MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Cystinosis

(UMLS:C4316899)

Definition:: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
UMLS ID:: C4316899
MeSH ID:: D003554

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320.565.595.377

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.648.595.377

Synonym(s)

Cystinosis

Cystine diathesis

Cystine disease

Cystine storage disease

Cystinosis, NOS

Fanconi's syndrome, childhood type

cystine; storage disease

cystinosis

Associated Drug(s)

	Name	Number of Reports	Reference(s)	Data Source
1	Cysteamine	FAERS: 1		US FAERS
2	Cysteamine	FAERS: 1	22532830 23651769	CTD US FAERS
3	Venlafaxine Hydrochloride	FAERS: 1		US FAERS
4	Copper		23651769	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Amino Acid Metabolism, Inborn Errors	34.4%
2	Carbohydrate Metabolism, Inborn Errors	34.4%
3	Metal Metabolism, Inborn Errors	34.4%
4	Progeria	34.4%
5	Peroxisomal Disorders	34.4%
6	Mucopolysaccharidosis III	30.1%
7	Glycogen storage disease type II	29.1%
8	Brain Diseases, Metabolic, Inborn	27.9%
9	Smith-Lemli-Opitz Syndrome	26.3%
10	Mucopolysaccharidosis II	25%
11	Galactosemias	24.9%
12	Urea Cycle Disorders, Inborn	24.9%
13	Tyrosinemias	24.9%
14	Cytochrome-c Oxidase Deficiency	24.6%
15	Gaucher Disease	23.2%
16	Leigh Disease	22.9%
17	Alkaptonuria	22.6%
18	Glycogen Storage Disease	22.6%
19	Hypophosphatasia	22.6%
20	Propionic acidemia	22.6%
21	Dihydropyrimidine Dehydrogenase Deficiency	22.6%
22	Hyperphosphaturia	22.2%
23	Hypolipoproteinemias	21.9%
24	Pseudohypoparathyroidism	21.5%
25	Hyperlipidemia, Familial Combined	20.9%
26	Hyperhomocysteinemia	20.6%
27	Fabry Disease	20.4%
28	Hyperlipoproteinemia Type III	20.4%
29	Lactose Intolerance	20%
30	Werner Syndrome	20%
31	Menkes Kinky Hair Syndrome	19.9%
32	Homocystinuria	19.8%
33	Carbamoyl-Phosphate Synthase I Deficiency Disease	19.7%
34	Tay-Sachs Disease	19.5%
35	Niemann-Pick Disease, Type C	19%
36	Hyperlipoproteinemia Type IV	18.9%
37	Hyperlipoproteinemia Type V	18.9%
38	Hepatolenticular Degeneration	17.9%
39	Adrenoleukodystrophy	17.8%
40	Zellweger Syndrome	17.7%
41	Refsum Disease	17.4%
42	Wasting Syndrome	16.9%
43	Albinism	16.8%
44	Glycogen Storage Disease Type I	16.8%
45	Glycogen Storage Disease Type V	16.8%
46	Acid-Base Imbalance	16.7%
47	Calcium Metabolism Disorders	16.7%
48	Iron Metabolism Disorders	16.7%
49	Neuronal Ceroid-Lipofuscinoses	16.7%
50	Phosphorus Metabolism Disorders	16.7%
51	Water-Electrolyte Imbalance	16.7%
52	Lipid Metabolism Disorders	16.7%
53	Mitochondrial Diseases	16.7%
54	Glucose Metabolism Disorders	16.7%
55	Amyloid Neuropathies, Familial	16.5%
56	Hypoalphalipoproteinemias	16.3%
57	Renal tubular acidosis	15.6%
58	Familial Periodic Paralysis	15.4%
59	Ichthyosis, X-Linked	15.1%
60	Renal Aminoacidurias	15%
61	Fanconi Syndrome	15%
62	Pseudohypoaldosteronism	15%
63	Liddle Syndrome	15%
64	Hypercalcemia	14.8%
65	Hypocalcemia	14.8%
66	Milk-Alkali Syndrome	14.8%
67	Antley-Bixler Syndrome Phenotype	13.9%
68	Familial Hypophosphatemic Rickets	13.9%
69	Gout	13.2%
70	Neoplastic Syndromes, Hereditary	13.2%
71	Osteopenia	12.7%
72	Brain Diseases, Metabolic	12.5%
73	Multiple Epiphyseal Dysplasia	12.5%
74	Osteochondrodysplasias	12.5%
75	Pelger-Huet Anomaly	12.5%
76	Myasthenic Syndromes, Congenital	12.5%
77	Cockayne Syndrome	12.3%
78	Glycosuria, Renal	12.1%
79	Sjogren-Larsson Syndrome	12.1%
80	CHARGE Syndrome	12%
81	Lipodystrophy	11.8%
82	Cystic Fibrosis	11.5%
83	Hypokalemic periodic paralysis	11.3%
84	MELAS Syndrome	11.2%
85	Cystinuria	11.2%
86	Canavan Disease	11.1%
87	Alexander Disease	11.1%
88	Rickets	10.5%
89	Deformity	10.5%
90	Nutrition Disorders	10.5%
91	Aicardi's syndrome	10.5%
92	Dwarfism	10.4%
93	Nail-Patella Syndrome	10.1%
94	Porphyrias, Hepatic	10%
95	Muscular Dystrophy	9.9%
96	Osteogenesis Imperfecta	9.9%
97	Beckwith-Wiedemann Syndrome	9.9%
98	Wolf-Hirschhorn Syndrome	9.9%
99	Bloom Syndrome	9.8%
100	Anemia, Sickle Cell	9.8%
101	Thalassemia	9.8%
102	Acidosis	9.8%
103	Alkalosis	9.8%
104	Amyloidosis	9.8%
105	Calcinosis	9.8%
106	Hyperglycemia	9.8%
107	Hyperinsulinism	9.8%
108	Hyperkalemia	9.8%
109	Hypernatremia	9.8%
110	Hypoglycemia	9.8%
111	Hypokalemia	9.8%
112	Hyponatremia	9.8%
113	Familial Mediterranean Fever	9.8%
114	Xanthomatosis	9.8%
115	Hypophosphatemia	9.8%
116	Metabolic acidosis	9.8%
117	Dyslipidemias	9.8%
118	Iron Overload	9.8%
119	Xanthoma	9.8%
120	Muscular Dystrophy, Duchenne	9.8%
121	Fanconi Anemia	9.7%
122	Arthritis, Gouty	9.7%
123	Congenital Hyperinsulinism	9.4%
124	Fragile X Syndrome	9.2%
125	Ataxia Telangiectasia	8.9%
126	Autoimmune Lymphoproliferative Syndrome	8.4%
127	Smith-Magenis syndrome	8.3%
128	Cri-du-Chat Syndrome	8.2%
129	Down Syndrome	8.2%
130	Angioedemas, Hereditary	8.2%
131	Trisomy 21	8.2%
132	Prader-Willi Syndrome	7.9%
133	Fetal Diseases	7.9%
134	Diabetes Mellitus	7.8%
135	Rett Syndrome	7.7%
136	Optic Atrophy, Hereditary, Leber	7.6%
137	Dehydration	7.5%
138	Lipomatosis	7.5%
139	Water Intoxication	7.5%
140	Marfan Syndrome	7.4%
141	Alstrom Syndrome	7.4%
142	Achlorhydria	7.4%
143	Osteoporosis	7.4%
144	Bone Demineralization, Pathologic	7.4%
145	Post-Traumatic Osteoporosis	7.4%
146	Wiskott-Aldrich Syndrome	7.4%
147	Celiac Disease	7.3%
148	Sprue, Tropical	7.3%
149	Steatorrhea	7.3%
150	Sprue	7.3%
151	Ectodermal Dysplasia	7.1%
152	Aplasia Cutis Congenita	7.1%
153	Osteomalacia	7%
154	Xeroderma Pigmentosum	7%
155	Mitochondrial Encephalomyopathies	7%
156	Holoprosencephaly	6.9%
157	Friedreich Ataxia	6.9%
158	Kartagener Syndrome	6.9%
159	Diabetic Ketoacidosis	6.8%
160	Kallmann Syndrome	6.7%
161	Myotonic Dystrophy	6.5%
162	Polycystic Kidney Diseases	6.5%
163	Williams Syndrome	6.5%
164	Nesidioblastosis	6.5%
165	Variegate Porphyria	6.5%
166	Acute intermittent porphyria	6.5%
167	Porphyria Cutanea Tarda	6.5%
168	Acidosis, Lactic	6.5%
169	Calciphylaxis	6.5%
170	Hemosiderosis	6.5%
171	Ketosis	6.5%
172	Ketonuria	6.5%
173	Ketoacidosis	6.5%
174	Ketonemia	6.5%
175	Vascular calcification	6.5%
176	Primary Ciliary Dyskinesia	6.4%
177	Sickle Cell Trait	6.4%
178	Rubinstein-Taybi Syndrome	6.2%
179	Cutis Laxa	6%
180	Mitochondrial Myopathies	6%
181	Tuberous Sclerosis	6%
182	Retinitis Pigmentosa	6%
183	Myelinolysis, Central Pontine	6%
184	Pigmentary retinopathy	6%
185	Porokeratosis	5.9%
186	Keratoderma, Palmoplantar	5.9%
187	Glycosuria	5.9%
188	Chronic granulomatous disease	5.9%
189	Reye Syndrome	5.9%
190	Hepatic Encephalopathy	5.8%
191	Retinal Dysplasia	5.8%
192	Welander Distal Myopathy	5.8%
193	Aniridia	5.8%
194	Epidermolysis Bullosa	5.7%
195	HIV Wasting Syndrome	5.6%
196	Abdominal Cramps	5.6%
197	Abnormalities, Drug-Induced	5.6%
198	Amniotic Band Syndrome	5.6%
199	Asphyxia Neonatorum	5.6%
200	Child Nutrition Disorders	5.6%
201	Hypervitaminosis A	5.6%
202	Infant Nutrition Disorders	5.6%
203	Infant, Premature, Diseases	5.6%
204	Situs Inversus	5.6%
205	Malnutrition	5.6%
206	Infantile Colic	5.6%
207	Duane Retraction Syndrome	5.1%
208	Kernicterus	5%
209	Acute Chest Syndrome	4.9%
210	Peutz-Jeghers Syndrome	4.9%
211	Myotonia Congenita	4.9%
212	Thrombasthenia	4.9%
213	Antithrombin III Deficiency	4.9%
214	Necrobiosis Lipoidica Diabeticorum	4.9%
215	Protein C Deficiency	4.9%
216	Afibrinogenemia	4.9%
217	Dystonia Musculorum Deformans	4.9%
218	Factor VII Deficiency	4.9%
219	Factor X Deficiency	4.9%
220	Factor XII Deficiency	4.9%
221	Hemophilia A	4.9%
222	Activated Protein C Resistance	4.9%
223	Factor II deficiency	4.9%
224	Factor VIII Deficiency	4.9%
225	Factor V deficiency	4.9%
226	Factor XI Deficiency	4.9%
227	Hypoprothrombinemias	4.9%
228	Acidosis, Respiratory	4.9%
229	Adiposis Dolorosa	4.9%
230	Alkalosis, Respiratory	4.9%
231	Meconium Aspiration Syndrome	4.9%
232	HIV-Associated Lipodystrophy Syndrome	4.8%
233	Lafora Disease	4.8%
234	Unverricht-Lundborg Syndrome	4.8%
235	Insulin Resistance	4.8%
236	Osteoporosis, Postmenopausal	4.8%
237	Anemia, Diamond-Blackfan	4.8%
238	Hypercholesterolemia	4.8%
239	Hyperlipoproteinemias	4.8%
240	Hypertriglyceridemia	4.8%
241	Wernicke Encephalopathy	4.7%
242	Renal Osteodystrophy	4.7%
243	Renal rickets	4.7%
244	Xeroderma	4.4%
245	Mobius Syndrome	4.4%
246	Pseudoxanthoma Elasticum	4.4%
247	Eye Abnormalities	4.4%
248	Cardiovascular Abnormalities	4.4%
249	Multiple Endocrine Neoplasia	4.4%
250	Polycystic Kidney, Autosomal Dominant	4.3%
251	Congenital Hypothyroidism	4.3%
252	Dermatitis, Atopic	4.2%
253	Skin Abnormalities	4.2%
254	Lymphatic Abnormalities	4.2%
255	Congenital Microtia	4.2%
256	Anemia, Neonatal	4.2%
257	Persistent Fetal Circulation Syndrome	4.2%
258	Congenital diaphragmatic hernia	4.1%
259	Umbilical hernia	4.1%
260	Gestational Diabetes	4%
261	Latent Autoimmune Diabetes in Adults	4%
262	Classical Lissencephalies and Subcortical Band Heterotopias	4%
263	Diabetes Mellitus, Experimental	4%
264	Nephrocalcinosis	3.9%
265	Tetany	3.9%
266	Papillon-Lefevre Disease	3.9%
267	Cerebral Amyloid Angiopathy	3.8%
268	Hyperkeratosis, Epidermolytic	3.8%
269	Behcet Syndrome	3.7%
270	Charcot-Marie-Tooth Disease	3.7%
271	Kearns-Sayre syndrome	3.6%
272	Basal Cell Nevus Syndrome	3.6%
273	Urogenital Abnormalities	3.5%
274	Neonatal Abstinence Syndrome	3.4%
275	Fetal Growth Retardation	3.3%
276	Fetal Hypoxia	3.3%
277	Congenital nystagmus	3.3%
278	Fetal Alcohol Spectrum Disorders	3.3%
279	Toxoplasmosis, Congenital	3.3%
280	Primary amyloidosis	3.3%
281	Anencephaly	3.3%
282	Syphilis, Congenital	3.3%
283	Huntington Disease	3.3%
284	Deficiency Diseases	3.3%
285	Prune Belly Syndrome	3.3%
286	Starvation	3.3%
287	Twins, Conjoined	3.3%
288	Refeeding Syndrome	3.3%
289	Waardenburg Syndrome	3.3%
290	Nephroblastoma	2.9%
291	Amyotrophic Lateral Sclerosis	2.8%
292	Multiple Endocrine Neoplasia Type 1	2.8%
293	Chorioamnionitis	2.8%
294	Maxillofacial Abnormalities	2.8%
295	Dural Arteriovenous Fistula	2.8%
296	Hydrops Fetalis	2.7%
297	Dextrocardia	2.7%
298	Klinefelter Syndrome	2.7%
299	Adenomatous Polyposis Coli	2.6%
300	Anophthalmos	2.5%
301	Anus, Imperforate	2.5%
302	Hydranencephaly	2.5%
303	Microphthalmos	2.5%
304	Neural Tube Defects	2.5%
305	Paralysis, Obstetric	2.5%
306	Retinopathy of Prematurity	2.5%
307	Tethered Cord Syndrome	2.5%
308	Iniencephaly	2.5%
309	Craniorachischisis	2.5%
310	Limb Deformities, Congenital	2.5%
311	Exencephaly	2.5%
312	Septo-Optic Dysplasia	2.5%
313	Craniofacial Abnormalities	2.5%
314	Cortical Dysplasia	2.5%
315	Malformations of Cortical Development	2.5%
316	Anorectal Malformations	2.5%
317	Bronchopulmonary Dysplasia	2.4%
318	CREST Syndrome	2.4%
319	Frontotemporal dementia	2.4%
320	Turner Syndrome	2.4%
321	Abnormalities, Radiation-Induced	2.4%
322	Kwashiorkor	2.2%
323	Magnesium Deficiency	2.2%
324	Potassium Deficiency	2.2%
325	Protein Deficiency	2.2%
326	Avitaminosis	2.2%
327	Scimitar Syndrome	2.1%
328	Ophthalmia Neonatorum	2%
329	Blepharophimosis	2%
330	Laryngostenosis	2%
331	Mouth Abnormalities	2%
332	Respiratory Distress Syndrome, Newborn	2%
333	Esophageal Atresia	2%
334	Intestinal Atresia	2%
335	Horseshoe Kidney	2%
336	Pectus excavatum	2%
337	Klippel-Feil Syndrome	2%
338	Gastroschisis	2%
339	Synostosis	2%
340	Acrodermatitis	2%
341	Lymphangiectasis, Intestinal	2%
342	Gianotti-Crosti Syndrome	2%
343	Microcephaly	1.9%
344	Macrocephaly	1.9%
345	Craniosynostosis	1.9%
346	Syndactyly	1.9%
347	Brachycephaly	1.9%
348	Denys-Drash Syndrome	1.7%
349	Arthrogryposis	1.7%
350	Choanal Atresia	1.7%
351	Tracheobronchomegaly	1.7%
352	Laryngocele	1.7%
353	Choledochal Cyst	1.7%
354	Hermaphroditism	1.7%
355	Disorders of Sex Development	1.7%
356	Cryptorchidism	1.7%
357	Hypospadias	1.7%
358	Central Nervous System Cysts	1.7%
359	Noonan Syndrome	1.7%
360	Dandy-Walker Syndrome	1.6%
361	Leukomalacia, Periventricular	1.6%
362	POEMS Syndrome	1.6%
363	Amelia	1.6%
364	Arachnodactyly	1.6%
365	Ectopia Cordis	1.6%
366	Ectromelia	1.6%
367	Hemimelia	1.6%
368	Meningomyelocele	1.6%
369	Phocomelia	1.6%
370	Sirenomelia	1.6%
371	Spina Bifida	1.6%
372	Polydactyly	1.6%
373	Brachydactyly	1.6%
374	Plagiocephaly	1.6%
375	Lower Extremity Deformities, Congenital	1.6%
376	Upper Extremity Deformities, Congenital	1.6%
377	Single umbilical artery	1.6%
378	Obesity	1.6%
379	Ascorbic Acid Deficiency	1.6%
380	Vitamin A Deficiency	1.6%
381	Vitamin D Deficiency	1.6%
382	Vitamin E Deficiency	1.6%
383	Marasmus	1.6%
384	Porencephaly	1.6%
385	Acrocephalosyndactylia	1.6%
386	Laryngomalacia	1.5%
387	Jaw Abnormalities	1.4%
388	Pectus carinatum	1.4%
389	Bladder Exstrophy	1.4%
390	Epispadias	1.4%
391	Multicystic Dysplastic Kidney	1.4%
392	Cleft Palate	1.4%
393	Poland Syndrome	1.4%
394	Folic Acid Deficiency	1.3%
395	Pellagra	1.3%
396	Thiamine Deficiency	1.3%
397	Vitamin B 12 Deficiency	1.3%
398	Vitamin B 6 Deficiency	1.3%
399	Pyridoxine Deficiency	1.3%
400	Aortic coarctation	1.3%
401	Cor Triatriatum	1.3%
402	Coronary Vessel Anomalies	1.3%
403	Dental Enamel Hypoplasia	1.3%
404	Patent ductus arteriosus	1.3%
405	Ebstein Anomaly	1.3%
406	Heart Septal Defects	1.3%
407	Hyaline Membrane Disease	1.3%
408	Hypodontia	1.3%
409	Macrostomia	1.3%
410	Meningocele	1.3%
411	Microstomia	1.3%
412	Tetralogy of Fallot	1.3%
413	Transposition of Great Vessels	1.3%
414	Hypoplastic Left Heart Syndrome	1.3%
415	May-Thurner Syndrome	1.3%
416	Encephalocele	1.3%
417	Craniofacial Dysostosis	1.3%
418	Wolff-Parkinson-White Syndrome	1.3%
419	Obesity, Abdominal	1.3%
420	Dermal Sinus	1.2%
421	Spina Bifida Cystica	1.2%
422	Spina Bifida Occulta	1.2%
423	Lissencephaly	1.2%
424	Polymicrogyria	1.2%
425	Pachygyria	1.2%
426	Schizencephaly	1.2%
427	Periventricular Nodular Heterotopia	1.2%
428	Beriberi	1.2%
429	Micrognathism	1.1%
430	Pierre Robin Syndrome	1.1%
431	Long QT Syndrome	1.1%
432	Platybasia	1.1%
433	Tricuspid Atresia	1.1%
434	Arrhythmogenic Right Ventricular Dysplasia	1.1%
435	Gonadal Dysgenesis	1.1%
436	Bronchomalacia	1.1%
437	Adrenogenital Syndrome	1.1%
438	Tracheomalacia	1.1%
439	Ovotesticular Disorders of Sex Development	1.1%
440	Pediatric Obesity	1.1%
441	Retrognathia	1%
442	Vitamin K Deficiency	1%
443	Aortopulmonary Septal Defect	1%
444	Double Outlet Right Ventricle	1%
445	Endocardial Cushion Defects	1%
446	Myocardial bridging	1%
447	Aorticopulmonary Septal Defect	1%
448	Hyperandrogenism	1%
449	Anemia, Pernicious	0.9%
450	Prognathism	0.9%
451	Scurvy	0.8%
452	Mandibulofacial Dysostosis	0.8%
453	Romano-Ward Syndrome	0.8%
454	Truncus Arteriosus, Persistent	0.8%
455	Goldenhar Syndrome	0.8%
456	Talipes	0.7%
457	Arteriovenous fistula	0.6%
458	Congenital clubfoot	0.6%
459	Vertical Talus	0.6%
460	Subacute Combined Degeneration	0.5%

Page last updated at 2020-05-25 10:01:57 (Asia/Shanghai) | You are visitor No. 120262