MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Smith-Lemli-Opitz Syndrome

(UMLS:C0175694)

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.
UMLS ID:: C0175694
MeSH ID:: D019082

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.077.860|C16.320.565.398.850|C16.320.565.925.875

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.584.500.937|C18.452.648.398.850|C18.452.648.925.875

Synonym(s)

Smith-Lemli-Opitz Syndrome

7-Dehydrocholesterol reductase deficiency

RSH syndrome

RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome

SMITH-LEMLI-OPITZ SYNDROME

Smith Lemli Opitz syndrome

Smith syndrome

Smith-Lemli-Opitz

Smith-Lemli-Opitz (SLO) syndrome I (SLOS I)

10.

Smith-Lemli-Opitz syndrome

11.

rsh syndrome

12.

smith lemli opitz syndrome

13.

smith syndrome

14.

smith syndromes

15.

smith-lemli-opitz syndrome

16.

syndrome smith

Associated Drug(s)

	Name	Reference(s)	Data Source
1	24-hydroxycholesterol	11254748	CTD
2	27-hydroxycholesterol	11254748	CTD
3	7-dehydrocholesterol	11254748 27097157	CTD
4	Estriol	17994283	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Hypolipoproteinemias	50%
2	Hyperlipoproteinemia Type IV	48.1%
3	Hyperlipoproteinemia Type V	48.1%
4	Hyperlipidemia, Familial Combined	46.1%
5	Hyperlipoproteinemia Type III	44.2%
6	Brain Diseases, Metabolic, Inborn	40.5%
7	Galactosemias	39.8%
8	Urea Cycle Disorders, Inborn	39.8%
9	Tyrosinemias	39.8%
10	Amino Acid Metabolism, Inborn Errors	39.6%
11	Carbohydrate Metabolism, Inborn Errors	39.6%
12	Metal Metabolism, Inborn Errors	39.6%
13	Progeria	39.6%
14	Lysosomal Storage Diseases	39.6%
15	Peroxisomal Disorders	39.6%
16	Leigh Disease	39.5%
17	Hypoalphalipoproteinemias	37.4%
18	Zellweger Syndrome	37.1%
19	Gaucher Disease	36.9%
20	Hyperphosphaturia	36.8%
21	Glycogen storage disease type II	36.7%
22	Menkes Kinky Hair Syndrome	36%
23	Neuronal Ceroid-Lipofuscinoses	35.7%
24	Ichthyosis, X-Linked	35.7%
25	Pseudohypoparathyroidism	35.3%
26	Adrenoleukodystrophy	35.2%
27	Fabry Disease	34.8%
28	Carbamoyl-Phosphate Synthase I Deficiency Disease	34.3%
29	Refsum Disease	33.5%
30	Homocystinuria	33%
31	Hepatolenticular Degeneration	32.7%
32	Antley-Bixler Syndrome Phenotype	32.4%
33	Sjogren-Larsson Syndrome	31.2%
34	Hyperhomocysteinemia	31%
35	Tay-Sachs Disease	30.9%
36	Niemann-Pick Disease, Type C	30.9%
37	Lactose Intolerance	29.9%
38	Cytochrome-c Oxidase Deficiency	29.8%
39	Mucopolysaccharidosis II	29.4%
40	Cockayne Syndrome	28.7%
41	Mucopolysaccharidosis III	28.7%
42	Amyloid Neuropathies, Familial	28.4%
43	Familial Hypophosphatemic Rickets	27.5%
44	Albinism	27.5%
45	Beckwith-Wiedemann Syndrome	26.9%
46	Wolf-Hirschhorn Syndrome	26.9%
47	Alkaptonuria	26.3%
48	Glycogen Storage Disease	26.3%
49	Hypophosphatasia	26.3%
50	Propionic acidemia	26.3%
51	Dihydropyrimidine Dehydrogenase Deficiency	26.3%
52	Cystinosis	26.3%
53	Werner Syndrome	25.9%
54	CHARGE Syndrome	25.6%
55	Holoprosencephaly	25.2%
56	Bloom Syndrome	24.9%
57	Wasting Syndrome	24.9%
58	Smith-Lemli-Opitz Syndrome	24.9%
59	Smith-Magenis syndrome	24.4%
60	Renal tubular acidosis	24.4%
61	Cri-du-Chat Syndrome	24.2%
62	Down Syndrome	24.2%
63	Trisomy 21	24.2%
64	Lipodystrophy	24%
65	Prader-Willi Syndrome	23.7%
66	Aicardi's syndrome	23.5%
67	Nail-Patella Syndrome	23.3%
68	Ectodermal Dysplasia	22.1%
69	Aplasia Cutis Congenita	22.1%
70	Hypercalcemia	22%
71	Hypocalcemia	22%
72	Milk-Alkali Syndrome	22%
73	Rubinstein-Taybi Syndrome	21.9%
74	Familial Periodic Paralysis	21.3%
75	Marfan Syndrome	21.2%
76	Acid-Base Imbalance	21.1%
77	Calcium Metabolism Disorders	21.1%
78	Iron Metabolism Disorders	21.1%
79	Phosphorus Metabolism Disorders	21.1%
80	Water-Electrolyte Imbalance	21.1%
81	Mitochondrial Diseases	21.1%
82	Glucose Metabolism Disorders	21.1%
83	Renal Aminoacidurias	21%
84	Fanconi Syndrome	21%
85	Pseudohypoaldosteronism	21%
86	Liddle Syndrome	21%
87	Kartagener Syndrome	20.8%
88	MELAS Syndrome	20.7%
89	Glycosuria, Renal	20.6%
90	Glycogen Storage Disease Type I	19.8%
91	Glycogen Storage Disease Type V	19.8%
92	Canavan Disease	19.5%
93	Alexander Disease	19.5%
94	Alstrom Syndrome	19.5%
95	Gout	19.4%
96	Rickets	18.8%
97	Osteopenia	18.7%
98	Brain Diseases, Metabolic	18.5%
99	Polycystic Kidney Diseases	18.2%
100	Xanthomatosis	18.1%
101	Xanthoma	18.1%
102	Cystic Fibrosis	17.5%
103	Congenital Hyperinsulinism	17.2%
104	Fragile X Syndrome	17%
105	Mobius Syndrome	16.5%
106	Porphyrias, Hepatic	16.2%
107	Ataxia Telangiectasia	16.1%
108	Lipomatosis	16%
109	Primary Ciliary Dyskinesia	16%
110	Fanconi Anemia	15.9%
111	Hypokalemic periodic paralysis	15.9%
112	Xeroderma Pigmentosum	15.8%
113	Prune Belly Syndrome	15.8%
114	Waardenburg Syndrome	15.8%
115	Cystinuria	15.7%
116	Neoplastic Syndromes, Hereditary	15.2%
117	Multiple Epiphyseal Dysplasia	14.8%
118	Osteochondrodysplasias	14.8%
119	Pelger-Huet Anomaly	14.8%
120	Myasthenic Syndromes, Congenital	14.8%
121	Hypercholesterolemia	14.5%
122	Hyperlipoproteinemias	14.5%
123	Hypertriglyceridemia	14.5%
124	Arthritis, Gouty	14.4%
125	Anemia, Sickle Cell	14.4%
126	Thalassemia	14.4%
127	Muscular Dystrophy, Duchenne	14.3%
128	Optic Atrophy, Hereditary, Leber	14.2%
129	Lipid Metabolism Disorders	14.1%
130	Dwarfism	13.5%
131	Mitochondrial Encephalomyopathies	13.3%
132	Abnormalities, Drug-Induced	13.1%
133	Situs Inversus	13.1%
134	Muscular Dystrophy	13.1%
135	Osteogenesis Imperfecta	13.1%
136	Williams Syndrome	13%
137	Nutrition Disorders	12.9%
138	Polycystic Kidney, Autosomal Dominant	12.9%
139	Osteomalacia	12.7%
140	Kallmann Syndrome	12.6%
141	Acidosis	12.6%
142	Alkalosis	12.6%
143	Amyloidosis	12.6%
144	Calcinosis	12.6%
145	Hyperglycemia	12.6%
146	Hyperinsulinism	12.6%
147	Hyperkalemia	12.6%
148	Hypernatremia	12.6%
149	Hypoglycemia	12.6%
150	Hypokalemia	12.6%
151	Hyponatremia	12.6%
152	Hypophosphatemia	12.6%
153	Metabolic acidosis	12.6%
154	Iron Overload	12.6%
155	Friedreich Ataxia	12.4%
156	Basal Cell Nevus Syndrome	12.2%
157	Retinal Dysplasia	12.2%
158	Tuberous Sclerosis	12.1%
159	Aniridia	12.1%
160	Nesidioblastosis	12%
161	Wiskott-Aldrich Syndrome	12%
162	Autoimmune Lymphoproliferative Syndrome	12%
163	Epidermolysis Bullosa	11.9%
164	HIV-Associated Lipodystrophy Syndrome	11.9%
165	Eye Abnormalities	11.8%
166	Fetal Diseases	11.8%
167	Cardiovascular Abnormalities	11.8%
168	Angioedemas, Hereditary	11.8%
169	Skin Abnormalities	11.6%
170	Lymphatic Abnormalities	11.6%
171	Congenital Microtia	11.6%
172	Congenital diaphragmatic hernia	11.5%
173	Diabetic Ketoacidosis	11.4%
174	Diabetes Mellitus	11.3%
175	Anencephaly	11.2%
176	Xeroderma	11.2%
177	Dehydration	11.1%
178	Water Intoxication	11.1%
179	POEMS Syndrome	11.1%
180	Myotonic Dystrophy	11%
181	Achlorhydria	11%
182	Osteoporosis	11%
183	Bone Demineralization, Pathologic	11%
184	Post-Traumatic Osteoporosis	11%
185	Celiac Disease	11%
186	Sprue, Tropical	11%
187	Steatorrhea	11%
188	Sprue	11%
189	Rett Syndrome	10.8%
190	Variegate Porphyria	10.7%
191	Acute intermittent porphyria	10.7%
192	Porphyria Cutanea Tarda	10.7%
193	HIV Wasting Syndrome	10.7%
194	Adiposis Dolorosa	10.6%
195	Urogenital Abnormalities	10.6%
196	Familial Mediterranean Fever	10.2%
197	Maxillofacial Abnormalities	10.2%
198	Dural Arteriovenous Fistula	10.2%
199	Classical Lissencephalies and Subcortical Band Heterotopias	10.2%
200	Kernicterus	10.2%
201	Pseudoxanthoma Elasticum	10.2%
202	Dextrocardia	10.1%
203	Mitochondrial Myopathies	9.9%
204	Myelinolysis, Central Pontine	9.9%
205	Renal Osteodystrophy	9.8%
206	Renal rickets	9.8%
207	Glycosuria	9.8%
208	Reye Syndrome	9.8%
209	Hepatic Encephalopathy	9.7%
210	Meconium Aspiration Syndrome	9.7%
211	Sickle Cell Trait	9.7%
212	Turner Syndrome	9.5%
213	Wernicke Encephalopathy	9%
214	Necrobiosis Lipoidica Diabeticorum	8.8%
215	Hyperkeratosis, Epidermolytic	8.7%
216	Deformity	8.6%
217	Scimitar Syndrome	8.6%
218	Acrocephalosyndactylia	8.4%
219	Twins, Conjoined	8.4%
220	Dyslipidemias	8.4%
221	Abnormalities, Radiation-Induced	8.4%
222	Acidosis, Lactic	8.3%
223	Calciphylaxis	8.3%
224	Hemosiderosis	8.3%
225	Ketosis	8.3%
226	Ketonuria	8.3%
227	Ketoacidosis	8.3%
228	Ketonemia	8.3%
229	Vascular calcification	8.3%
230	Charcot-Marie-Tooth Disease	8.2%
231	Acute Chest Syndrome	8.2%
232	Kearns-Sayre syndrome	8.2%
233	Klinefelter Syndrome	8.1%
234	Cutis Laxa	8.1%
235	Retinitis Pigmentosa	8%
236	Pigmentary retinopathy	8%
237	Porokeratosis	8%
238	Keratoderma, Palmoplantar	8%
239	Chronic granulomatous disease	8%
240	Welander Distal Myopathy	7.9%
241	Craniosynostosis	7.7%
242	Syndactyly	7.7%
243	Brachycephaly	7.7%
244	Microcephaly	7.6%
245	Macrocephaly	7.6%
246	Abdominal Cramps	7.5%
247	Amniotic Band Syndrome	7.5%
248	Asphyxia Neonatorum	7.5%
249	Infant, Premature, Diseases	7.5%
250	Infantile Colic	7.5%
251	Anophthalmos	7.4%
252	Anus, Imperforate	7.4%
253	Hydranencephaly	7.4%
254	Microphthalmos	7.4%
255	Neural Tube Defects	7.4%
256	Tethered Cord Syndrome	7.4%
257	Iniencephaly	7.4%
258	Craniorachischisis	7.4%
259	Limb Deformities, Congenital	7.4%
260	Exencephaly	7.4%
261	Septo-Optic Dysplasia	7.4%
262	Craniofacial Abnormalities	7.4%
263	Cortical Dysplasia	7.4%
264	Malformations of Cortical Development	7.4%
265	Anorectal Malformations	7.4%
266	Acidosis, Respiratory	7.3%
267	Alkalosis, Respiratory	7.3%
268	Duane Retraction Syndrome	7.3%
269	Insulin Resistance	7.3%
270	Osteoporosis, Postmenopausal	7.3%
271	Peutz-Jeghers Syndrome	7.2%
272	Myotonia Congenita	7.2%
273	Thrombasthenia	7.2%
274	Antithrombin III Deficiency	7.2%
275	Protein C Deficiency	7.2%
276	Afibrinogenemia	7.2%
277	Dystonia Musculorum Deformans	7.2%
278	Factor VII Deficiency	7.2%
279	Factor X Deficiency	7.2%
280	Factor XII Deficiency	7.2%
281	Hemophilia A	7.2%
282	Activated Protein C Resistance	7.2%
283	Factor II deficiency	7.2%
284	Factor VIII Deficiency	7.2%
285	Factor V deficiency	7.2%
286	Factor XI Deficiency	7.2%
287	Hypoprothrombinemias	7.2%
288	Lafora Disease	7.1%
289	Unverricht-Lundborg Syndrome	7.1%
290	Noonan Syndrome	7.1%
291	Anemia, Diamond-Blackfan	7.1%
292	Cleft Palate	7.1%
293	Child Nutrition Disorders	7%
294	Hypervitaminosis A	7%
295	Infant Nutrition Disorders	7%
296	Malnutrition	7%
297	Porencephaly	6.8%
298	Multiple Endocrine Neoplasia	6.7%
299	Blepharophimosis	6.6%
300	Laryngostenosis	6.6%
301	Mouth Abnormalities	6.6%
302	Gestational Diabetes	6.6%
303	Latent Autoimmune Diabetes in Adults	6.6%
304	Esophageal Atresia	6.6%
305	Intestinal Atresia	6.6%
306	Horseshoe Kidney	6.6%
307	Pectus excavatum	6.6%
308	Congenital Hypothyroidism	6.6%
309	Anemia, Neonatal	6.6%
310	Persistent Fetal Circulation Syndrome	6.6%
311	Diabetes Mellitus, Experimental	6.6%
312	Klippel-Feil Syndrome	6.6%
313	Gastroschisis	6.6%
314	Synostosis	6.6%
315	Dermatitis, Atopic	6.6%
316	Acrodermatitis	6.5%
317	Lymphangiectasis, Intestinal	6.5%
318	Gianotti-Crosti Syndrome	6.5%
319	Umbilical hernia	6.5%
320	Nephrocalcinosis	6.5%
321	Tetany	6.5%
322	Jaw Abnormalities	6.4%
323	Cerebral Amyloid Angiopathy	6.4%
324	Poland Syndrome	6.1%
325	Arthrogryposis	6%
326	Choanal Atresia	6%
327	Tracheobronchomegaly	6%
328	Laryngocele	6%
329	Behcet Syndrome	6%
330	Choledochal Cyst	6%
331	Hermaphroditism	6%
332	Disorders of Sex Development	6%
333	Neonatal Abstinence Syndrome	5.9%
334	Cryptorchidism	5.9%
335	Hypospadias	5.9%
336	Central Nervous System Cysts	5.9%
337	Dandy-Walker Syndrome	5.9%
338	Primary amyloidosis	5.9%
339	Fetal Growth Retardation	5.9%
340	Fetal Hypoxia	5.8%
341	Congenital nystagmus	5.8%
342	Fetal Alcohol Spectrum Disorders	5.8%
343	Toxoplasmosis, Congenital	5.8%
344	Syphilis, Congenital	5.8%
345	Huntington Disease	5.5%
346	Laryngomalacia	5.5%
347	Pectus carinatum	5.4%
348	Hydrops Fetalis	5.4%
349	Papillon-Lefevre Disease	5.4%
350	Bladder Exstrophy	5.4%
351	Epispadias	5.4%
352	Multicystic Dysplastic Kidney	5.4%
353	Amyotrophic Lateral Sclerosis	5.4%
354	Micrognathism	5.3%
355	Pierre Robin Syndrome	5.3%
356	Amelia	5.3%
357	Arachnodactyly	5.3%
358	Ectopia Cordis	5.3%
359	Ectromelia	5.3%
360	Hemimelia	5.3%
361	Meningomyelocele	5.3%
362	Phocomelia	5.3%
363	Sirenomelia	5.3%
364	Spina Bifida	5.3%
365	Polydactyly	5.3%
366	Brachydactyly	5.3%
367	Plagiocephaly	5.3%
368	Lower Extremity Deformities, Congenital	5.3%
369	Upper Extremity Deformities, Congenital	5.3%
370	Single umbilical artery	5.3%
371	Chorioamnionitis	5.3%
372	Nephroblastoma	5.1%
373	Retrognathia	4.9%
374	CREST Syndrome	4.9%
375	Hyperandrogenism	4.8%
376	Genetic Diseases, Inborn	4.8%
377	Adenomatous Polyposis Coli	4.7%
378	Aortic coarctation	4.7%
379	Cor Triatriatum	4.7%
380	Coronary Vessel Anomalies	4.7%
381	Dental Enamel Hypoplasia	4.7%
382	Patent ductus arteriosus	4.7%
383	Ebstein Anomaly	4.7%
384	Heart Septal Defects	4.7%
385	Hypodontia	4.7%
386	Macrostomia	4.7%
387	Meningocele	4.7%
388	Microstomia	4.7%
389	Tetralogy of Fallot	4.7%
390	Transposition of Great Vessels	4.7%
391	Hypoplastic Left Heart Syndrome	4.7%
392	May-Thurner Syndrome	4.7%
393	Encephalocele	4.7%
394	Craniofacial Dysostosis	4.7%
395	Wolff-Parkinson-White Syndrome	4.7%
396	Prognathism	4.6%
397	Denys-Drash Syndrome	4.6%
398	Multiple Endocrine Neoplasia Type 1	4.5%
399	Frontotemporal dementia	4.4%
400	Ophthalmia Neonatorum	4.3%
401	Long QT Syndrome	4.2%
402	Platybasia	4.2%
403	Tricuspid Atresia	4.2%
404	Arrhythmogenic Right Ventricular Dysplasia	4.2%
405	Dermal Sinus	4.2%
406	Spina Bifida Cystica	4.2%
407	Spina Bifida Occulta	4.2%
408	Lissencephaly	4.2%
409	Polymicrogyria	4.2%
410	Pachygyria	4.2%
411	Schizencephaly	4.2%
412	Periventricular Nodular Heterotopia	4.2%
413	Gonadal Dysgenesis	4.2%
414	Bronchomalacia	4.2%
415	Adrenogenital Syndrome	4.2%
416	Tracheomalacia	4.2%
417	Ovotesticular Disorders of Sex Development	4.2%
418	Deficiency Diseases	4.2%
419	Starvation	4.2%
420	Refeeding Syndrome	4.2%
421	Paralysis, Obstetric	4.1%
422	Retinopathy of Prematurity	4.1%
423	Bronchopulmonary Dysplasia	4.1%
424	Aortopulmonary Septal Defect	3.8%
425	Double Outlet Right Ventricle	3.8%
426	Endocardial Cushion Defects	3.8%
427	Myocardial bridging	3.8%
428	Aorticopulmonary Septal Defect	3.8%
429	Respiratory Distress Syndrome, Newborn	3.7%
430	Mandibulofacial Dysostosis	3.4%
431	Romano-Ward Syndrome	3.4%
432	Truncus Arteriosus, Persistent	3.3%
433	Goldenhar Syndrome	3.3%
434	Leukomalacia, Periventricular	3.3%
435	Talipes	3%
436	Obesity	2.9%
437	Arteriovenous fistula	2.8%
438	Kwashiorkor	2.8%
439	Magnesium Deficiency	2.8%
440	Potassium Deficiency	2.8%
441	Protein Deficiency	2.8%
442	Avitaminosis	2.8%
443	Congenital clubfoot	2.8%
444	Vertical Talus	2.8%
445	Hyaline Membrane Disease	2.5%
446	Obesity, Abdominal	2.1%
447	Ascorbic Acid Deficiency	2.1%
448	Vitamin A Deficiency	2.1%
449	Vitamin D Deficiency	2.1%
450	Vitamin E Deficiency	2.1%
451	Marasmus	2.1%
452	Pediatric Obesity	1.9%
453	Folic Acid Deficiency	1.7%
454	Pellagra	1.7%
455	Thiamine Deficiency	1.7%
456	Vitamin B 12 Deficiency	1.7%
457	Vitamin B 6 Deficiency	1.7%
458	Pyridoxine Deficiency	1.7%
459	Vitamin K Deficiency	1.6%
460	Beriberi	1.6%
461	Anemia, Pernicious	1.4%
462	Scurvy	1.4%
463	Subacute Combined Degeneration	1%

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