MetaADEDB 2.0 @ LMMD
Peroxisomal Disorders
(UMLS:C0282528)
Definition:
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
UMLS ID:
C0282528
MeSH ID:
D018901
Classification 1:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.320.565.663
Classification 2:
Name:
Nutritional and Metabolic Diseases
MeSH Tree Number(s):
C18.452.648.663
Synonym(s)
1.
Peroxisomal Disorders
2.
Disorder of Peroxisomal Function
3.
Disorder of peroxisomal function
4.
Peroxisomal Disorder
5.
Peroxisomal Function Disorder
6.
Peroxisomal disorder, unspecified
7.
Peroxisomal disorders
8.
peroxisomal biogenesis disorder
9.
peroxisomal disorder
10.
peroxisomal disorders
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1pipecolic acid10642506CTD
Similar ADE(s)
NameSemantic Similarity
1Amino Acid Metabolism, Inborn Errors46.7%
2Carbohydrate Metabolism, Inborn Errors46.7%
3Metal Metabolism, Inborn Errors46.7%
4Progeria46.7%
5Lysosomal Storage Diseases46.7%
6Smith-Lemli-Opitz Syndrome39.6%
7Galactosemias37.7%
8Urea Cycle Disorders, Inborn37.7%
9Tyrosinemias37.7%
10Brain Diseases, Metabolic, Inborn37.6%
11Glycogen storage disease type II36%
12Leigh Disease35.3%
13Alkaptonuria34.4%
14Glycogen Storage Disease34.4%
15Hypophosphatasia34.4%
16Propionic acidemia34.4%
17Dihydropyrimidine Dehydrogenase Deficiency34.4%
18Cystinosis34.4%
19Hyperphosphaturia33.5%
20Hypolipoproteinemias33.3%
21Cytochrome-c Oxidase Deficiency33.3%
22Mucopolysaccharidosis III32.3%
23Hyperlipidemia, Familial Combined32.2%
24Carbamoyl-Phosphate Synthase I Deficiency Disease32.1%
25Hyperlipoproteinemia Type III31.7%
26Gaucher Disease31.5%
27Homocystinuria31.2%
28Pseudohypoparathyroidism31.1%
29Hyperhomocysteinemia30.6%
30Menkes Kinky Hair Syndrome30%
31Hyperlipoproteinemia Type IV29.9%
32Hyperlipoproteinemia Type V29.9%
33Lactose Intolerance29.5%
34Tay-Sachs Disease28.6%
35Glycogen Storage Disease Type I28.5%
36Glycogen Storage Disease Type V28.5%
37Mucopolysaccharidosis II28.3%
38Fabry Disease27.6%
39Hypoalphalipoproteinemias27.5%
40Niemann-Pick Disease, Type C27.1%
41Hepatolenticular Degeneration26.5%
42Neuronal Ceroid-Lipofuscinoses26.2%
43Werner Syndrome25.4%
44Amyloid Neuropathies, Familial25%
45Albinism24.4%
46Renal tubular acidosis23.7%
47Familial Periodic Paralysis23.3%
48Familial Hypophosphatemic Rickets23.3%
49Renal Aminoacidurias22.8%
50Fanconi Syndrome22.8%
51Pseudohypoaldosteronism22.8%
52Liddle Syndrome22.8%
53Ichthyosis, X-Linked21.8%
54Antley-Bixler Syndrome Phenotype21%
55Wasting Syndrome20.7%
56Acid-Base Imbalance20.5%
57Calcium Metabolism Disorders20.5%
58Iron Metabolism Disorders20.5%
59Phosphorus Metabolism Disorders20.5%
60Water-Electrolyte Imbalance20.5%
61Lipid Metabolism Disorders20.5%
62Mitochondrial Diseases20.5%
63Glucose Metabolism Disorders20.5%
64Gout20%
65Hypercalcemia20%
66Hypocalcemia20%
67Milk-Alkali Syndrome20%
68Adrenoleukodystrophy20%
69Hypokalemic periodic paralysis19%
70Cystinuria18.8%
71Sjogren-Larsson Syndrome18.7%
72Glycosuria, Renal18.3%
73Canavan Disease17.7%
74Alexander Disease17.7%
75MELAS Syndrome17.2%
76Cockayne Syndrome16.6%
77Arthritis, Gouty16.3%
78Neoplastic Syndromes, Hereditary16.1%
79Lipodystrophy16%
80Refsum Disease15.7%
81Osteopenia15.5%
82Brain Diseases, Metabolic15.3%
83Multiple Epiphyseal Dysplasia15.3%
84Osteochondrodysplasias15.3%
85Pelger-Huet Anomaly15.3%
86Myasthenic Syndromes, Congenital15.3%
87Zellweger Syndrome15%
88CHARGE Syndrome14.9%
89Rickets14.4%
90Cystic Fibrosis14%
91Aicardi's syndrome13.9%
92Fragile X Syndrome13.9%
93Porphyrias, Hepatic13.5%
94Congenital Hyperinsulinism13.5%
95Acidosis13.3%
96Alkalosis13.3%
97Amyloidosis13.3%
98Beckwith-Wiedemann Syndrome13.3%
99Bloom Syndrome13.3%
100Calcinosis13.3%
101Hyperglycemia13.3%
102Hyperinsulinism13.3%
103Hyperkalemia13.3%
104Hypernatremia13.3%
105Hypoglycemia13.3%
106Hypokalemia13.3%
107Hyponatremia13.3%
108Familial Mediterranean Fever13.3%
109Xanthomatosis13.3%
110Hypophosphatemia13.3%
111Metabolic acidosis13.3%
112Dyslipidemias13.3%
113Iron Overload13.3%
114Xanthoma13.3%
115Wolf-Hirschhorn Syndrome13.3%
116Anemia, Sickle Cell13.2%
117Thalassemia13.2%
118Muscular Dystrophy, Duchenne13.2%
119Fanconi Anemia13.1%
120Dwarfism12.7%
121Nail-Patella Syndrome12.5%
122Muscular Dystrophy12.1%
123Osteogenesis Imperfecta12.1%
124Deformity11.9%
125Nutrition Disorders11.9%
126Rett Syndrome11.7%
127Smith-Magenis syndrome11.2%
128Ataxia Telangiectasia11.2%
129Cri-du-Chat Syndrome11%
130Down Syndrome11%
131Trisomy 2111%
132Optic Atrophy, Hereditary, Leber10.9%
133Osteomalacia10.9%
134Prader-Willi Syndrome10.8%
135Diabetic Ketoacidosis10.8%
136Alstrom Syndrome10.7%
137Diabetes Mellitus10.5%
138Nesidioblastosis10.4%
139Autoimmune Lymphoproliferative Syndrome10.2%
140Dehydration10.2%
141Lipomatosis10.2%
142Water Intoxication10.2%
143Achlorhydria10%
144Osteoporosis10%
145Bone Demineralization, Pathologic10%
146Post-Traumatic Osteoporosis10%
147Angioedemas, Hereditary9.9%
148Celiac Disease9.9%
149Sprue, Tropical9.9%
150Steatorrhea9.9%
151Sprue9.9%
152Wiskott-Aldrich Syndrome9.9%
153Acidosis, Lactic9.9%
154Calciphylaxis9.9%
155Hemosiderosis9.9%
156Ketosis9.9%
157Ketonuria9.9%
158Ketoacidosis9.9%
159Ketonemia9.9%
160Vascular calcification9.9%
161Mitochondrial Encephalomyopathies9.9%
162Variegate Porphyria9.8%
163Acute intermittent porphyria9.8%
164Porphyria Cutanea Tarda9.8%
165Friedreich Ataxia9.8%
166Sickle Cell Trait9.7%
167Holoprosencephaly9.6%
168Ectodermal Dysplasia9.5%
169Aplasia Cutis Congenita9.5%
170Xeroderma Pigmentosum9.4%
171Marfan Syndrome9.4%
172Kartagener Syndrome9.3%
173Fetal Diseases8.9%
174Primary Ciliary Dyskinesia8.9%
175Myotonic Dystrophy8.8%
176Polycystic Kidney Diseases8.8%
177Williams Syndrome8.8%
178Kallmann Syndrome8.4%
179Rubinstein-Taybi Syndrome8.4%
180Hypercholesterolemia8.2%
181Hyperlipoproteinemias8.2%
182Hypertriglyceridemia8.2%
183Tuberous Sclerosis8.2%
184Cutis Laxa8.1%
185Mitochondrial Myopathies8.1%
186Retinitis Pigmentosa8.1%
187Myelinolysis, Central Pontine8.1%
188Pigmentary retinopathy8.1%
189Porokeratosis8%
190Keratoderma, Palmoplantar8%
191Glycosuria7.9%
192Chronic granulomatous disease7.9%
193Reye Syndrome7.9%
194Hepatic Encephalopathy7.9%
195Welander Distal Myopathy7.9%
196Retinal Dysplasia7.8%
197Aniridia7.8%
198Epidermolysis Bullosa7.6%
199HIV Wasting Syndrome7.5%
200Acute Chest Syndrome7.5%
201Acidosis, Respiratory7.4%
202Adiposis Dolorosa7.4%
203Alkalosis, Respiratory7.4%
204Insulin Resistance7.4%
205Osteoporosis, Postmenopausal7.4%
206HIV-Associated Lipodystrophy Syndrome7.3%
207Renal Osteodystrophy7.3%
208Renal rickets7.3%
209Abdominal Cramps6.8%
210Abnormalities, Drug-Induced6.8%
211Amniotic Band Syndrome6.8%
212Asphyxia Neonatorum6.8%
213Child Nutrition Disorders6.8%
214Duane Retraction Syndrome6.8%
215Hypervitaminosis A6.8%
216Infant Nutrition Disorders6.8%
217Infant, Premature, Diseases6.8%
218Situs Inversus6.8%
219Malnutrition6.8%
220Infantile Colic6.8%
221Kernicterus6.7%
222Peutz-Jeghers Syndrome6.6%
223Wernicke Encephalopathy6.6%
224Myotonia Congenita6.6%
225Thrombasthenia6.6%
226Antithrombin III Deficiency6.6%
227Necrobiosis Lipoidica Diabeticorum6.6%
228Protein C Deficiency6.6%
229Afibrinogenemia6.6%
230Dystonia Musculorum Deformans6.6%
231Factor VII Deficiency6.6%
232Factor X Deficiency6.6%
233Factor XII Deficiency6.6%
234Hemophilia A6.6%
235Activated Protein C Resistance6.6%
236Factor II deficiency6.6%
237Factor VIII Deficiency6.6%
238Factor V deficiency6.6%
239Factor XI Deficiency6.6%
240Hypoprothrombinemias6.6%
241Lafora Disease6.5%
242Unverricht-Lundborg Syndrome6.5%
243Anemia, Diamond-Blackfan6.5%
244Polycystic Kidney, Autosomal Dominant6.5%
245Classical Lissencephalies and Subcortical Band Heterotopias6.3%
246Gestational Diabetes6.1%
247Latent Autoimmune Diabetes in Adults6.1%
248Diabetes Mellitus, Experimental6%
249Pseudoxanthoma Elasticum5.9%
250Nephrocalcinosis5.9%
251Tetany5.9%
252Meconium Aspiration Syndrome5.9%
253Multiple Endocrine Neoplasia5.9%
254Papillon-Lefevre Disease5.9%
255Hyperkeratosis, Epidermolytic5.9%
256Cerebral Amyloid Angiopathy5.8%
257Congenital Hypothyroidism5.7%
258Dermatitis, Atopic5.7%
259Xeroderma5.6%
260Mobius Syndrome5.6%
261Charcot-Marie-Tooth Disease5.6%
262Eye Abnormalities5.4%
263Cardiovascular Abnormalities5.4%
264Kearns-Sayre syndrome5.3%
265Skin Abnormalities5.2%
266Lymphatic Abnormalities5.2%
267Congenital Microtia5.2%
268Anemia, Neonatal5.1%
269Persistent Fetal Circulation Syndrome5.1%
270Congenital diaphragmatic hernia5%
271Umbilical hernia5%
272Behcet Syndrome5%
273Primary amyloidosis5%
274Basal Cell Nevus Syndrome4.8%
275Anencephaly4.6%
276Klinefelter Syndrome4.5%
277Deficiency Diseases4.4%
278Prune Belly Syndrome4.4%
279Starvation4.4%
280Twins, Conjoined4.4%
281Refeeding Syndrome4.4%
282Waardenburg Syndrome4.4%
283Huntington Disease4.4%
284Urogenital Abnormalities4.3%
285Amyotrophic Lateral Sclerosis4.3%
286Multiple Endocrine Neoplasia Type 14.2%
287Hydrops Fetalis4.2%
288Neonatal Abstinence Syndrome4.2%
289Fetal Growth Retardation4.1%
290Frontotemporal dementia4.1%
291Fetal Hypoxia4%
292Congenital nystagmus4%
293Fetal Alcohol Spectrum Disorders4%
294Toxoplasmosis, Congenital4%
295Syphilis, Congenital4%
296Nephroblastoma3.9%
297Maxillofacial Abnormalities3.9%
298Dural Arteriovenous Fistula3.9%
299Turner Syndrome3.9%
300Dextrocardia3.9%
301CREST Syndrome3.7%
302Adenomatous Polyposis Coli3.5%
303Anophthalmos3.4%
304Anus, Imperforate3.4%
305Hydranencephaly3.4%
306Microphthalmos3.4%
307Neural Tube Defects3.4%
308Paralysis, Obstetric3.4%
309Retinopathy of Prematurity3.4%
310Tethered Cord Syndrome3.4%
311Iniencephaly3.4%
312Craniorachischisis3.4%
313Limb Deformities, Congenital3.4%
314Exencephaly3.4%
315Septo-Optic Dysplasia3.4%
316Craniofacial Abnormalities3.4%
317Cortical Dysplasia3.4%
318Malformations of Cortical Development3.4%
319Anorectal Malformations3.4%
320Chorioamnionitis3.4%
321Bronchopulmonary Dysplasia3.3%
322Kwashiorkor3.3%
323Magnesium Deficiency3.3%
324Potassium Deficiency3.3%
325Protein Deficiency3.3%
326Avitaminosis3.3%
327Microcephaly3%
328Macrocephaly3%
329Scimitar Syndrome3%
330Abnormalities, Radiation-Induced2.9%
331Craniosynostosis2.8%
332Syndactyly2.8%
333Brachycephaly2.8%
334Blepharophimosis2.7%
335Laryngostenosis2.7%
336Mouth Abnormalities2.7%
337Respiratory Distress Syndrome, Newborn2.7%
338Ascorbic Acid Deficiency2.7%
339Vitamin A Deficiency2.7%
340Vitamin D Deficiency2.7%
341Vitamin E Deficiency2.7%
342Marasmus2.7%
343Esophageal Atresia2.7%
344Intestinal Atresia2.7%
345Horseshoe Kidney2.7%
346Pectus excavatum2.7%
347Porencephaly2.7%
348Klippel-Feil Syndrome2.7%
349Gastroschisis2.7%
350Synostosis2.7%
351Acrocephalosyndactylia2.7%
352Acrodermatitis2.7%
353Lymphangiectasis, Intestinal2.7%
354Gianotti-Crosti Syndrome2.7%
355Denys-Drash Syndrome2.6%
356Noonan Syndrome2.5%
357Amelia2.5%
358Arachnodactyly2.5%
359Ectopia Cordis2.5%
360Ectromelia2.5%
361Hemimelia2.5%
362Meningomyelocele2.5%
363Phocomelia2.5%
364Sirenomelia2.5%
365Spina Bifida2.5%
366Polydactyly2.5%
367Brachydactyly2.5%
368Plagiocephaly2.5%
369Lower Extremity Deformities, Congenital2.5%
370Upper Extremity Deformities, Congenital2.5%
371Single umbilical artery2.5%
372Ophthalmia Neonatorum2.5%
373Folic Acid Deficiency2.5%
374Pellagra2.5%
375Thiamine Deficiency2.5%
376Vitamin B 12 Deficiency2.5%
377Vitamin B 6 Deficiency2.5%
378Pyridoxine Deficiency2.5%
379Beriberi2.3%
380Poland Syndrome2.3%
381Cleft Palate2.3%
382Arthrogryposis2.3%
383Choanal Atresia2.3%
384Tracheobronchomegaly2.3%
385Laryngocele2.3%
386Jaw Abnormalities2.3%
387Choledochal Cyst2.3%
388Hermaphroditism2.3%
389Disorders of Sex Development2.3%
390Cryptorchidism2.2%
391Hypospadias2.2%
392Central Nervous System Cysts2.2%
393Dandy-Walker Syndrome2.2%
394Leukomalacia, Periventricular2.2%
395POEMS Syndrome2.2%
396Obesity2.2%
397Dermal Sinus2%
398Spina Bifida Cystica2%
399Spina Bifida Occulta2%
400Lissencephaly2%
401Polymicrogyria2%
402Pachygyria2%
403Schizencephaly2%
404Periventricular Nodular Heterotopia2%
405Aortic coarctation2%
406Cor Triatriatum2%
407Coronary Vessel Anomalies2%
408Dental Enamel Hypoplasia2%
409Patent ductus arteriosus2%
410Ebstein Anomaly2%
411Heart Septal Defects2%
412Hyaline Membrane Disease2%
413Hypodontia2%
414Macrostomia2%
415Meningocele2%
416Microstomia2%
417Tetralogy of Fallot2%
418Transposition of Great Vessels2%
419Hypoplastic Left Heart Syndrome2%
420May-Thurner Syndrome2%
421Encephalocele2%
422Craniofacial Dysostosis2%
423Wolff-Parkinson-White Syndrome2%
424Laryngomalacia2%
425Pectus carinatum1.9%
426Obesity, Abdominal1.9%
427Micrognathism1.9%
428Pierre Robin Syndrome1.9%
429Bladder Exstrophy1.9%
430Epispadias1.9%
431Multicystic Dysplastic Kidney1.9%
432Retrognathia1.7%
433Anemia, Pernicious1.7%
434Long QT Syndrome1.7%
435Platybasia1.7%
436Tricuspid Atresia1.7%
437Arrhythmogenic Right Ventricular Dysplasia1.7%
438Vitamin K Deficiency1.7%
439Gonadal Dysgenesis1.6%
440Bronchomalacia1.6%
441Adrenogenital Syndrome1.6%
442Tracheomalacia1.6%
443Ovotesticular Disorders of Sex Development1.6%
444Aortopulmonary Septal Defect1.6%
445Double Outlet Right Ventricle1.6%
446Endocardial Cushion Defects1.6%
447Myocardial bridging1.6%
448Aorticopulmonary Septal Defect1.6%
449Hyperandrogenism1.6%
450Pediatric Obesity1.6%
451Prognathism1.6%
452Scurvy1.5%
453Truncus Arteriosus, Persistent1.5%
454Goldenhar Syndrome1.5%
455Mandibulofacial Dysostosis1.4%
456Romano-Ward Syndrome1.4%
457Talipes1.2%
458Congenital clubfoot1.1%
459Vertical Talus1.1%
460Arteriovenous fistula1%
461Subacute Combined Degeneration1%
Powered by :

Page last updated at 2020-05-25 10:01:57 (Asia/Shanghai) | You are visitor No. 120234

Copyright © 2019-2020 Laboratory of Molecular Modeling and Design, Shanghai Key Laboratory of New Drug Design, School of Pharmacy, East China University of Science and Technology. All rights reserved.