antley-Bixler Syndrome Phenotype 1
C16.320.565.925.400 Ichthyosis, X-Linked 9
C16.320.565.925.500 Mineralocorticoid Excess Syndrome, Apparent 2
C16.320.565.925.875 Smith-Lemli-Opitz Syndrome 30
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.500 Dyslipidemias 1 652
C18.452.584.500.500 Hyperlipidemias 1 238
C18.452.584.500.875 Hypolipoproteinemias 35
C18.452.584.500.937 Smith-Lemli-Opitz Syndrome 30
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.224 Barth Syndrome 6
C18.452.584.563.450 Hyperlipidemia, Familial Combined 68
C18.452.584.563.465 Hyperlipoproteinemia Type I 21
C18.452.584.563.481 Hyperlipoproteinemia Type II 456
C18.452.584.563.483 Hyperlipoproteinemia Type III 19
C18.452.584.563.487 Hyperlipoproteinemia Type IV 14
C18.452.584.563.493 Hyperlipoproteinemia Type V 6
C18.452.584.563.497 Hypobetalipoproteinemia, Familial, Apolipoprotein B 1
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.745 Lipodystrophy, Congenital Generalized 1
C18.452.584.563.798 Lipodystrophy, Familial Partial 1
C18.452.584.563.824 Shwachman-Diamond Syndrome 2
C18.452.584.563.850 Smith-Lemli-Opitz Syndrome 30
C18.452.584.563.925 Xanthomatosis, Cerebrotendinous
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.224 Barth Syndrome 6
C18.452.648.398.450 Hyperlipidemia, Familial Combined 68
C18.452.648.398.465 Hyperlipoproteinemia Type I 21
C18.452.648.398.481 Hyperlipoproteinemia Type II 456
C18.452.648.398.483 Hyperlipoproteinemia Type III 19
C18.452.648.398.487 Hyperlipoproteinemia Type IV 14
C18.452.648.398.493 Hyperlipoproteinemia Type V 6
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.745 Lipodystrophy, Congenital Generalized 1
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome 30
C18.452.648.398.925 Xanthomatosis, Cerebrotendinous
C18.452.648.925 Steroid Metabolism, Inborn Errors 7
C18.452.648.925.249 Adrenal Hyperplasia, Congenital 226
C18.452.648.925.324 Antley-Bixler Syndrome Phenotype 1
C18.452.648.925.400 Ichthyosis, X-Linked 9
C18.452.648.925.500 Mineralocorticoid Excess Syndrome, Apparent 2
C18.452.648.925.875 Smith-Lemli-Opitz Syndrome 30

Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Disease MeSH Browser

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