MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

CHARGE Syndrome

(UMLS:C0265354)

Definition:: Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
UMLS ID:: C0265354
MeSH ID:: D058747

Classification 1:

Name:

Eye Diseases
MeSH Tree Number(s):: C11.270.147.500

Classification 2:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.077.239|C16.320.165

Synonym(s)

CHARGE Syndrome

CHARGE SYNDROME

CHARGE association

CHARGE syndrome

Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association

Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association

Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome

Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association

Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association

10.

charge association

Associated Drug(s)

	Name	Number of Reports	Data Source
1	Sertraline	FAERS: 4	US FAERS
2	Risperidone	FAERS: 2	US FAERS
3	Isotretinoin	FAERS: 1	US FAERS
4	Lamotrigine	FAERS: 1	US FAERS
5	Levetiracetam	FAERS: 1	US FAERS
6	Methimazole	FAERS: 1	US FAERS
7	NuvaRing	FAERS: 1	US FAERS
8	Sertraline	FAERS: 1	US FAERS
9	haloperidol decanoate	FAERS: 1	US FAERS

Similar ADE(s)

	Name	Semantic Similarity
1	Beckwith-Wiedemann Syndrome	41.6%
2	Wolf-Hirschhorn Syndrome	41.6%
3	Aicardi's syndrome	38.5%
4	Smith-Magenis syndrome	35.9%
5	Cri-du-Chat Syndrome	35.4%
6	Down Syndrome	35.4%
7	Trisomy 21	35.4%
8	Holoprosencephaly	34%
9	Nail-Patella Syndrome	31.4%
10	Ectodermal Dysplasia	31.1%
11	Aplasia Cutis Congenita	31.1%
12	Prader-Willi Syndrome	30.8%
13	Alstrom Syndrome	30.2%
14	Retinal Dysplasia	30.2%
15	Rubinstein-Taybi Syndrome	29.2%
16	Aniridia	29.1%
17	Cockayne Syndrome	29%
18	Prune Belly Syndrome	28.8%
19	Waardenburg Syndrome	28.8%
20	Fragile X Syndrome	27.9%
21	Albinism	26.8%
22	Polycystic Kidney Diseases	26.6%
23	Marfan Syndrome	26.4%
24	Eye Abnormalities	25.7%
25	Smith-Lemli-Opitz Syndrome	25.6%
26	Kartagener Syndrome	25.5%
27	Primary Ciliary Dyskinesia	24.4%
28	Retinitis Pigmentosa	24.3%
29	Pigmentary retinopathy	24.3%
30	Ichthyosis, X-Linked	23.7%
31	Mobius Syndrome	23.3%
32	Bloom Syndrome	23%
33	Duane Retraction Syndrome	22.5%
34	Abnormalities, Drug-Induced	22.4%
35	Situs Inversus	22.4%
36	Cystic Fibrosis	22%
37	Neoplastic Syndromes, Hereditary	21.4%
38	Anemia, Sickle Cell	21%
39	Thalassemia	21%
40	Muscular Dystrophy, Duchenne	20.9%
41	Polycystic Kidney, Autosomal Dominant	20.6%
42	Multiple Epiphyseal Dysplasia	20.5%
43	Osteochondrodysplasias	20.5%
44	Pelger-Huet Anomaly	20.5%
45	Werner Syndrome	20.5%
46	Myasthenic Syndromes, Congenital	20.5%
47	Mucopolysaccharidosis II	20.1%
48	Rett Syndrome	19.8%
49	Williams Syndrome	19%
50	Mandibulofacial Dysostosis	18.9%
51	Familial Mediterranean Fever	18.6%
52	Cardiovascular Abnormalities	18.6%
53	Menkes Kinky Hair Syndrome	18.1%
54	Skin Abnormalities	18.1%
55	Lymphatic Abnormalities	18.1%
56	Congenital Microtia	18.1%
57	Anencephaly	17.9%
58	Zellweger Syndrome	17.8%
59	Congenital diaphragmatic hernia	17.7%
60	Dwarfism	17.6%
61	Blepharophimosis	17.2%
62	Sjogren-Larsson Syndrome	17%
63	Muscular Dystrophy	16.9%
64	Osteogenesis Imperfecta	16.9%
65	Sickle Cell Trait	16.9%
66	Epidermolysis Bullosa	16.8%
67	Optic Atrophy, Hereditary, Leber	16.8%
68	Classical Lissencephalies and Subcortical Band Heterotopias	16.8%
69	Retinal Degeneration	16.7%
70	Anophthalmos	16.4%
71	Microphthalmos	16.4%
72	Wiskott-Aldrich Syndrome	16.3%
73	POEMS Syndrome	16.2%
74	Tuberous Sclerosis	15.9%
75	Refsum Disease	15.9%
76	Fetal Diseases	15.7%
77	Neuronal Ceroid-Lipofuscinoses	15.7%
78	Xeroderma	15.5%
79	Kallmann Syndrome	15.5%
80	Urogenital Abnormalities	15.5%
81	Maxillofacial Abnormalities	15.5%
82	Dural Arteriovenous Fistula	15.5%
83	Basal Cell Nevus Syndrome	15.4%
84	Dextrocardia	15.3%
85	Twins, Conjoined	15.3%
86	Adrenoleukodystrophy	15%
87	Amino Acid Metabolism, Inborn Errors	14.9%
88	Carbohydrate Metabolism, Inborn Errors	14.9%
89	Metal Metabolism, Inborn Errors	14.9%
90	Progeria	14.9%
91	Lysosomal Storage Diseases	14.9%
92	Cytochrome-c Oxidase Deficiency	14.9%
93	Peroxisomal Disorders	14.9%
94	Autoimmune Lymphoproliferative Syndrome	14.7%
95	Myotonic Dystrophy	14.6%
96	Fabry Disease	14.4%
97	Angioedemas, Hereditary	14.4%
98	Glycogen storage disease type II	14.1%
99	Hyperkeratosis, Epidermolytic	13.8%
100	Hepatolenticular Degeneration	13.7%
101	Pseudoxanthoma Elasticum	13.5%
102	Turner Syndrome	13.4%
103	Acute Chest Syndrome	13.4%
104	Charcot-Marie-Tooth Disease	13.2%
105	Antley-Bixler Syndrome Phenotype	13.2%
106	Amyloid Neuropathies, Familial	13.2%
107	Galactosemias	13.1%
108	Urea Cycle Disorders, Inborn	13.1%
109	Tyrosinemias	13.1%
110	Klinefelter Syndrome	13.1%
111	Mucopolysaccharidosis III	13.1%
112	Cutis Laxa	12.5%
113	Porokeratosis	12.4%
114	Keratoderma, Palmoplantar	12.4%
115	Anus, Imperforate	12.3%
116	Hydranencephaly	12.3%
117	Neural Tube Defects	12.3%
118	Tethered Cord Syndrome	12.3%
119	Iniencephaly	12.3%
120	Craniorachischisis	12.3%
121	Limb Deformities, Congenital	12.3%
122	Exencephaly	12.3%
123	Septo-Optic Dysplasia	12.3%
124	Craniofacial Abnormalities	12.3%
125	Cortical Dysplasia	12.3%
126	Malformations of Cortical Development	12.3%
127	Anorectal Malformations	12.3%
128	Microcephaly	12.3%
129	Macrocephaly	12.3%
130	Chronic granulomatous disease	12.3%
131	Xeroderma Pigmentosum	12.3%
132	Welander Distal Myopathy	12.2%
133	Scimitar Syndrome	12.2%
134	Abdominal Cramps	12.1%
135	Amniotic Band Syndrome	12.1%
136	Asphyxia Neonatorum	12.1%
137	Infant, Premature, Diseases	12.1%
138	Meconium Aspiration Syndrome	12.1%
139	Infantile Colic	12.1%
140	Gaucher Disease	12%
141	Alkaptonuria	12%
142	Glycogen Storage Disease	12%
143	Hypophosphatasia	12%
144	Propionic acidemia	12%
145	Dihydropyrimidine Dehydrogenase Deficiency	12%
146	Cystinosis	12%
147	Acrocephalosyndactylia	12%
148	Hyperphosphaturia	11.8%
149	Craniosynostosis	11.6%
150	Syndactyly	11.6%
151	Brachycephaly	11.6%
152	Tay-Sachs Disease	11.4%
153	Canavan Disease	11.3%
154	Alexander Disease	11.3%
155	Porencephaly	11.3%
156	Homocystinuria	11.2%
157	Leigh Disease	11.1%
158	Retinopathy of Prematurity	11%
159	Abnormalities, Radiation-Induced	10.9%
160	Deformity	10.7%
161	Niemann-Pick Disease, Type C	10.7%
162	Porphyrias, Hepatic	10.7%
163	Glycogen Storage Disease Type I	10.6%
164	Glycogen Storage Disease Type V	10.6%
165	Peutz-Jeghers Syndrome	10.5%
166	Myotonia Congenita	10.5%
167	Thrombasthenia	10.5%
168	Antithrombin III Deficiency	10.5%
169	Protein C Deficiency	10.5%
170	Brain Diseases, Metabolic, Inborn	10.5%
171	Afibrinogenemia	10.5%
172	Dystonia Musculorum Deformans	10.5%
173	Factor VII Deficiency	10.5%
174	Factor X Deficiency	10.5%
175	Factor XII Deficiency	10.5%
176	Hemophilia A	10.5%
177	Activated Protein C Resistance	10.5%
178	Factor II deficiency	10.5%
179	Factor VIII Deficiency	10.5%
180	Factor V deficiency	10.5%
181	Factor XI Deficiency	10.5%
182	Hypoprothrombinemias	10.5%
183	Noonan Syndrome	10.4%
184	Fanconi Anemia	10.4%
185	Carbamoyl-Phosphate Synthase I Deficiency Disease	10.4%
186	Lafora Disease	10.4%
187	Unverricht-Lundborg Syndrome	10.4%
188	Anemia, Diamond-Blackfan	10.4%
189	Laryngostenosis	10.3%
190	Mouth Abnormalities	10.3%
191	Esophageal Atresia	10.2%
192	Intestinal Atresia	10.2%
193	Horseshoe Kidney	10.2%
194	Pectus excavatum	10.2%
195	Klippel-Feil Syndrome	10.2%
196	Gastroschisis	10.2%
197	Synostosis	10.2%
198	Congenital nystagmus	10.2%
199	Ataxia Telangiectasia	10.2%
200	Cleft Palate	10.1%
201	Acrodermatitis	10.1%
202	Lymphangiectasis, Intestinal	10.1%
203	Gianotti-Crosti Syndrome	10.1%
204	Hypolipoproteinemias	9.9%
205	Papillon-Lefevre Disease	9.9%
206	Hyperlipidemia, Familial Combined	9.9%
207	Hyperlipoproteinemia Type III	9.9%
208	Poland Syndrome	9.8%
209	Jaw Abnormalities	9.7%
210	Anemia, Neonatal	9.6%
211	Persistent Fetal Circulation Syndrome	9.6%
212	Umbilical hernia	9.5%
213	Multiple Endocrine Neoplasia	9.5%
214	Amelia	9.4%
215	Arachnodactyly	9.4%
216	Ectopia Cordis	9.4%
217	Ectromelia	9.4%
218	Hemimelia	9.4%
219	Meningomyelocele	9.4%
220	Phocomelia	9.4%
221	Sirenomelia	9.4%
222	Spina Bifida	9.4%
223	Polydactyly	9.4%
224	Brachydactyly	9.4%
225	Plagiocephaly	9.4%
226	Lower Extremity Deformities, Congenital	9.4%
227	Upper Extremity Deformities, Congenital	9.4%
228	Single umbilical artery	9.4%
229	Congenital Hypothyroidism	9.3%
230	Dermatitis, Atopic	9.2%
231	Behcet Syndrome	9.1%
232	Asthenopia	8.9%
233	Conjunctival Diseases	8.9%
234	Corneal Diseases	8.9%
235	Eyelid Diseases	8.9%
236	Lacrimal Apparatus Diseases	8.9%
237	Lens Diseases	8.9%
238	Ocular Hypertension	8.9%
239	Ocular Hypotension	8.9%
240	Retinal Diseases	8.9%
241	Scleral Diseases	8.9%
242	Vitreous Detachment	8.9%
243	Posterior Vitreous Detachment	8.9%
244	Genetic Diseases, Inborn	8.9%
245	Arthrogryposis	8.9%
246	Choanal Atresia	8.9%
247	Tracheobronchomegaly	8.9%
248	Laryngocele	8.9%
249	Choledochal Cyst	8.8%
250	Hermaphroditism	8.8%
251	Disorders of Sex Development	8.8%
252	Hypoalphalipoproteinemias	8.8%
253	Cryptorchidism	8.7%
254	Hypospadias	8.7%
255	Central Nervous System Cysts	8.7%
256	Hydrops Fetalis	8.7%
257	Dandy-Walker Syndrome	8.7%
258	Familial Periodic Paralysis	8.7%
259	Retinoblastoma	8.6%
260	Color blindness	8.6%
261	Lactose Intolerance	8.5%
262	Variegate Porphyria	8.5%
263	Acute intermittent porphyria	8.5%
264	Porphyria Cutanea Tarda	8.5%
265	Hyperhomocysteinemia	8.5%
266	Renal Aminoacidurias	8.5%
267	Fanconi Syndrome	8.5%
268	Pseudohypoaldosteronism	8.5%
269	Liddle Syndrome	8.5%
270	Hyperlipoproteinemia Type IV	8.4%
271	Hyperlipoproteinemia Type V	8.4%
272	Micrognathism	8.4%
273	Pierre Robin Syndrome	8.4%
274	Neonatal Abstinence Syndrome	8.1%
275	Dermal Sinus	8%
276	Spina Bifida Cystica	8%
277	Spina Bifida Occulta	8%
278	Lissencephaly	8%
279	Polymicrogyria	8%
280	Pachygyria	8%
281	Schizencephaly	8%
282	Periventricular Nodular Heterotopia	8%
283	Fetal Growth Retardation	8%
284	Fetal Hypoxia	7.9%
285	Fetal Alcohol Spectrum Disorders	7.9%
286	Toxoplasmosis, Congenital	7.8%
287	Aortic coarctation	7.8%
288	Cor Triatriatum	7.8%
289	Coronary Vessel Anomalies	7.8%
290	Dental Enamel Hypoplasia	7.8%
291	Patent ductus arteriosus	7.8%
292	Ebstein Anomaly	7.8%
293	Heart Septal Defects	7.8%
294	Hypodontia	7.8%
295	Macrostomia	7.8%
296	Meningocele	7.8%
297	Microstomia	7.8%
298	Syphilis, Congenital	7.8%
299	Tetralogy of Fallot	7.8%
300	Transposition of Great Vessels	7.8%
301	Hypoplastic Left Heart Syndrome	7.8%
302	May-Thurner Syndrome	7.8%
303	Encephalocele	7.8%
304	Craniofacial Dysostosis	7.8%
305	Laryngomalacia	7.8%
306	Wolff-Parkinson-White Syndrome	7.7%
307	Pectus carinatum	7.7%
308	Bladder Exstrophy	7.6%
309	Epispadias	7.6%
310	Retrognathia	7.6%
311	Gout	7.6%
312	Hypokalemic periodic paralysis	7.5%
313	Multicystic Dysplastic Kidney	7.5%
314	Multiple Endocrine Neoplasia Type 1	7.5%
315	Pseudohypoparathyroidism	7.5%
316	Cystinuria	7.5%
317	Friedreich Ataxia	7.4%
318	Renal tubular acidosis	7.4%
319	Ophthalmia Neonatorum	7.4%
320	Huntington Disease	7.3%
321	Eye Infection	7.1%
322	Eye Manifestations	7.1%
323	Eye Neoplasms	7.1%
324	Optic Neuropathy	7.1%
325	Hyperandrogenism	7.1%
326	Uveal Neoplasms	6.9%
327	Prognathism	6.9%
328	Eyelid Neoplasms	6.9%
329	Retinal Hemorrhage	6.9%
330	Familial Hypophosphatemic Rickets	6.9%
331	Paralysis, Obstetric	6.8%
332	Xerophthalmia	6.8%
333	Low Tension Glaucoma	6.8%
334	Iridocorneal endothelial syndrome	6.8%
335	CHARGE Syndrome	6.8%
336	Congenital Hyperinsulinism	6.8%
337	Chorioamnionitis	6.8%
338	Bronchopulmonary Dysplasia	6.7%
339	Long QT Syndrome	6.7%
340	Platybasia	6.7%
341	Tricuspid Atresia	6.7%
342	Arrhythmogenic Right Ventricular Dysplasia	6.7%
343	Gonadal Dysgenesis	6.7%
344	Bronchomalacia	6.7%
345	Adrenogenital Syndrome	6.7%
346	Tracheomalacia	6.7%
347	Ovotesticular Disorders of Sex Development	6.7%
348	Nephroblastoma	6.6%
349	Aortopulmonary Septal Defect	6.6%
350	Double Outlet Right Ventricle	6.6%
351	Endocardial Cushion Defects	6.6%
352	Myocardial bridging	6.6%
353	Aorticopulmonary Septal Defect	6.6%
354	Arthritis, Gouty	6.6%
355	Denys-Drash Syndrome	6.5%
356	Truncus Arteriosus, Persistent	6%
357	Goldenhar Syndrome	6%
358	Adenomatous Polyposis Coli	6%
359	Ocular Motility Disorders	6%
360	Cyclophoria	6%
361	Glycosuria, Renal	5.9%
362	Pupil Disorders	5.9%
363	Eye Hemorrhage	5.8%
364	Corneal Scar	5.8%
365	Vision Disorders	5.8%
366	Metamorphopsia	5.8%
367	Visual Impairment	5.8%
368	Eye Injuries	5.7%
369	Respiratory Distress Syndrome, Newborn	5.7%
370	Corneal Ulcer	5.7%
371	Choroid Hemorrhage	5.6%
372	Romano-Ward Syndrome	5.6%
373	Keratoconjunctivitis Sicca	5.6%
374	Keratoconjunctivitis	5.4%
375	Talipes	5.2%
376	Angioid Streaks	5.2%
377	Anisometropia	5.2%
378	Aphakia	5.2%
379	Astigmatism	5.2%
380	Blepharitis	5.2%
381	Blepharoptosis	5.2%
382	Blepharospasm	5.2%
383	Choroid Diseases	5.2%
384	Conjunctivitis	5.2%
385	Corneal edema	5.2%
386	Corneal Opacity	5.2%
387	Dacryocystitis	5.2%
388	Dry Eye Syndromes	5.2%
389	Ectropion	5.2%
390	Enophthalmos	5.2%
391	Entropion	5.2%
392	Episcleritis	5.2%
393	Exophthalmos	5.2%
394	Glaucoma	5.2%
395	Iris Diseases	5.2%
396	Keratitis	5.2%
397	Keratoconus	5.2%
398	Lacrimal Duct Obstruction	5.2%
399	Lens dislocation	5.2%
400	Lens Subluxation	5.2%
401	Mydriasis	5.2%
402	Myopia	5.2%
403	Presbyopia	5.2%
404	Pterygium	5.2%
405	Retinal Detachment	5.2%
406	Retinitis	5.2%
407	Scleritis	5.2%
408	Uveitis	5.2%
409	Corneal Neovascularization	5.2%
410	Orbital Pseudotumor	5.2%
411	Cataract	5.2%
412	Pinguecula	5.2%
413	Trichiasis	5.2%
414	Chorioretinitis	5.1%
415	Congenital clubfoot	4.9%
416	Vertical Talus	4.9%
417	MELAS Syndrome	4.9%
418	Hordeolum	4.8%
419	Leukomalacia, Periventricular	4.8%
420	Nesidioblastosis	4.7%
421	Pars Planitis	4.5%
422	Hyaline Membrane Disease	4.5%
423	Trachoma	4.4%
424	Arteriovenous fistula	4.4%
425	Choroiditis	4.3%
426	Iridocyclitis	4.3%
427	Iritis	4.3%
428	Endophthalmitis	4.1%
429	Optic Atrophy	4.1%
430	Optic Neuritis	4.1%
431	Papilledema	4.1%
432	Pemphigoid, Benign Mucous Membrane	4.1%
433	Retinal Artery Occlusion	4.1%
434	Strabismus	4.1%
435	Tolosa-Hunt Syndrome	4.1%
436	Orbital Cellulitis	4.1%
437	Retinal Vasculitis	4.1%
438	Hypertensive Retinopathy	4.1%
439	Retrobulbar Hemorrhage	4.1%
440	Corneal Endothelial Cell Loss	4.1%
441	Hyphema	4.1%
442	Retinal Neovascularization	4.1%
443	Vitreous Hemorrhage	4.1%
444	Acanthamoeba Keratitis	3.9%
445	Keratitis, Herpetic	3.9%
446	Cytomegalovirus Retinitis	3.9%
447	Bacterial conjunctivitis	3.8%
448	Corneal Perforation	3.8%
449	Kernicterus	3.7%
450	Optic Neuropathy, Ischemic	3.4%
451	Anterior Ischemic Optic Neuropathy	3.4%
452	Retinal Vein Occlusion	3.4%
453	Anisocoria	3.4%
454	Diabetic Retinopathy	3.4%
455	Angle Closure Glaucoma	3.4%
456	Glaucoma, Open-Angle	3.4%
457	Macular degeneration	3.4%
458	Panuveitis	3.4%
459	Retinal Drusen	3.4%
460	Retinal Necrosis Syndrome, Acute	3.4%
461	Tonic Pupil	3.4%
462	Eye pain	3.4%
463	Retinoschisis	3.4%
464	Exfoliation Syndrome	3.4%
465	Orbital Myositis	3.4%
466	Diplopia	3.4%
467	Scotoma	3.4%
468	Photophobia	3.4%
469	Amaurosis	3.4%
470	Blindness	3.4%
471	Panophthalmitis	2.9%
472	Ophthalmoplegia	2.9%
473	External Ophthalmoplegia	2.9%
474	Amblyopia	2.9%
475	Esotropia	2.7%
476	Exotropia	2.7%
477	Choroidal Neovascularization	2.7%
478	Anterior uveitis	2.5%
479	Uveitis, Posterior	2.5%
480	Uveomeningoencephalitic Syndrome	2.3%
481	Herpes Zoster Ophthalmicus	2.3%
482	Hemianopsia	2.2%
483	Amaurosis Fugax	2.2%
484	Blindness, Cortical	2.2%
485	Opsoclonus-Myoclonus Syndrome	2%
486	Graves Disease	1.9%
487	Horner Syndrome	1.9%
488	Miller Fisher Syndrome	1.8%
489	Sicca Syndrome	1.5%
490	Sjogren's Syndrome	1.5%
491	Kearns-Sayre syndrome	1.4%
492	Ophthalmoplegic Migraine	1.3%
493	Progressive supranuclear palsy	1.3%
494	Neuromyelitis Optica	1.2%
495	Optic Nerve Glioma	1%

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