MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Cytochrome-c Oxidase Deficiency

(UMLS:C0268237)

Definition:: A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
UMLS ID:: C0268237
MeSH ID:: D030401

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320.565.240

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.660.195

Synonym(s)

Cytochrome-c Oxidase Deficiency

COX - Cytochrome C oxidase deficiency

Complex IV deficiency

Cytochrome C oxidase deficiency

Cytochrome c oxidase deficiency

Cytochrome-C Oxidase Deficiency

Cytochrome-c oxidase deficiency

MITOCHONDRIAL COMPLEX IV DEFICIENCY

c cytochrome deficiency oxidase

10.

complex iv deficiency

11.

cytochrome c oxidase deficiency

12.

cytochrome oxidase deficiency

13.

cytochrome-c oxidase deficiency

Associated Drug(s)

	Name	Reference(s)	Data Source
1	Copper	15902551	CTD
2	Zidovudine	8215243 8745244	CTD
3	copper histidine	15902551	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Amino Acid Metabolism, Inborn Errors	33.3%
2	Carbohydrate Metabolism, Inborn Errors	33.3%
3	Metal Metabolism, Inborn Errors	33.3%
4	Progeria	33.3%
5	Lysosomal Storage Diseases	33.3%
6	Peroxisomal Disorders	33.3%
7	Leigh Disease	33.2%
8	Carbamoyl-Phosphate Synthase I Deficiency Disease	30.6%
9	Smith-Lemli-Opitz Syndrome	29.8%
10	Brain Diseases, Metabolic, Inborn	28.7%
11	Galactosemias	28%
12	Urea Cycle Disorders, Inborn	28%
13	Tyrosinemias	28%
14	Glycogen storage disease type II	26.4%
15	Hypolipoproteinemias	25.5%
16	Pseudohypoparathyroidism	25.5%
17	Werner Syndrome	25.4%
18	Hyperphosphaturia	24.9%
19	Alkaptonuria	24.6%
20	Glycogen Storage Disease	24.6%
21	Hypophosphatasia	24.6%
22	Propionic acidemia	24.6%
23	Dihydropyrimidine Dehydrogenase Deficiency	24.6%
24	Cystinosis	24.6%
25	Hyperlipidemia, Familial Combined	24.4%
26	Hyperhomocysteinemia	24.1%
27	Hyperlipoproteinemia Type III	23.9%
28	Gaucher Disease	23.7%
29	Menkes Kinky Hair Syndrome	23.5%
30	Hyperlipoproteinemia Type IV	23.5%
31	Hyperlipoproteinemia Type V	23.5%
32	Homocystinuria	23.2%
33	Mucopolysaccharidosis III	23%
34	Lactose Intolerance	23%
35	Mucopolysaccharidosis II	21.9%
36	Neuronal Ceroid-Lipofuscinoses	21.5%
37	Tay-Sachs Disease	21.4%
38	Adrenoleukodystrophy	21.4%
39	Fabry Disease	21.4%
40	Hypoalphalipoproteinemias	21%
41	Wasting Syndrome	20.7%
42	Amyloid Neuropathies, Familial	20.7%
43	Hepatolenticular Degeneration	20.5%
44	Acid-Base Imbalance	20.5%
45	Calcium Metabolism Disorders	20.5%
46	Iron Metabolism Disorders	20.5%
47	Phosphorus Metabolism Disorders	20.5%
48	Water-Electrolyte Imbalance	20.5%
49	Lipid Metabolism Disorders	20.5%
50	Glucose Metabolism Disorders	20.5%
51	Glycogen Storage Disease Type I	20.3%
52	Glycogen Storage Disease Type V	20.3%
53	Niemann-Pick Disease, Type C	20.3%
54	Refsum Disease	20.2%
55	Hypercalcemia	20%
56	Hypocalcemia	20%
57	Milk-Alkali Syndrome	20%
58	Zellweger Syndrome	20%
59	Albinism	19.9%
60	Mitochondrial Myopathies	18.9%
61	Familial Hypophosphatemic Rickets	18.7%
62	Ichthyosis, X-Linked	18.2%
63	Renal tubular acidosis	18.1%
64	Friedreich Ataxia	17.2%
65	Optic Atrophy, Hereditary, Leber	16.7%
66	Familial Periodic Paralysis	16.7%
67	Cockayne Syndrome	16.6%
68	MELAS Syndrome	16.6%
69	Renal Aminoacidurias	16.3%
70	Fanconi Syndrome	16.3%
71	Pseudohypoaldosteronism	16.3%
72	Liddle Syndrome	16.3%
73	Neoplastic Syndromes, Hereditary	16.1%
74	Lipodystrophy	16%
75	Sjogren-Larsson Syndrome	15.7%
76	Osteopenia	15.5%
77	Mitochondrial Encephalomyopathies	15.5%
78	Antley-Bixler Syndrome Phenotype	15.4%
79	Brain Diseases, Metabolic	15.3%
80	Multiple Epiphyseal Dysplasia	15.3%
81	Osteochondrodysplasias	15.3%
82	Pelger-Huet Anomaly	15.3%
83	Myasthenic Syndromes, Congenital	15.3%
84	CHARGE Syndrome	14.9%
85	Canavan Disease	14.5%
86	Alexander Disease	14.5%
87	Rickets	14.4%
88	Gout	14.3%
89	Glycosuria, Renal	14%
90	Cystic Fibrosis	14%
91	Aicardi's syndrome	13.9%
92	Fragile X Syndrome	13.9%
93	Hypokalemic periodic paralysis	13.6%
94	Porphyrias, Hepatic	13.5%
95	Congenital Hyperinsulinism	13.5%
96	Cystinuria	13.4%
97	Acidosis	13.3%
98	Alkalosis	13.3%
99	Amyloidosis	13.3%
100	Beckwith-Wiedemann Syndrome	13.3%
101	Bloom Syndrome	13.3%
102	Calcinosis	13.3%
103	Hyperglycemia	13.3%
104	Hyperinsulinism	13.3%
105	Hyperkalemia	13.3%
106	Hypernatremia	13.3%
107	Hypoglycemia	13.3%
108	Hypokalemia	13.3%
109	Hyponatremia	13.3%
110	Familial Mediterranean Fever	13.3%
111	Xanthomatosis	13.3%
112	Hypophosphatemia	13.3%
113	Metabolic acidosis	13.3%
114	Dyslipidemias	13.3%
115	Iron Overload	13.3%
116	Xanthoma	13.3%
117	Wolf-Hirschhorn Syndrome	13.3%
118	Anemia, Sickle Cell	13.2%
119	Thalassemia	13.2%
120	Muscular Dystrophy, Duchenne	13.2%
121	Fanconi Anemia	13.1%
122	Dwarfism	12.7%
123	Nail-Patella Syndrome	12.5%
124	Kearns-Sayre syndrome	12.3%
125	Muscular Dystrophy	12.1%
126	Osteogenesis Imperfecta	12.1%
127	Deformity	11.9%
128	Nutrition Disorders	11.9%
129	Rett Syndrome	11.7%
130	Arthritis, Gouty	11.6%
131	Smith-Magenis syndrome	11.2%
132	Ataxia Telangiectasia	11.2%
133	Cri-du-Chat Syndrome	11%
134	Down Syndrome	11%
135	Trisomy 21	11%
136	Osteomalacia	10.9%
137	Prader-Willi Syndrome	10.8%
138	Diabetic Ketoacidosis	10.8%
139	Alstrom Syndrome	10.7%
140	Diabetes Mellitus	10.5%
141	Nesidioblastosis	10.4%
142	Autoimmune Lymphoproliferative Syndrome	10.2%
143	Dehydration	10.2%
144	Lipomatosis	10.2%
145	Water Intoxication	10.2%
146	Achlorhydria	10%
147	Osteoporosis	10%
148	Bone Demineralization, Pathologic	10%
149	Post-Traumatic Osteoporosis	10%
150	Angioedemas, Hereditary	9.9%
151	Celiac Disease	9.9%
152	Sprue, Tropical	9.9%
153	Steatorrhea	9.9%
154	Sprue	9.9%
155	Wiskott-Aldrich Syndrome	9.9%
156	Acidosis, Lactic	9.9%
157	Calciphylaxis	9.9%
158	Hemosiderosis	9.9%
159	Ketosis	9.9%
160	Ketonuria	9.9%
161	Ketoacidosis	9.9%
162	Ketonemia	9.9%
163	Vascular calcification	9.9%
164	Variegate Porphyria	9.8%
165	Acute intermittent porphyria	9.8%
166	Porphyria Cutanea Tarda	9.8%
167	Sickle Cell Trait	9.7%
168	Holoprosencephaly	9.6%
169	Ectodermal Dysplasia	9.5%
170	Aplasia Cutis Congenita	9.5%
171	Xeroderma Pigmentosum	9.4%
172	Marfan Syndrome	9.4%
173	Kartagener Syndrome	9.3%
174	Fetal Diseases	8.9%
175	Primary Ciliary Dyskinesia	8.9%
176	Myotonic Dystrophy	8.8%
177	Polycystic Kidney Diseases	8.8%
178	Williams Syndrome	8.8%
179	Kallmann Syndrome	8.4%
180	Rubinstein-Taybi Syndrome	8.4%
181	Hypercholesterolemia	8.2%
182	Hyperlipoproteinemias	8.2%
183	Hypertriglyceridemia	8.2%
184	Tuberous Sclerosis	8.2%
185	Cutis Laxa	8.1%
186	Retinitis Pigmentosa	8.1%
187	Myelinolysis, Central Pontine	8.1%
188	Pigmentary retinopathy	8.1%
189	Porokeratosis	8%
190	Keratoderma, Palmoplantar	8%
191	Glycosuria	7.9%
192	Chronic granulomatous disease	7.9%
193	Reye Syndrome	7.9%
194	Hepatic Encephalopathy	7.9%
195	Welander Distal Myopathy	7.9%
196	Retinal Dysplasia	7.8%
197	Aniridia	7.8%
198	Epidermolysis Bullosa	7.6%
199	HIV Wasting Syndrome	7.5%
200	Acute Chest Syndrome	7.5%
201	Acidosis, Respiratory	7.4%
202	Adiposis Dolorosa	7.4%
203	Alkalosis, Respiratory	7.4%
204	Insulin Resistance	7.4%
205	Osteoporosis, Postmenopausal	7.4%
206	HIV-Associated Lipodystrophy Syndrome	7.3%
207	Renal Osteodystrophy	7.3%
208	Renal rickets	7.3%
209	Abdominal Cramps	6.8%
210	Abnormalities, Drug-Induced	6.8%
211	Amniotic Band Syndrome	6.8%
212	Asphyxia Neonatorum	6.8%
213	Child Nutrition Disorders	6.8%
214	Duane Retraction Syndrome	6.8%
215	Hypervitaminosis A	6.8%
216	Infant Nutrition Disorders	6.8%
217	Infant, Premature, Diseases	6.8%
218	Situs Inversus	6.8%
219	Malnutrition	6.8%
220	Infantile Colic	6.8%
221	Kernicterus	6.7%
222	Peutz-Jeghers Syndrome	6.6%
223	Wernicke Encephalopathy	6.6%
224	Myotonia Congenita	6.6%
225	Thrombasthenia	6.6%
226	Antithrombin III Deficiency	6.6%
227	Necrobiosis Lipoidica Diabeticorum	6.6%
228	Protein C Deficiency	6.6%
229	Afibrinogenemia	6.6%
230	Dystonia Musculorum Deformans	6.6%
231	Factor VII Deficiency	6.6%
232	Factor X Deficiency	6.6%
233	Factor XII Deficiency	6.6%
234	Hemophilia A	6.6%
235	Activated Protein C Resistance	6.6%
236	Factor II deficiency	6.6%
237	Factor VIII Deficiency	6.6%
238	Factor V deficiency	6.6%
239	Factor XI Deficiency	6.6%
240	Hypoprothrombinemias	6.6%
241	Lafora Disease	6.5%
242	Unverricht-Lundborg Syndrome	6.5%
243	Anemia, Diamond-Blackfan	6.5%
244	Polycystic Kidney, Autosomal Dominant	6.5%
245	Classical Lissencephalies and Subcortical Band Heterotopias	6.3%
246	Gestational Diabetes	6.1%
247	Latent Autoimmune Diabetes in Adults	6.1%
248	Diabetes Mellitus, Experimental	6%
249	Pseudoxanthoma Elasticum	5.9%
250	Nephrocalcinosis	5.9%
251	Tetany	5.9%
252	Meconium Aspiration Syndrome	5.9%
253	Multiple Endocrine Neoplasia	5.9%
254	Papillon-Lefevre Disease	5.9%
255	Hyperkeratosis, Epidermolytic	5.9%
256	Cerebral Amyloid Angiopathy	5.8%
257	Congenital Hypothyroidism	5.7%
258	Dermatitis, Atopic	5.7%
259	Xeroderma	5.6%
260	Mobius Syndrome	5.6%
261	Charcot-Marie-Tooth Disease	5.6%
262	Eye Abnormalities	5.4%
263	Cardiovascular Abnormalities	5.4%
264	Skin Abnormalities	5.2%
265	Lymphatic Abnormalities	5.2%
266	Congenital Microtia	5.2%
267	Anemia, Neonatal	5.1%
268	Persistent Fetal Circulation Syndrome	5.1%
269	Congenital diaphragmatic hernia	5%
270	Umbilical hernia	5%
271	Behcet Syndrome	5%
272	Primary amyloidosis	5%
273	Basal Cell Nevus Syndrome	4.8%
274	Anencephaly	4.6%
275	Klinefelter Syndrome	4.5%
276	Deficiency Diseases	4.4%
277	Prune Belly Syndrome	4.4%
278	Starvation	4.4%
279	Twins, Conjoined	4.4%
280	Refeeding Syndrome	4.4%
281	Waardenburg Syndrome	4.4%
282	Huntington Disease	4.4%
283	Urogenital Abnormalities	4.3%
284	Amyotrophic Lateral Sclerosis	4.3%
285	Multiple Endocrine Neoplasia Type 1	4.2%
286	Hydrops Fetalis	4.2%
287	Neonatal Abstinence Syndrome	4.2%
288	Fetal Growth Retardation	4.1%
289	Frontotemporal dementia	4.1%
290	Fetal Hypoxia	4%
291	Congenital nystagmus	4%
292	Fetal Alcohol Spectrum Disorders	4%
293	Toxoplasmosis, Congenital	4%
294	Syphilis, Congenital	4%
295	Nephroblastoma	3.9%
296	Maxillofacial Abnormalities	3.9%
297	Dural Arteriovenous Fistula	3.9%
298	Turner Syndrome	3.9%
299	Dextrocardia	3.9%
300	CREST Syndrome	3.7%
301	Adenomatous Polyposis Coli	3.5%
302	Anophthalmos	3.4%
303	Anus, Imperforate	3.4%
304	Hydranencephaly	3.4%
305	Microphthalmos	3.4%
306	Neural Tube Defects	3.4%
307	Paralysis, Obstetric	3.4%
308	Retinopathy of Prematurity	3.4%
309	Tethered Cord Syndrome	3.4%
310	Iniencephaly	3.4%
311	Craniorachischisis	3.4%
312	Limb Deformities, Congenital	3.4%
313	Exencephaly	3.4%
314	Septo-Optic Dysplasia	3.4%
315	Craniofacial Abnormalities	3.4%
316	Cortical Dysplasia	3.4%
317	Malformations of Cortical Development	3.4%
318	Anorectal Malformations	3.4%
319	Chorioamnionitis	3.4%
320	Bronchopulmonary Dysplasia	3.3%
321	Kwashiorkor	3.3%
322	Magnesium Deficiency	3.3%
323	Potassium Deficiency	3.3%
324	Protein Deficiency	3.3%
325	Avitaminosis	3.3%
326	Microcephaly	3%
327	Macrocephaly	3%
328	Scimitar Syndrome	3%
329	Abnormalities, Radiation-Induced	2.9%
330	Craniosynostosis	2.8%
331	Syndactyly	2.8%
332	Brachycephaly	2.8%
333	Blepharophimosis	2.7%
334	Laryngostenosis	2.7%
335	Mouth Abnormalities	2.7%
336	Respiratory Distress Syndrome, Newborn	2.7%
337	Ascorbic Acid Deficiency	2.7%
338	Vitamin A Deficiency	2.7%
339	Vitamin D Deficiency	2.7%
340	Vitamin E Deficiency	2.7%
341	Marasmus	2.7%
342	Esophageal Atresia	2.7%
343	Intestinal Atresia	2.7%
344	Horseshoe Kidney	2.7%
345	Pectus excavatum	2.7%
346	Porencephaly	2.7%
347	Klippel-Feil Syndrome	2.7%
348	Gastroschisis	2.7%
349	Synostosis	2.7%
350	Acrocephalosyndactylia	2.7%
351	Acrodermatitis	2.7%
352	Lymphangiectasis, Intestinal	2.7%
353	Gianotti-Crosti Syndrome	2.7%
354	Denys-Drash Syndrome	2.6%
355	Noonan Syndrome	2.5%
356	Amelia	2.5%
357	Arachnodactyly	2.5%
358	Ectopia Cordis	2.5%
359	Ectromelia	2.5%
360	Hemimelia	2.5%
361	Meningomyelocele	2.5%
362	Phocomelia	2.5%
363	Sirenomelia	2.5%
364	Spina Bifida	2.5%
365	Polydactyly	2.5%
366	Brachydactyly	2.5%
367	Plagiocephaly	2.5%
368	Lower Extremity Deformities, Congenital	2.5%
369	Upper Extremity Deformities, Congenital	2.5%
370	Single umbilical artery	2.5%
371	Ophthalmia Neonatorum	2.5%
372	Folic Acid Deficiency	2.5%
373	Pellagra	2.5%
374	Thiamine Deficiency	2.5%
375	Vitamin B 12 Deficiency	2.5%
376	Vitamin B 6 Deficiency	2.5%
377	Pyridoxine Deficiency	2.5%
378	Beriberi	2.3%
379	Poland Syndrome	2.3%
380	Cleft Palate	2.3%
381	Arthrogryposis	2.3%
382	Choanal Atresia	2.3%
383	Tracheobronchomegaly	2.3%
384	Laryngocele	2.3%
385	Jaw Abnormalities	2.3%
386	Choledochal Cyst	2.3%
387	Hermaphroditism	2.3%
388	Disorders of Sex Development	2.3%
389	Cryptorchidism	2.2%
390	Hypospadias	2.2%
391	Central Nervous System Cysts	2.2%
392	Dandy-Walker Syndrome	2.2%
393	Leukomalacia, Periventricular	2.2%
394	POEMS Syndrome	2.2%
395	Obesity	2.2%
396	Dermal Sinus	2%
397	Spina Bifida Cystica	2%
398	Spina Bifida Occulta	2%
399	Lissencephaly	2%
400	Polymicrogyria	2%
401	Pachygyria	2%
402	Schizencephaly	2%
403	Periventricular Nodular Heterotopia	2%
404	Aortic coarctation	2%
405	Cor Triatriatum	2%
406	Coronary Vessel Anomalies	2%
407	Dental Enamel Hypoplasia	2%
408	Patent ductus arteriosus	2%
409	Ebstein Anomaly	2%
410	Heart Septal Defects	2%
411	Hyaline Membrane Disease	2%
412	Hypodontia	2%
413	Macrostomia	2%
414	Meningocele	2%
415	Microstomia	2%
416	Tetralogy of Fallot	2%
417	Transposition of Great Vessels	2%
418	Hypoplastic Left Heart Syndrome	2%
419	May-Thurner Syndrome	2%
420	Encephalocele	2%
421	Craniofacial Dysostosis	2%
422	Wolff-Parkinson-White Syndrome	2%
423	Laryngomalacia	2%
424	Pectus carinatum	1.9%
425	Obesity, Abdominal	1.9%
426	Micrognathism	1.9%
427	Pierre Robin Syndrome	1.9%
428	Bladder Exstrophy	1.9%
429	Epispadias	1.9%
430	Multicystic Dysplastic Kidney	1.9%
431	Retrognathia	1.7%
432	Anemia, Pernicious	1.7%
433	Long QT Syndrome	1.7%
434	Platybasia	1.7%
435	Tricuspid Atresia	1.7%
436	Arrhythmogenic Right Ventricular Dysplasia	1.7%
437	Vitamin K Deficiency	1.7%
438	Gonadal Dysgenesis	1.6%
439	Bronchomalacia	1.6%
440	Adrenogenital Syndrome	1.6%
441	Tracheomalacia	1.6%
442	Ovotesticular Disorders of Sex Development	1.6%
443	Aortopulmonary Septal Defect	1.6%
444	Double Outlet Right Ventricle	1.6%
445	Endocardial Cushion Defects	1.6%
446	Myocardial bridging	1.6%
447	Aorticopulmonary Septal Defect	1.6%
448	Hyperandrogenism	1.6%
449	Pediatric Obesity	1.6%
450	Prognathism	1.6%
451	Scurvy	1.5%
452	Truncus Arteriosus, Persistent	1.5%
453	Goldenhar Syndrome	1.5%
454	Mandibulofacial Dysostosis	1.4%
455	Romano-Ward Syndrome	1.4%
456	Talipes	1.2%
457	Congenital clubfoot	1.1%
458	Vertical Talus	1.1%
459	Arteriovenous fistula	1%
460	Subacute Combined Degeneration	1%

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