MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Dihydropyrimidine Dehydrogenase Deficiency

(UMLS:C1959620)

Definition:: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.
UMLS ID:: C1959620
MeSH ID:: D054067

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320.565.798.183

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.648.798.183

Synonym(s)

Dihydropyrimidine Dehydrogenase Deficiency

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

DPD Deficiency

DPD deficiency

DYPD Deficiency

Dihydropyrimidine dehydrogenase deficiency

Dihydrothymine dehydrogenase deficiency

Dihydrouracil Dehydrogenase Deficiency

Dihydrouracil dehydrogenase (NADP) deficiency

10.

Dihydrouracil dehydrogenase (NADP+) deficiency

11.

Dihydrouracil dehydrogenase (NADP^+^) deficiency

12.

Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency

13.

Familial pyrimidinemia

14.

Hereditary thymine-uraciluria

15.

Sensitivity to fluorouracil toxicity

Associated Drug(s)

	Name	Number of Reports	Data Source
1	Capecitabine	FAERS: 62 Canada Vigilance: 2	Canada Vigilance OFFSIDES US FAERS
2	Fluorouracil	FAERS: 9	OFFSIDES US FAERS
3	Docetaxel	FAERS: 1	US FAERS
4	Dexrazoxane		OFFSIDES
5	Leucovorin		OFFSIDES
6	Mannitol		OFFSIDES
7	Morphine		OFFSIDES

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	Lysosomal Storage Diseases	34.4%
6	Peroxisomal Disorders	34.4%
7	Gout	28.3%
8	Brain Diseases, Metabolic, Inborn	27.9%
9	Smith-Lemli-Opitz Syndrome	26.3%
10	Galactosemias	24.9%
11	Urea Cycle Disorders, Inborn	24.9%
12	Tyrosinemias	24.9%
13	Cytochrome-c Oxidase Deficiency	24.6%
14	Leigh Disease	22.9%
15	Alkaptonuria	22.6%
16	Glycogen Storage Disease	22.6%
17	Hypophosphatasia	22.6%
18	Propionic acidemia	22.6%
19	Cystinosis	22.6%
20	Hyperphosphaturia	22.2%
21	Hypolipoproteinemias	21.9%
22	Pseudohypoparathyroidism	21.5%
23	Glycogen storage disease type II	21.5%
24	Hyperlipidemia, Familial Combined	20.9%
25	Arthritis, Gouty	20.7%
26	Hyperhomocysteinemia	20.6%
27	Hyperlipoproteinemia Type III	20.4%
28	Lactose Intolerance	20%
29	Werner Syndrome	20%
30	Menkes Kinky Hair Syndrome	19.9%
31	Homocystinuria	19.8%
32	Carbamoyl-Phosphate Synthase I Deficiency Disease	19.7%
33	Mucopolysaccharidosis III	19.2%
34	Hyperlipoproteinemia Type IV	18.9%
35	Hyperlipoproteinemia Type V	18.9%
36	Hepatolenticular Degeneration	17.9%
37	Adrenoleukodystrophy	17.8%
38	Zellweger Syndrome	17.7%
39	Gaucher Disease	17.5%
40	Refsum Disease	17.4%
41	Mucopolysaccharidosis II	17.3%
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	Fabry Disease	15.8%
58	Renal tubular acidosis	15.6%
59	Familial Periodic Paralysis	15.4%
60	Ichthyosis, X-Linked	15.1%
61	Renal Aminoacidurias	15%
62	Fanconi Syndrome	15%
63	Pseudohypoaldosteronism	15%
64	Liddle Syndrome	15%
65	Hypercalcemia	14.8%
66	Hypocalcemia	14.8%
67	Milk-Alkali Syndrome	14.8%
68	Tay-Sachs Disease	14.6%
69	Niemann-Pick Disease, Type C	14.3%
70	Antley-Bixler Syndrome Phenotype	13.9%
71	Familial Hypophosphatemic Rickets	13.9%
72	Neoplastic Syndromes, Hereditary	13.2%
73	Osteopenia	12.7%
74	Brain Diseases, Metabolic	12.5%
75	Multiple Epiphyseal Dysplasia	12.5%
76	Osteochondrodysplasias	12.5%
77	Pelger-Huet Anomaly	12.5%
78	Myasthenic Syndromes, Congenital	12.5%
79	Cockayne Syndrome	12.3%
80	Glycosuria, Renal	12.1%
81	Sjogren-Larsson Syndrome	12.1%
82	CHARGE Syndrome	12%
83	Lipodystrophy	11.8%
84	Cystic Fibrosis	11.5%
85	Hypokalemic periodic paralysis	11.3%
86	MELAS Syndrome	11.2%
87	Cystinuria	11.2%
88	Canavan Disease	11.1%
89	Alexander Disease	11.1%
90	Rickets	10.5%
91	Deformity	10.5%
92	Nutrition Disorders	10.5%
93	Aicardi's syndrome	10.5%
94	Dwarfism	10.4%
95	Nail-Patella Syndrome	10.1%
96	Porphyrias, Hepatic	10%
97	Muscular Dystrophy	9.9%
98	Osteogenesis Imperfecta	9.9%
99	Beckwith-Wiedemann Syndrome	9.9%
100	Wolf-Hirschhorn Syndrome	9.9%
101	Bloom Syndrome	9.8%
102	Anemia, Sickle Cell	9.8%
103	Thalassemia	9.8%
104	Acidosis	9.8%
105	Alkalosis	9.8%
106	Amyloidosis	9.8%
107	Calcinosis	9.8%
108	Hyperglycemia	9.8%
109	Hyperinsulinism	9.8%
110	Hyperkalemia	9.8%
111	Hypernatremia	9.8%
112	Hypoglycemia	9.8%
113	Hypokalemia	9.8%
114	Hyponatremia	9.8%
115	Familial Mediterranean Fever	9.8%
116	Xanthomatosis	9.8%
117	Hypophosphatemia	9.8%
118	Metabolic acidosis	9.8%
119	Dyslipidemias	9.8%
120	Iron Overload	9.8%
121	Xanthoma	9.8%
122	Muscular Dystrophy, Duchenne	9.8%
123	Fanconi Anemia	9.7%
124	Congenital Hyperinsulinism	9.4%
125	Fragile X Syndrome	9.2%
126	Ataxia Telangiectasia	8.9%
127	Autoimmune Lymphoproliferative Syndrome	8.4%
128	Smith-Magenis syndrome	8.3%
129	Cri-du-Chat Syndrome	8.2%
130	Down Syndrome	8.2%
131	Angioedemas, Hereditary	8.2%
132	Trisomy 21	8.2%
133	Prader-Willi Syndrome	7.9%
134	Fetal Diseases	7.9%
135	Diabetes Mellitus	7.8%
136	Rett Syndrome	7.7%
137	Optic Atrophy, Hereditary, Leber	7.6%
138	Dehydration	7.5%
139	Lipomatosis	7.5%
140	Water Intoxication	7.5%
141	Marfan Syndrome	7.4%
142	Alstrom Syndrome	7.4%
143	Achlorhydria	7.4%
144	Osteoporosis	7.4%
145	Bone Demineralization, Pathologic	7.4%
146	Post-Traumatic Osteoporosis	7.4%
147	Wiskott-Aldrich Syndrome	7.4%
148	Celiac Disease	7.3%
149	Sprue, Tropical	7.3%
150	Steatorrhea	7.3%
151	Sprue	7.3%
152	Ectodermal Dysplasia	7.1%
153	Aplasia Cutis Congenita	7.1%
154	Osteomalacia	7%
155	Xeroderma Pigmentosum	7%
156	Mitochondrial Encephalomyopathies	7%
157	Holoprosencephaly	6.9%
158	Friedreich Ataxia	6.9%
159	Kartagener Syndrome	6.9%
160	Diabetic Ketoacidosis	6.8%
161	Kallmann Syndrome	6.7%
162	Myotonic Dystrophy	6.5%
163	Polycystic Kidney Diseases	6.5%
164	Williams Syndrome	6.5%
165	Nesidioblastosis	6.5%
166	Variegate Porphyria	6.5%
167	Acute intermittent porphyria	6.5%
168	Porphyria Cutanea Tarda	6.5%
169	Acidosis, Lactic	6.5%
170	Calciphylaxis	6.5%
171	Hemosiderosis	6.5%
172	Ketosis	6.5%
173	Ketonuria	6.5%
174	Ketoacidosis	6.5%
175	Ketonemia	6.5%
176	Vascular calcification	6.5%
177	Primary Ciliary Dyskinesia	6.4%
178	Sickle Cell Trait	6.4%
179	Rubinstein-Taybi Syndrome	6.2%
180	Cutis Laxa	6%
181	Mitochondrial Myopathies	6%
182	Tuberous Sclerosis	6%
183	Retinitis Pigmentosa	6%
184	Myelinolysis, Central Pontine	6%
185	Pigmentary retinopathy	6%
186	Porokeratosis	5.9%
187	Keratoderma, Palmoplantar	5.9%
188	Glycosuria	5.9%
189	Chronic granulomatous disease	5.9%
190	Reye Syndrome	5.9%
191	Hepatic Encephalopathy	5.8%
192	Retinal Dysplasia	5.8%
193	Welander Distal Myopathy	5.8%
194	Aniridia	5.8%
195	Epidermolysis Bullosa	5.7%
196	HIV Wasting Syndrome	5.6%
197	Abdominal Cramps	5.6%
198	Abnormalities, Drug-Induced	5.6%
199	Amniotic Band Syndrome	5.6%
200	Asphyxia Neonatorum	5.6%
201	Child Nutrition Disorders	5.6%
202	Hypervitaminosis A	5.6%
203	Infant Nutrition Disorders	5.6%
204	Infant, Premature, Diseases	5.6%
205	Situs Inversus	5.6%
206	Malnutrition	5.6%
207	Infantile Colic	5.6%
208	Duane Retraction Syndrome	5.1%
209	Kernicterus	5%
210	Acute Chest Syndrome	4.9%
211	Peutz-Jeghers Syndrome	4.9%
212	Myotonia Congenita	4.9%
213	Thrombasthenia	4.9%
214	Antithrombin III Deficiency	4.9%
215	Necrobiosis Lipoidica Diabeticorum	4.9%
216	Protein C Deficiency	4.9%
217	Afibrinogenemia	4.9%
218	Dystonia Musculorum Deformans	4.9%
219	Factor VII Deficiency	4.9%
220	Factor X Deficiency	4.9%
221	Factor XII Deficiency	4.9%
222	Hemophilia A	4.9%
223	Activated Protein C Resistance	4.9%
224	Factor II deficiency	4.9%
225	Factor VIII Deficiency	4.9%
226	Factor V deficiency	4.9%
227	Factor XI Deficiency	4.9%
228	Hypoprothrombinemias	4.9%
229	Acidosis, Respiratory	4.9%
230	Adiposis Dolorosa	4.9%
231	Alkalosis, Respiratory	4.9%
232	Meconium Aspiration Syndrome	4.9%
233	HIV-Associated Lipodystrophy Syndrome	4.8%
234	Lafora Disease	4.8%
235	Unverricht-Lundborg Syndrome	4.8%
236	Insulin Resistance	4.8%
237	Osteoporosis, Postmenopausal	4.8%
238	Anemia, Diamond-Blackfan	4.8%
239	Hypercholesterolemia	4.8%
240	Hyperlipoproteinemias	4.8%
241	Hypertriglyceridemia	4.8%
242	Wernicke Encephalopathy	4.7%
243	Renal Osteodystrophy	4.7%
244	Renal rickets	4.7%
245	Xeroderma	4.4%
246	Mobius Syndrome	4.4%
247	Pseudoxanthoma Elasticum	4.4%
248	Eye Abnormalities	4.4%
249	Cardiovascular Abnormalities	4.4%
250	Multiple Endocrine Neoplasia	4.4%
251	Polycystic Kidney, Autosomal Dominant	4.3%
252	Congenital Hypothyroidism	4.3%
253	Dermatitis, Atopic	4.2%
254	Skin Abnormalities	4.2%
255	Lymphatic Abnormalities	4.2%
256	Congenital Microtia	4.2%
257	Anemia, Neonatal	4.2%
258	Persistent Fetal Circulation Syndrome	4.2%
259	Congenital diaphragmatic hernia	4.1%
260	Umbilical hernia	4.1%
261	Gestational Diabetes	4%
262	Latent Autoimmune Diabetes in Adults	4%
263	Classical Lissencephalies and Subcortical Band Heterotopias	4%
264	Diabetes Mellitus, Experimental	4%
265	Nephrocalcinosis	3.9%
266	Tetany	3.9%
267	Papillon-Lefevre Disease	3.9%
268	Cerebral Amyloid Angiopathy	3.8%
269	Hyperkeratosis, Epidermolytic	3.8%
270	Behcet Syndrome	3.7%
271	Charcot-Marie-Tooth Disease	3.7%
272	Kearns-Sayre syndrome	3.6%
273	Basal Cell Nevus Syndrome	3.6%
274	Urogenital Abnormalities	3.5%
275	Neonatal Abstinence Syndrome	3.4%
276	Fetal Growth Retardation	3.3%
277	Fetal Hypoxia	3.3%
278	Congenital nystagmus	3.3%
279	Fetal Alcohol Spectrum Disorders	3.3%
280	Toxoplasmosis, Congenital	3.3%
281	Primary amyloidosis	3.3%
282	Anencephaly	3.3%
283	Syphilis, Congenital	3.3%
284	Huntington Disease	3.3%
285	Deficiency Diseases	3.3%
286	Prune Belly Syndrome	3.3%
287	Starvation	3.3%
288	Twins, Conjoined	3.3%
289	Refeeding Syndrome	3.3%
290	Waardenburg Syndrome	3.3%
291	Nephroblastoma	2.9%
292	Amyotrophic Lateral Sclerosis	2.8%
293	Multiple Endocrine Neoplasia Type 1	2.8%
294	Chorioamnionitis	2.8%
295	Maxillofacial Abnormalities	2.8%
296	Dural Arteriovenous Fistula	2.8%
297	Hydrops Fetalis	2.7%
298	Dextrocardia	2.7%
299	Klinefelter Syndrome	2.7%
300	Adenomatous Polyposis Coli	2.6%
301	Anophthalmos	2.5%
302	Anus, Imperforate	2.5%
303	Hydranencephaly	2.5%
304	Microphthalmos	2.5%
305	Neural Tube Defects	2.5%
306	Paralysis, Obstetric	2.5%
307	Retinopathy of Prematurity	2.5%
308	Tethered Cord Syndrome	2.5%
309	Iniencephaly	2.5%
310	Craniorachischisis	2.5%
311	Limb Deformities, Congenital	2.5%
312	Exencephaly	2.5%
313	Septo-Optic Dysplasia	2.5%
314	Craniofacial Abnormalities	2.5%
315	Cortical Dysplasia	2.5%
316	Malformations of Cortical Development	2.5%
317	Anorectal Malformations	2.5%
318	Bronchopulmonary Dysplasia	2.4%
319	CREST Syndrome	2.4%
320	Frontotemporal dementia	2.4%
321	Turner Syndrome	2.4%
322	Abnormalities, Radiation-Induced	2.4%
323	Kwashiorkor	2.2%
324	Magnesium Deficiency	2.2%
325	Potassium Deficiency	2.2%
326	Protein Deficiency	2.2%
327	Avitaminosis	2.2%
328	Scimitar Syndrome	2.1%
329	Ophthalmia Neonatorum	2%
330	Blepharophimosis	2%
331	Laryngostenosis	2%
332	Mouth Abnormalities	2%
333	Respiratory Distress Syndrome, Newborn	2%
334	Esophageal Atresia	2%
335	Intestinal Atresia	2%
336	Horseshoe Kidney	2%
337	Pectus excavatum	2%
338	Klippel-Feil Syndrome	2%
339	Gastroschisis	2%
340	Synostosis	2%
341	Acrodermatitis	2%
342	Lymphangiectasis, Intestinal	2%
343	Gianotti-Crosti Syndrome	2%
344	Microcephaly	1.9%
345	Macrocephaly	1.9%
346	Craniosynostosis	1.9%
347	Syndactyly	1.9%
348	Brachycephaly	1.9%
349	Denys-Drash Syndrome	1.7%
350	Arthrogryposis	1.7%
351	Choanal Atresia	1.7%
352	Tracheobronchomegaly	1.7%
353	Laryngocele	1.7%
354	Choledochal Cyst	1.7%
355	Hermaphroditism	1.7%
356	Disorders of Sex Development	1.7%
357	Cryptorchidism	1.7%
358	Hypospadias	1.7%
359	Central Nervous System Cysts	1.7%
360	Noonan Syndrome	1.7%
361	Dandy-Walker Syndrome	1.6%
362	Leukomalacia, Periventricular	1.6%
363	POEMS Syndrome	1.6%
364	Amelia	1.6%
365	Arachnodactyly	1.6%
366	Ectopia Cordis	1.6%
367	Ectromelia	1.6%
368	Hemimelia	1.6%
369	Meningomyelocele	1.6%
370	Phocomelia	1.6%
371	Sirenomelia	1.6%
372	Spina Bifida	1.6%
373	Polydactyly	1.6%
374	Brachydactyly	1.6%
375	Plagiocephaly	1.6%
376	Lower Extremity Deformities, Congenital	1.6%
377	Upper Extremity Deformities, Congenital	1.6%
378	Single umbilical artery	1.6%
379	Obesity	1.6%
380	Ascorbic Acid Deficiency	1.6%
381	Vitamin A Deficiency	1.6%
382	Vitamin D Deficiency	1.6%
383	Vitamin E Deficiency	1.6%
384	Marasmus	1.6%
385	Porencephaly	1.6%
386	Acrocephalosyndactylia	1.6%
387	Laryngomalacia	1.5%
388	Jaw Abnormalities	1.4%
389	Pectus carinatum	1.4%
390	Bladder Exstrophy	1.4%
391	Epispadias	1.4%
392	Multicystic Dysplastic Kidney	1.4%
393	Cleft Palate	1.4%
394	Poland Syndrome	1.4%
395	Folic Acid Deficiency	1.3%
396	Pellagra	1.3%
397	Thiamine Deficiency	1.3%
398	Vitamin B 12 Deficiency	1.3%
399	Vitamin B 6 Deficiency	1.3%
400	Pyridoxine Deficiency	1.3%
401	Aortic coarctation	1.3%
402	Cor Triatriatum	1.3%
403	Coronary Vessel Anomalies	1.3%
404	Dental Enamel Hypoplasia	1.3%
405	Patent ductus arteriosus	1.3%
406	Ebstein Anomaly	1.3%
407	Heart Septal Defects	1.3%
408	Hyaline Membrane Disease	1.3%
409	Hypodontia	1.3%
410	Macrostomia	1.3%
411	Meningocele	1.3%
412	Microstomia	1.3%
413	Tetralogy of Fallot	1.3%
414	Transposition of Great Vessels	1.3%
415	Hypoplastic Left Heart Syndrome	1.3%
416	May-Thurner Syndrome	1.3%
417	Encephalocele	1.3%
418	Craniofacial Dysostosis	1.3%
419	Wolff-Parkinson-White Syndrome	1.3%
420	Obesity, Abdominal	1.3%
421	Dermal Sinus	1.2%
422	Spina Bifida Cystica	1.2%
423	Spina Bifida Occulta	1.2%
424	Lissencephaly	1.2%
425	Polymicrogyria	1.2%
426	Pachygyria	1.2%
427	Schizencephaly	1.2%
428	Periventricular Nodular Heterotopia	1.2%
429	Beriberi	1.2%
430	Micrognathism	1.1%
431	Pierre Robin Syndrome	1.1%
432	Long QT Syndrome	1.1%
433	Platybasia	1.1%
434	Tricuspid Atresia	1.1%
435	Arrhythmogenic Right Ventricular Dysplasia	1.1%
436	Gonadal Dysgenesis	1.1%
437	Bronchomalacia	1.1%
438	Adrenogenital Syndrome	1.1%
439	Tracheomalacia	1.1%
440	Ovotesticular Disorders of Sex Development	1.1%
441	Pediatric Obesity	1.1%
442	Retrognathia	1%
443	Vitamin K Deficiency	1%
444	Aortopulmonary Septal Defect	1%
445	Double Outlet Right Ventricle	1%
446	Endocardial Cushion Defects	1%
447	Myocardial bridging	1%
448	Aorticopulmonary Septal Defect	1%
449	Hyperandrogenism	1%
450	Anemia, Pernicious	0.9%
451	Prognathism	0.9%
452	Scurvy	0.8%
453	Mandibulofacial Dysostosis	0.8%
454	Romano-Ward Syndrome	0.8%
455	Truncus Arteriosus, Persistent	0.8%
456	Goldenhar Syndrome	0.8%
457	Talipes	0.7%
458	Arteriovenous fistula	0.6%
459	Congenital clubfoot	0.6%
460	Vertical Talus	0.6%
461	Subacute Combined Degeneration	0.5%

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