MetaADEDB 2.0 @ LMMD
Waardenburg Syndrome
(UMLS:C3266898)
Definition:
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
UMLS ID:
C3266898
MeSH ID:
D014849
Classification:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.131.077.938
Synonym(s)
1.
Waardenburg Syndrome
2.
Waardenburg
3.
Waardenburg syndrome
4.
Waardenburg's Syndrome
5.
Waardenburg's syndrome
6.
Waardenburg, types I and II
7.
White forelock syndrome
8.
syndrome waardenburg
9.
van der Hoeve Halbertsona Waardenburg syndrome
10.
waardenburg syndrome
11.
waardenburg's syndrome
12.
waardenburgs syndrome
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1FluoxetineFAERS: 1US FAERS
Similar ADE(s)
NameSemantic Similarity
1Prune Belly Syndrome46.7%
2Beckwith-Wiedemann Syndrome36.7%
3Wolf-Hirschhorn Syndrome36.7%
4Bloom Syndrome31.1%
5Abnormalities, Drug-Induced31%
6Situs Inversus31%
7Smith-Magenis syndrome29.7%
8Cri-du-Chat Syndrome29.1%
9Down Syndrome29.1%
10Trisomy 2129.1%
11CHARGE Syndrome28.8%
12Holoprosencephaly25.6%
13Ectodermal Dysplasia24.4%
14Aplasia Cutis Congenita24.4%
15Prader-Willi Syndrome24.2%
16Nail-Patella Syndrome23.3%
17Mobius Syndrome23%
18Eye Abnormalities22%
19Cardiovascular Abnormalities22%
20Rubinstein-Taybi Syndrome21.8%
21Polycystic Kidney Diseases21%
22Skin Abnormalities20.9%
23Lymphatic Abnormalities20.9%
24Congenital Microtia20.9%
25Congenital diaphragmatic hernia20.2%
26Twins, Conjoined20%
27Genetic Diseases, Inborn18.5%
28POEMS Syndrome18.4%
29Marfan Syndrome18.1%
30Primary Ciliary Dyskinesia18%
31Anencephaly17.4%
32Cockayne Syndrome17.1%
33Aicardi's syndrome16.9%
34Urogenital Abnormalities16.4%
35Smith-Lemli-Opitz Syndrome15.8%
36Polycystic Kidney, Autosomal Dominant15.5%
37Kartagener Syndrome14.1%
38Maxillofacial Abnormalities14.1%
39Dural Arteriovenous Fistula14.1%
40Dextrocardia13.9%
41Anophthalmos13.6%
42Anus, Imperforate13.6%
43Hydranencephaly13.6%
44Microphthalmos13.6%
45Neural Tube Defects13.6%
46Tethered Cord Syndrome13.6%
47Iniencephaly13.6%
48Craniorachischisis13.6%
49Limb Deformities, Congenital13.6%
50Exencephaly13.6%
51Septo-Optic Dysplasia13.6%
52Craniofacial Abnormalities13.6%
53Cortical Dysplasia13.6%
54Malformations of Cortical Development13.6%
55Anorectal Malformations13.6%
56Alstrom Syndrome13.1%
57Fetal Diseases12.2%
58Xeroderma12.2%
59Microcephaly10.7%
60Macrocephaly10.7%
61Basal Cell Nevus Syndrome10.5%
62Williams Syndrome10.5%
63Abdominal Cramps10.3%
64Amniotic Band Syndrome10.3%
65Asphyxia Neonatorum10.3%
66Blepharophimosis10.3%
67Infant, Premature, Diseases10.3%
68Laryngostenosis10.3%
69Mouth Abnormalities10.3%
70Infantile Colic10.3%
71Scimitar Syndrome10.2%
72Esophageal Atresia10.2%
73Intestinal Atresia10.2%
74Horseshoe Kidney10.2%
75Pectus excavatum10.2%
76Zellweger Syndrome10.1%
77Klippel-Feil Syndrome10.1%
78Gastroschisis10.1%
79Synostosis10.1%
80Acrodermatitis10%
81Lymphangiectasis, Intestinal10%
82Gianotti-Crosti Syndrome10%
83Abnormalities, Radiation-Induced10%
84Amelia9.9%
85Arachnodactyly9.9%
86Ectopia Cordis9.9%
87Ectromelia9.9%
88Hemimelia9.9%
89Meningomyelocele9.9%
90Phocomelia9.9%
91Sirenomelia9.9%
92Spina Bifida9.9%
93Polydactyly9.9%
94Brachydactyly9.9%
95Plagiocephaly9.9%
96Lower Extremity Deformities, Congenital9.9%
97Upper Extremity Deformities, Congenital9.9%
98Single umbilical artery9.9%
99Craniosynostosis9.8%
100Syndactyly9.8%
101Brachycephaly9.8%
102Fragile X Syndrome9.7%
103Porencephaly9.7%
104Classical Lissencephalies and Subcortical Band Heterotopias9.2%
105Retinal Dysplasia9.2%
106Aniridia9.1%
107Epidermolysis Bullosa8.9%
108Acrocephalosyndactylia8.7%
109Noonan Syndrome8.6%
110Cystic Fibrosis8.5%
111Arthrogryposis8.3%
112Choanal Atresia8.3%
113Tracheobronchomegaly8.3%
114Laryngocele8.3%
115Choledochal Cyst8.2%
116Hermaphroditism8.2%
117Disorders of Sex Development8.2%
118Cryptorchidism8.1%
119Dermal Sinus8.1%
120Spina Bifida Cystica8.1%
121Spina Bifida Occulta8.1%
122Lissencephaly8.1%
123Polymicrogyria8.1%
124Pachygyria8.1%
125Schizencephaly8.1%
126Hypospadias8.1%
127Periventricular Nodular Heterotopia8.1%
128Central Nervous System Cysts8.1%
129Poland Syndrome8%
130Dandy-Walker Syndrome8%
131Jaw Abnormalities7.9%
132Ichthyosis, X-Linked7.9%
133Turner Syndrome7.8%
134Cleft Palate7.6%
135Aortic coarctation7.4%
136Cor Triatriatum7.4%
137Coronary Vessel Anomalies7.4%
138Dental Enamel Hypoplasia7.4%
139Patent ductus arteriosus7.4%
140Ebstein Anomaly7.4%
141Heart Septal Defects7.4%
142Hypodontia7.4%
143Macrostomia7.4%
144Meningocele7.4%
145Microstomia7.4%
146Tetralogy of Fallot7.4%
147Transposition of Great Vessels7.4%
148Hypoplastic Left Heart Syndrome7.4%
149May-Thurner Syndrome7.4%
150Encephalocele7.4%
151Craniofacial Dysostosis7.4%
152Neoplastic Syndromes, Hereditary7.3%
153Wolff-Parkinson-White Syndrome7.3%
154Klinefelter Syndrome7.1%
155Meconium Aspiration Syndrome6.9%
156Laryngomalacia6.9%
157Anemia, Neonatal6.8%
158Multiple Epiphyseal Dysplasia6.8%
159Osteochondrodysplasias6.8%
160Pelger-Huet Anomaly6.8%
161Persistent Fetal Circulation Syndrome6.8%
162Werner Syndrome6.8%
163Myasthenic Syndromes, Congenital6.8%
164Pectus carinatum6.8%
165Bladder Exstrophy6.7%
166Epispadias6.7%
167Umbilical hernia6.7%
168Pseudoxanthoma Elasticum6.7%
169Familial Mediterranean Fever6.7%
170Multicystic Dysplastic Kidney6.6%
171Micrognathism6.6%
172Pierre Robin Syndrome6.6%
173Charcot-Marie-Tooth Disease6.5%
174Antley-Bixler Syndrome Phenotype6.5%
175Sjogren-Larsson Syndrome6.4%
176Kallmann Syndrome6.3%
177Hyperkeratosis, Epidermolytic6.2%
178Aortopulmonary Septal Defect6.1%
179Double Outlet Right Ventricle6.1%
180Endocardial Cushion Defects6.1%
181Myocardial bridging6.1%
182Aorticopulmonary Septal Defect6.1%
183Xeroderma Pigmentosum6%
184Long QT Syndrome6%
185Platybasia6%
186Tricuspid Atresia6%
187Arrhythmogenic Right Ventricular Dysplasia6%
188Gonadal Dysgenesis5.9%
189Bronchomalacia5.9%
190Adrenogenital Syndrome5.9%
191Tracheomalacia5.9%
192Ovotesticular Disorders of Sex Development5.9%
193Retrognathia5.8%
194Truncus Arteriosus, Persistent5.4%
195Goldenhar Syndrome5.4%
196Dwarfism5.4%
197Hyperandrogenism5.4%
198Anemia, Sickle Cell5.3%
199Thalassemia5.3%
200Neonatal Abstinence Syndrome5.3%
201Tuberous Sclerosis5.3%
202Muscular Dystrophy, Duchenne5.2%
203Prognathism5.2%
204Fetal Growth Retardation5.1%
205Muscular Dystrophy5%
206Osteogenesis Imperfecta5%
207Fetal Hypoxia5%
208Congenital nystagmus5%
209Fetal Alcohol Spectrum Disorders5%
210Toxoplasmosis, Congenital5%
211Syphilis, Congenital5%
212Mandibulofacial Dysostosis4.9%
213Rett Syndrome4.9%
214Romano-Ward Syndrome4.9%
215Refsum Disease4.9%
216Albinism4.6%
217Paralysis, Obstetric4.5%
218Retinopathy of Prematurity4.5%
219Amino Acid Metabolism, Inborn Errors4.4%
220Carbohydrate Metabolism, Inborn Errors4.4%
221Metal Metabolism, Inborn Errors4.4%
222Progeria4.4%
223Lysosomal Storage Diseases4.4%
224Cytochrome-c Oxidase Deficiency4.4%
225Peroxisomal Disorders4.4%
226Talipes4.4%
227Bronchopulmonary Dysplasia4.4%
228Autoimmune Lymphoproliferative Syndrome4.1%
229Congenital clubfoot4.1%
230Vertical Talus4.1%
231Congenital Hyperinsulinism4.1%
232Chorioamnionitis4%
233Angioedemas, Hereditary4%
234Mucopolysaccharidosis II3.9%
235Sickle Cell Trait3.9%
236Wiskott-Aldrich Syndrome3.8%
237Neuronal Ceroid-Lipofuscinoses3.5%
238Menkes Kinky Hair Syndrome3.5%
239Arteriovenous fistula3.5%
240Respiratory Distress Syndrome, Newborn3.4%
241Cutis Laxa3.4%
242Retinitis Pigmentosa3.4%
243Pigmentary retinopathy3.4%
244Porokeratosis3.3%
245Keratoderma, Palmoplantar3.3%
246Chronic granulomatous disease3.3%
247Myotonic Dystrophy3.3%
248Welander Distal Myopathy3.3%
249Alkaptonuria3.3%
250Glycogen Storage Disease3.3%
251Hypophosphatasia3.3%
252Propionic acidemia3.3%
253Dihydropyrimidine Dehydrogenase Deficiency3.3%
254Cystinosis3.3%
255Acute Chest Syndrome2.8%
256Amyloid Neuropathies, Familial2.8%
257Ophthalmia Neonatorum2.8%
258Galactosemias2.8%
259Urea Cycle Disorders, Inborn2.8%
260Tyrosinemias2.8%
261Adrenoleukodystrophy2.7%
262Duane Retraction Syndrome2.7%
263Hepatolenticular Degeneration2.7%
264Porphyrias, Hepatic2.7%
265Glycogen Storage Disease Type I2.7%
266Glycogen Storage Disease Type V2.7%
267Hydrops Fetalis2.7%
268Mucopolysaccharidosis III2.7%
269Glycogen storage disease type II2.7%
270Peutz-Jeghers Syndrome2.7%
271Myotonia Congenita2.6%
272Thrombasthenia2.6%
273Antithrombin III Deficiency2.6%
274Protein C Deficiency2.6%
275Brain Diseases, Metabolic, Inborn2.6%
276Fabry Disease2.6%
277Afibrinogenemia2.6%
278Dystonia Musculorum Deformans2.6%
279Factor VII Deficiency2.6%
280Factor X Deficiency2.6%
281Factor XII Deficiency2.6%
282Hemophilia A2.6%
283Leukomalacia, Periventricular2.6%
284Activated Protein C Resistance2.6%
285Factor II deficiency2.6%
286Factor VIII Deficiency2.6%
287Factor V deficiency2.6%
288Factor XI Deficiency2.6%
289Hypoprothrombinemias2.6%
290Fanconi Anemia2.6%
291Nesidioblastosis2.6%
292Lafora Disease2.6%
293Unverricht-Lundborg Syndrome2.6%
294Anemia, Diamond-Blackfan2.6%
295Denys-Drash Syndrome2.6%
296Ataxia Telangiectasia2.5%
297Hyaline Membrane Disease2.5%
298Optic Atrophy, Hereditary, Leber2.4%
299Hypolipoproteinemias2.4%
300Papillon-Lefevre Disease2.4%
301Hyperlipidemia, Familial Combined2.4%
302Hyperlipoproteinemia Type III2.4%
303Hyperphosphaturia2.4%
304Canavan Disease2.3%
305Alexander Disease2.3%
306Multiple Endocrine Neoplasia2.3%
307Homocystinuria2.2%
308Congenital Hypothyroidism2.2%
309Dermatitis, Atopic2.2%
310Leigh Disease2.2%
311Gaucher Disease2.1%
312Hypoalphalipoproteinemias2%
313Carbamoyl-Phosphate Synthase I Deficiency Disease2%
314Familial Periodic Paralysis2%
315Lactose Intolerance2%
316Variegate Porphyria2%
317Acute intermittent porphyria2%
318Porphyria Cutanea Tarda2%
319Hyperhomocysteinemia2%
320Tay-Sachs Disease1.9%
321Renal Aminoacidurias1.9%
322Fanconi Syndrome1.9%
323Pseudohypoaldosteronism1.9%
324Liddle Syndrome1.9%
325Hyperlipoproteinemia Type IV1.9%
326Hyperlipoproteinemia Type V1.9%
327Kernicterus1.9%
328Behcet Syndrome1.9%
329Niemann-Pick Disease, Type C1.8%
330Gout1.7%
331Multiple Endocrine Neoplasia Type 11.6%
332Pseudohypoparathyroidism1.6%
333Huntington Disease1.6%
334Friedreich Ataxia1.6%
335Hypokalemic periodic paralysis1.6%
336Renal tubular acidosis1.6%
337Cystinuria1.6%
338Nephroblastoma1.5%
339Arthritis, Gouty1.4%
340Adenomatous Polyposis Coli1.3%
341Familial Hypophosphatemic Rickets1.2%
342Glycosuria, Renal1.2%
343MELAS Syndrome1%
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