MetaADEDB 2.0 @ LMMD
Lysosomal Storage Diseases
(UMLS:C0085078)
Definition:
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
UMLS ID:
C0085078
MeSH ID:
D016464
Classification 1:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.320.565.595
Classification 2:
Name:
Nutritional and Metabolic Diseases
MeSH Tree Number(s):
C18.452.648.595
Synonym(s)
1.
Lysosomal Storage Diseases
2.
Disorder of Lysosomal Enzymes
3.
Disorder of lysosomal enzyme
4.
Disorder of lysosomal enzyme, NOS
5.
Lysosomal Storage Disease
6.
Lysosomal Storage Disorder
7.
Lysosomal enzyme defect
8.
Lysosomal enzyme disorder
9.
Lysosomal storage disease
10.
Lysosomal storage diseases
11.
PHOSPHOLIPIDOSIS
12.
defect; lysosomal enzyme
13.
inborn lysosomal enzyme disorder
14.
lysosomal enzyme; defect
15.
lysosomal storage disease
16.
lysosomal storage diseases
17.
lysosomal storage disorder
18.
lysosomal storage disorders
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
13,3'-diethylthiacarbocyanine iodide28551711CTD
2Amlodipine28551711CTD
3Aprindine28551711CTD
4Azithromycin28551711CTD
5Benztropine28551711CTD
6Butaclamol28551711CTD
7Cabergoline28551711CTD
8Chlorprothixene28551711CTD
9Clemastine28551711CTD
10Clopenthixol28551711CTD
11Clotrimazole28551711CTD
12Colchicine28551711CTD
13Dibucaine28551711CTD
14Domperidone28551711CTD
15Doxorubicin28551711CTD
16Duloxetine Hydrochloride28551711CTD
17Dutasteride28551711CTD
18Erlotinib Hydrochloride28551711CTD
19Fendiline28551711CTD
20Flupenthixol28551711CTD
21Flurazepam28551711CTD
22GR 10369128551711CTD
23Hymecromone24295952CTD
24Imatinib Mesylate28551711CTD
25Lidoflazine28551711CTD
26Lofepramine28551711CTD
27Mebendazole28551711CTD
28Mercaptopurine28551711CTD
29Methiothepin28551711CTD
30Mibefradil28551711CTD
31Nonachlazine28551711CTD
32Orlistat28551711CTD
33Perphenazine28551711CTD
34Pizotyline28551711CTD
35Proadifen28551711CTD
36Probucol28551711CTD
37Promazine28551711CTD
38Quinacrine28551711CTD
39Reserpine28551711CTD
40Salmeterol Xinafoate28551711CTD
41Sertraline28551711CTD
42Tamoxifen28551711CTD
43Thioguanine28551711CTD
44Tilorone28551711CTD
45Toremifene28551711CTD
46Triflupromazine28551711CTD
47Vincristine28551711CTD
48aprofen28551711CTD
49azelastine28551711CTD
50bifemelane28551711CTD
51bromperidol28551711CTD
52bucindolol28551711CTD
53cepharanthine28551711CTD
54clothiapine28551711CTD
55darifenacin28551711CTD
56decominol28551711CTD
57desloratadine28551711CTD
58dibenzheptropine28551711CTD
59dimethisoquin28551711CTD
60ebastine28551711CTD
61eletriptan28551711CTD
62fenoverine28551711CTD
63halofantrine28551711CTD
64ifenprodil28551711CTD
65lenperone28551711CTD
66levomepromazine maleate28551711CTD
67lomerizine28551711CTD
68mepazine28551711CTD
69methdilazine28551711CTD
70methixene28551711CTD
71nefazodone28551711CTD
72niguldipine28551711CTD
73octoclothepine28551711CTD
74oxeladin28551711CTD
75oxyphencyclimine28551711CTD
76perhexiline maleate28551711CTD
77periciazine28551711CTD
78perospirone28551711CTD
79pyrathiazine28551711CTD
80pyrvinium28551711CTD
81rescinnamine28551711CTD
82rimcazole28551711CTD
83terconazole28551711CTD
84tiamulin28551711CTD
85triciribine28551711CTD
86trimeprazine tartrate28551711CTD
87valnemulin28551711CTD
Similar ADE(s)
NameSemantic Similarity
1Amino Acid Metabolism, Inborn Errors46.7%
2Carbohydrate Metabolism, Inborn Errors46.7%
3Metal Metabolism, Inborn Errors46.7%
4Progeria46.7%
5Peroxisomal Disorders46.7%
6Smith-Lemli-Opitz Syndrome39.6%
7Galactosemias37.7%
8Urea Cycle Disorders, Inborn37.7%
9Tyrosinemias37.7%
10Brain Diseases, Metabolic, Inborn37.6%
11Leigh Disease35.3%
12Alkaptonuria34.4%
13Glycogen Storage Disease34.4%
14Hypophosphatasia34.4%
15Propionic acidemia34.4%
16Dihydropyrimidine Dehydrogenase Deficiency34.4%
17Hyperphosphaturia33.5%
18Hypolipoproteinemias33.3%
19Cytochrome-c Oxidase Deficiency33.3%
20Hyperlipidemia, Familial Combined32.2%
21Carbamoyl-Phosphate Synthase I Deficiency Disease32.1%
22Hyperlipoproteinemia Type III31.7%
23Homocystinuria31.2%
24Pseudohypoparathyroidism31.1%
25Hyperhomocysteinemia30.6%
26Menkes Kinky Hair Syndrome30%
27Hyperlipoproteinemia Type IV29.9%
28Hyperlipoproteinemia Type V29.9%
29Lactose Intolerance29.5%
30Glycogen Storage Disease Type I28.5%
31Glycogen Storage Disease Type V28.5%
32Adrenoleukodystrophy27.5%
33Hypoalphalipoproteinemias27.5%
34Hepatolenticular Degeneration26.5%
35Zellweger Syndrome26.5%
36Refsum Disease26.2%
37Neuronal Ceroid-Lipofuscinoses26.2%
38Werner Syndrome25.4%
39Amyloid Neuropathies, Familial25%
40Glycogen storage disease type II24.8%
41Albinism24.4%
42Renal tubular acidosis23.7%
43Familial Periodic Paralysis23.3%
44Familial Hypophosphatemic Rickets23.3%
45Renal Aminoacidurias22.8%
46Fanconi Syndrome22.8%
47Pseudohypoaldosteronism22.8%
48Liddle Syndrome22.8%
49Gaucher Disease22.4%
50Ichthyosis, X-Linked21.8%
51Antley-Bixler Syndrome Phenotype21%
52Wasting Syndrome20.7%
53Acid-Base Imbalance20.5%
54Calcium Metabolism Disorders20.5%
55Iron Metabolism Disorders20.5%
56Phosphorus Metabolism Disorders20.5%
57Water-Electrolyte Imbalance20.5%
58Lipid Metabolism Disorders20.5%
59Mitochondrial Diseases20.5%
60Glucose Metabolism Disorders20.5%
61Fabry Disease20.4%
62Tay-Sachs Disease20.2%
63Gout20%
64Hypercalcemia20%
65Hypocalcemia20%
66Milk-Alkali Syndrome20%
67Niemann-Pick Disease, Type C19.2%
68Hypokalemic periodic paralysis19%
69Cystinuria18.8%
70Sjogren-Larsson Syndrome18.7%
71Glycosuria, Renal18.3%
72Canavan Disease17.7%
73Alexander Disease17.7%
74MELAS Syndrome17.2%
75Mucopolysaccharidosis II17.1%
76Cockayne Syndrome16.6%
77Arthritis, Gouty16.3%
78Mucopolysaccharidosis III16.1%
79Neoplastic Syndromes, Hereditary16.1%
80Lipodystrophy16%
81Osteopenia15.5%
82Brain Diseases, Metabolic15.3%
83Multiple Epiphyseal Dysplasia15.3%
84Osteochondrodysplasias15.3%
85Pelger-Huet Anomaly15.3%
86Myasthenic Syndromes, Congenital15.3%
87CHARGE Syndrome14.9%
88Rickets14.4%
89Cystic Fibrosis14%
90Aicardi's syndrome13.9%
91Fragile X Syndrome13.9%
92Porphyrias, Hepatic13.5%
93Congenital Hyperinsulinism13.5%
94Acidosis13.3%
95Alkalosis13.3%
96Amyloidosis13.3%
97Beckwith-Wiedemann Syndrome13.3%
98Bloom Syndrome13.3%
99Calcinosis13.3%
100Hyperglycemia13.3%
101Hyperinsulinism13.3%
102Hyperkalemia13.3%
103Hypernatremia13.3%
104Hypoglycemia13.3%
105Hypokalemia13.3%
106Hyponatremia13.3%
107Familial Mediterranean Fever13.3%
108Xanthomatosis13.3%
109Hypophosphatemia13.3%
110Metabolic acidosis13.3%
111Dyslipidemias13.3%
112Iron Overload13.3%
113Xanthoma13.3%
114Wolf-Hirschhorn Syndrome13.3%
115Anemia, Sickle Cell13.2%
116Thalassemia13.2%
117Muscular Dystrophy, Duchenne13.2%
118Fanconi Anemia13.1%
119Dwarfism12.7%
120Nail-Patella Syndrome12.5%
121Muscular Dystrophy12.1%
122Osteogenesis Imperfecta12.1%
123Deformity11.9%
124Nutrition Disorders11.9%
125Rett Syndrome11.7%
126Smith-Magenis syndrome11.2%
127Ataxia Telangiectasia11.2%
128Cri-du-Chat Syndrome11%
129Down Syndrome11%
130Trisomy 2111%
131Optic Atrophy, Hereditary, Leber10.9%
132Osteomalacia10.9%
133Prader-Willi Syndrome10.8%
134Diabetic Ketoacidosis10.8%
135Alstrom Syndrome10.7%
136Diabetes Mellitus10.5%
137Nesidioblastosis10.4%
138Autoimmune Lymphoproliferative Syndrome10.2%
139Dehydration10.2%
140Lipomatosis10.2%
141Water Intoxication10.2%
142Achlorhydria10%
143Osteoporosis10%
144Bone Demineralization, Pathologic10%
145Post-Traumatic Osteoporosis10%
146Angioedemas, Hereditary9.9%
147Celiac Disease9.9%
148Sprue, Tropical9.9%
149Steatorrhea9.9%
150Sprue9.9%
151Wiskott-Aldrich Syndrome9.9%
152Acidosis, Lactic9.9%
153Calciphylaxis9.9%
154Hemosiderosis9.9%
155Ketosis9.9%
156Ketonuria9.9%
157Ketoacidosis9.9%
158Ketonemia9.9%
159Vascular calcification9.9%
160Mitochondrial Encephalomyopathies9.9%
161Variegate Porphyria9.8%
162Acute intermittent porphyria9.8%
163Porphyria Cutanea Tarda9.8%
164Friedreich Ataxia9.8%
165Sickle Cell Trait9.7%
166Holoprosencephaly9.6%
167Ectodermal Dysplasia9.5%
168Aplasia Cutis Congenita9.5%
169Xeroderma Pigmentosum9.4%
170Marfan Syndrome9.4%
171Kartagener Syndrome9.3%
172Fetal Diseases8.9%
173Primary Ciliary Dyskinesia8.9%
174Myotonic Dystrophy8.8%
175Polycystic Kidney Diseases8.8%
176Williams Syndrome8.8%
177Kallmann Syndrome8.4%
178Rubinstein-Taybi Syndrome8.4%
179Hypercholesterolemia8.2%
180Hyperlipoproteinemias8.2%
181Hypertriglyceridemia8.2%
182Tuberous Sclerosis8.2%
183Cutis Laxa8.1%
184Mitochondrial Myopathies8.1%
185Retinitis Pigmentosa8.1%
186Myelinolysis, Central Pontine8.1%
187Pigmentary retinopathy8.1%
188Porokeratosis8%
189Keratoderma, Palmoplantar8%
190Glycosuria7.9%
191Chronic granulomatous disease7.9%
192Reye Syndrome7.9%
193Hepatic Encephalopathy7.9%
194Welander Distal Myopathy7.9%
195Retinal Dysplasia7.8%
196Aniridia7.8%
197Epidermolysis Bullosa7.6%
198HIV Wasting Syndrome7.5%
199Acute Chest Syndrome7.5%
200Acidosis, Respiratory7.4%
201Adiposis Dolorosa7.4%
202Alkalosis, Respiratory7.4%
203Insulin Resistance7.4%
204Osteoporosis, Postmenopausal7.4%
205HIV-Associated Lipodystrophy Syndrome7.3%
206Renal Osteodystrophy7.3%
207Renal rickets7.3%
208Abdominal Cramps6.8%
209Abnormalities, Drug-Induced6.8%
210Amniotic Band Syndrome6.8%
211Asphyxia Neonatorum6.8%
212Child Nutrition Disorders6.8%
213Duane Retraction Syndrome6.8%
214Hypervitaminosis A6.8%
215Infant Nutrition Disorders6.8%
216Infant, Premature, Diseases6.8%
217Situs Inversus6.8%
218Malnutrition6.8%
219Infantile Colic6.8%
220Kernicterus6.7%
221Peutz-Jeghers Syndrome6.6%
222Wernicke Encephalopathy6.6%
223Myotonia Congenita6.6%
224Thrombasthenia6.6%
225Antithrombin III Deficiency6.6%
226Necrobiosis Lipoidica Diabeticorum6.6%
227Protein C Deficiency6.6%
228Afibrinogenemia6.6%
229Dystonia Musculorum Deformans6.6%
230Factor VII Deficiency6.6%
231Factor X Deficiency6.6%
232Factor XII Deficiency6.6%
233Hemophilia A6.6%
234Activated Protein C Resistance6.6%
235Factor II deficiency6.6%
236Factor VIII Deficiency6.6%
237Factor V deficiency6.6%
238Factor XI Deficiency6.6%
239Hypoprothrombinemias6.6%
240Lafora Disease6.5%
241Unverricht-Lundborg Syndrome6.5%
242Anemia, Diamond-Blackfan6.5%
243Polycystic Kidney, Autosomal Dominant6.5%
244Classical Lissencephalies and Subcortical Band Heterotopias6.3%
245Gestational Diabetes6.1%
246Latent Autoimmune Diabetes in Adults6.1%
247Diabetes Mellitus, Experimental6%
248Pseudoxanthoma Elasticum5.9%
249Nephrocalcinosis5.9%
250Tetany5.9%
251Meconium Aspiration Syndrome5.9%
252Multiple Endocrine Neoplasia5.9%
253Papillon-Lefevre Disease5.9%
254Hyperkeratosis, Epidermolytic5.9%
255Cerebral Amyloid Angiopathy5.8%
256Congenital Hypothyroidism5.7%
257Dermatitis, Atopic5.7%
258Xeroderma5.6%
259Mobius Syndrome5.6%
260Charcot-Marie-Tooth Disease5.6%
261Eye Abnormalities5.4%
262Cardiovascular Abnormalities5.4%
263Kearns-Sayre syndrome5.3%
264Skin Abnormalities5.2%
265Lymphatic Abnormalities5.2%
266Congenital Microtia5.2%
267Anemia, Neonatal5.1%
268Persistent Fetal Circulation Syndrome5.1%
269Congenital diaphragmatic hernia5%
270Umbilical hernia5%
271Behcet Syndrome5%
272Primary amyloidosis5%
273Basal Cell Nevus Syndrome4.8%
274Anencephaly4.6%
275Klinefelter Syndrome4.5%
276Deficiency Diseases4.4%
277Prune Belly Syndrome4.4%
278Starvation4.4%
279Twins, Conjoined4.4%
280Refeeding Syndrome4.4%
281Waardenburg Syndrome4.4%
282Huntington Disease4.4%
283Urogenital Abnormalities4.3%
284Amyotrophic Lateral Sclerosis4.3%
285Multiple Endocrine Neoplasia Type 14.2%
286Hydrops Fetalis4.2%
287Neonatal Abstinence Syndrome4.2%
288Fetal Growth Retardation4.1%
289Frontotemporal dementia4.1%
290Fetal Hypoxia4%
291Congenital nystagmus4%
292Fetal Alcohol Spectrum Disorders4%
293Toxoplasmosis, Congenital4%
294Syphilis, Congenital4%
295Nephroblastoma3.9%
296Maxillofacial Abnormalities3.9%
297Dural Arteriovenous Fistula3.9%
298Turner Syndrome3.9%
299Dextrocardia3.9%
300CREST Syndrome3.7%
301Adenomatous Polyposis Coli3.5%
302Anophthalmos3.4%
303Anus, Imperforate3.4%
304Hydranencephaly3.4%
305Microphthalmos3.4%
306Neural Tube Defects3.4%
307Paralysis, Obstetric3.4%
308Retinopathy of Prematurity3.4%
309Tethered Cord Syndrome3.4%
310Iniencephaly3.4%
311Craniorachischisis3.4%
312Limb Deformities, Congenital3.4%
313Exencephaly3.4%
314Septo-Optic Dysplasia3.4%
315Craniofacial Abnormalities3.4%
316Cortical Dysplasia3.4%
317Malformations of Cortical Development3.4%
318Anorectal Malformations3.4%
319Chorioamnionitis3.4%
320Bronchopulmonary Dysplasia3.3%
321Kwashiorkor3.3%
322Magnesium Deficiency3.3%
323Potassium Deficiency3.3%
324Protein Deficiency3.3%
325Avitaminosis3.3%
326Microcephaly3%
327Macrocephaly3%
328Scimitar Syndrome3%
329Abnormalities, Radiation-Induced2.9%
330Craniosynostosis2.8%
331Syndactyly2.8%
332Brachycephaly2.8%
333Blepharophimosis2.7%
334Laryngostenosis2.7%
335Mouth Abnormalities2.7%
336Respiratory Distress Syndrome, Newborn2.7%
337Ascorbic Acid Deficiency2.7%
338Vitamin A Deficiency2.7%
339Vitamin D Deficiency2.7%
340Vitamin E Deficiency2.7%
341Marasmus2.7%
342Esophageal Atresia2.7%
343Intestinal Atresia2.7%
344Horseshoe Kidney2.7%
345Pectus excavatum2.7%
346Porencephaly2.7%
347Klippel-Feil Syndrome2.7%
348Gastroschisis2.7%
349Synostosis2.7%
350Acrocephalosyndactylia2.7%
351Acrodermatitis2.7%
352Lymphangiectasis, Intestinal2.7%
353Gianotti-Crosti Syndrome2.7%
354Denys-Drash Syndrome2.6%
355Noonan Syndrome2.5%
356Amelia2.5%
357Arachnodactyly2.5%
358Ectopia Cordis2.5%
359Ectromelia2.5%
360Hemimelia2.5%
361Meningomyelocele2.5%
362Phocomelia2.5%
363Sirenomelia2.5%
364Spina Bifida2.5%
365Polydactyly2.5%
366Brachydactyly2.5%
367Plagiocephaly2.5%
368Lower Extremity Deformities, Congenital2.5%
369Upper Extremity Deformities, Congenital2.5%
370Single umbilical artery2.5%
371Ophthalmia Neonatorum2.5%
372Folic Acid Deficiency2.5%
373Pellagra2.5%
374Thiamine Deficiency2.5%
375Vitamin B 12 Deficiency2.5%
376Vitamin B 6 Deficiency2.5%
377Pyridoxine Deficiency2.5%
378Beriberi2.3%
379Poland Syndrome2.3%
380Cleft Palate2.3%
381Arthrogryposis2.3%
382Choanal Atresia2.3%
383Tracheobronchomegaly2.3%
384Laryngocele2.3%
385Jaw Abnormalities2.3%
386Choledochal Cyst2.3%
387Hermaphroditism2.3%
388Disorders of Sex Development2.3%
389Cryptorchidism2.2%
390Hypospadias2.2%
391Central Nervous System Cysts2.2%
392Dandy-Walker Syndrome2.2%
393Leukomalacia, Periventricular2.2%
394POEMS Syndrome2.2%
395Obesity2.2%
396Dermal Sinus2%
397Spina Bifida Cystica2%
398Spina Bifida Occulta2%
399Lissencephaly2%
400Polymicrogyria2%
401Pachygyria2%
402Schizencephaly2%
403Periventricular Nodular Heterotopia2%
404Aortic coarctation2%
405Cor Triatriatum2%
406Coronary Vessel Anomalies2%
407Dental Enamel Hypoplasia2%
408Patent ductus arteriosus2%
409Ebstein Anomaly2%
410Heart Septal Defects2%
411Hyaline Membrane Disease2%
412Hypodontia2%
413Macrostomia2%
414Meningocele2%
415Microstomia2%
416Tetralogy of Fallot2%
417Transposition of Great Vessels2%
418Hypoplastic Left Heart Syndrome2%
419May-Thurner Syndrome2%
420Encephalocele2%
421Craniofacial Dysostosis2%
422Wolff-Parkinson-White Syndrome2%
423Laryngomalacia2%
424Pectus carinatum1.9%
425Obesity, Abdominal1.9%
426Micrognathism1.9%
427Pierre Robin Syndrome1.9%
428Bladder Exstrophy1.9%
429Epispadias1.9%
430Multicystic Dysplastic Kidney1.9%
431Retrognathia1.7%
432Anemia, Pernicious1.7%
433Long QT Syndrome1.7%
434Platybasia1.7%
435Tricuspid Atresia1.7%
436Arrhythmogenic Right Ventricular Dysplasia1.7%
437Vitamin K Deficiency1.7%
438Gonadal Dysgenesis1.6%
439Bronchomalacia1.6%
440Adrenogenital Syndrome1.6%
441Tracheomalacia1.6%
442Ovotesticular Disorders of Sex Development1.6%
443Aortopulmonary Septal Defect1.6%
444Double Outlet Right Ventricle1.6%
445Endocardial Cushion Defects1.6%
446Myocardial bridging1.6%
447Aorticopulmonary Septal Defect1.6%
448Hyperandrogenism1.6%
449Pediatric Obesity1.6%
450Prognathism1.6%
451Scurvy1.5%
452Truncus Arteriosus, Persistent1.5%
453Goldenhar Syndrome1.5%
454Mandibulofacial Dysostosis1.4%
455Romano-Ward Syndrome1.4%
456Talipes1.2%
457Congenital clubfoot1.1%
458Vertical Talus1.1%
459Arteriovenous fistula1%
460Subacute Combined Degeneration1%
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