MetaADEDB 2.0 @ LMMD
Hypophosphatasia
(UMLS:C0020630)
Definition:
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
UMLS ID:
C0020630
MeSH ID:
D007014
Classification 1:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.320.565.618.482
Classification 2:
Name:
Nutritional and Metabolic Diseases
MeSH Tree Number(s):
C18.452.648.618.482
Synonym(s)
1.
Hypophosphatasia
2.
Alkaline phosphatase deficiency
3.
Deficiency of alkaline phosphatase
4.
Hypophosphatasia, NOS
5.
hypophosphatasia
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1AlendronateFAERS: 5US FAERS
Similar ADE(s)
NameSemantic Similarity
1Pseudohypoparathyroidism36.4%
2Amino Acid Metabolism, Inborn Errors34.4%
3Carbohydrate Metabolism, Inborn Errors34.4%
4Progeria34.4%
5Lysosomal Storage Diseases34.4%
6Peroxisomal Disorders34.4%
7Hyperphosphaturia33.6%
8Familial Periodic Paralysis33%
9Menkes Kinky Hair Syndrome28.5%
10Brain Diseases, Metabolic, Inborn27.9%
11Smith-Lemli-Opitz Syndrome26.3%
12Hepatolenticular Degeneration25.9%
13Galactosemias24.9%
14Urea Cycle Disorders, Inborn24.9%
15Tyrosinemias24.9%
16Cytochrome-c Oxidase Deficiency24.6%
17Hypokalemic periodic paralysis24.2%
18Leigh Disease22.9%
19Alkaptonuria22.6%
20Glycogen Storage Disease22.6%
21Propionic acidemia22.6%
22Dihydropyrimidine Dehydrogenase Deficiency22.6%
23Cystinosis22.6%
24Hypolipoproteinemias21.9%
25Glycogen storage disease type II21.5%
26Hyperlipidemia, Familial Combined20.9%
27Hyperhomocysteinemia20.6%
28Hyperlipoproteinemia Type III20.4%
29Lactose Intolerance20%
30Werner Syndrome20%
31Homocystinuria19.8%
32Carbamoyl-Phosphate Synthase I Deficiency Disease19.7%
33Familial Hypophosphatemic Rickets19.3%
34Mucopolysaccharidosis III19.2%
35Hyperlipoproteinemia Type IV18.9%
36Hyperlipoproteinemia Type V18.9%
37Adrenoleukodystrophy17.8%
38Zellweger Syndrome17.7%
39Gaucher Disease17.5%
40Refsum Disease17.4%
41Mucopolysaccharidosis II17.3%
42Wasting Syndrome16.9%
43Albinism16.8%
44Glycogen Storage Disease Type I16.8%
45Glycogen Storage Disease Type V16.8%
46Acid-Base Imbalance16.7%
47Calcium Metabolism Disorders16.7%
48Iron Metabolism Disorders16.7%
49Neuronal Ceroid-Lipofuscinoses16.7%
50Phosphorus Metabolism Disorders16.7%
51Water-Electrolyte Imbalance16.7%
52Lipid Metabolism Disorders16.7%
53Mitochondrial Diseases16.7%
54Glucose Metabolism Disorders16.7%
55Amyloid Neuropathies, Familial16.5%
56Hypoalphalipoproteinemias16.3%
57Fabry Disease15.8%
58Renal tubular acidosis15.6%
59Ichthyosis, X-Linked15.1%
60Renal Aminoacidurias15%
61Fanconi Syndrome15%
62Pseudohypoaldosteronism15%
63Liddle Syndrome15%
64Hypercalcemia14.8%
65Hypocalcemia14.8%
66Milk-Alkali Syndrome14.8%
67Tay-Sachs Disease14.6%
68Niemann-Pick Disease, Type C14.3%
69Antley-Bixler Syndrome Phenotype13.9%
70Gout13.2%
71Neoplastic Syndromes, Hereditary13.2%
72Osteopenia12.7%
73Brain Diseases, Metabolic12.5%
74Multiple Epiphyseal Dysplasia12.5%
75Osteochondrodysplasias12.5%
76Pelger-Huet Anomaly12.5%
77Myasthenic Syndromes, Congenital12.5%
78Cockayne Syndrome12.3%
79Glycosuria, Renal12.1%
80Sjogren-Larsson Syndrome12.1%
81CHARGE Syndrome12%
82Lipodystrophy11.8%
83Cystic Fibrosis11.5%
84MELAS Syndrome11.2%
85Cystinuria11.2%
86Canavan Disease11.1%
87Alexander Disease11.1%
88Rickets10.5%
89Deformity10.5%
90Nutrition Disorders10.5%
91Aicardi's syndrome10.5%
92Dwarfism10.4%
93Nail-Patella Syndrome10.1%
94Porphyrias, Hepatic10%
95Muscular Dystrophy9.9%
96Osteogenesis Imperfecta9.9%
97Beckwith-Wiedemann Syndrome9.9%
98Wolf-Hirschhorn Syndrome9.9%
99Bloom Syndrome9.8%
100Anemia, Sickle Cell9.8%
101Thalassemia9.8%
102Acidosis9.8%
103Alkalosis9.8%
104Amyloidosis9.8%
105Calcinosis9.8%
106Hyperglycemia9.8%
107Hyperinsulinism9.8%
108Hyperkalemia9.8%
109Hypernatremia9.8%
110Hypoglycemia9.8%
111Hypokalemia9.8%
112Hyponatremia9.8%
113Familial Mediterranean Fever9.8%
114Xanthomatosis9.8%
115Hypophosphatemia9.8%
116Metabolic acidosis9.8%
117Dyslipidemias9.8%
118Iron Overload9.8%
119Xanthoma9.8%
120Muscular Dystrophy, Duchenne9.8%
121Fanconi Anemia9.7%
122Arthritis, Gouty9.7%
123Congenital Hyperinsulinism9.4%
124Fragile X Syndrome9.2%
125Ataxia Telangiectasia8.9%
126Autoimmune Lymphoproliferative Syndrome8.4%
127Smith-Magenis syndrome8.3%
128Cri-du-Chat Syndrome8.2%
129Down Syndrome8.2%
130Angioedemas, Hereditary8.2%
131Trisomy 218.2%
132Prader-Willi Syndrome7.9%
133Fetal Diseases7.9%
134Diabetes Mellitus7.8%
135Rett Syndrome7.7%
136Optic Atrophy, Hereditary, Leber7.6%
137Dehydration7.5%
138Lipomatosis7.5%
139Water Intoxication7.5%
140Marfan Syndrome7.4%
141Alstrom Syndrome7.4%
142Achlorhydria7.4%
143Osteoporosis7.4%
144Bone Demineralization, Pathologic7.4%
145Post-Traumatic Osteoporosis7.4%
146Wiskott-Aldrich Syndrome7.4%
147Celiac Disease7.3%
148Sprue, Tropical7.3%
149Steatorrhea7.3%
150Sprue7.3%
151Ectodermal Dysplasia7.1%
152Aplasia Cutis Congenita7.1%
153Osteomalacia7%
154Xeroderma Pigmentosum7%
155Mitochondrial Encephalomyopathies7%
156Holoprosencephaly6.9%
157Friedreich Ataxia6.9%
158Kartagener Syndrome6.9%
159Diabetic Ketoacidosis6.8%
160Kallmann Syndrome6.7%
161Myotonic Dystrophy6.5%
162Polycystic Kidney Diseases6.5%
163Williams Syndrome6.5%
164Nesidioblastosis6.5%
165Variegate Porphyria6.5%
166Acute intermittent porphyria6.5%
167Porphyria Cutanea Tarda6.5%
168Acidosis, Lactic6.5%
169Calciphylaxis6.5%
170Hemosiderosis6.5%
171Ketosis6.5%
172Ketonuria6.5%
173Ketoacidosis6.5%
174Ketonemia6.5%
175Vascular calcification6.5%
176Primary Ciliary Dyskinesia6.4%
177Sickle Cell Trait6.4%
178Rubinstein-Taybi Syndrome6.2%
179Cutis Laxa6%
180Mitochondrial Myopathies6%
181Tuberous Sclerosis6%
182Retinitis Pigmentosa6%
183Myelinolysis, Central Pontine6%
184Pigmentary retinopathy6%
185Porokeratosis5.9%
186Keratoderma, Palmoplantar5.9%
187Glycosuria5.9%
188Chronic granulomatous disease5.9%
189Reye Syndrome5.9%
190Hepatic Encephalopathy5.8%
191Retinal Dysplasia5.8%
192Welander Distal Myopathy5.8%
193Aniridia5.8%
194Epidermolysis Bullosa5.7%
195HIV Wasting Syndrome5.6%
196Abdominal Cramps5.6%
197Abnormalities, Drug-Induced5.6%
198Amniotic Band Syndrome5.6%
199Asphyxia Neonatorum5.6%
200Child Nutrition Disorders5.6%
201Hypervitaminosis A5.6%
202Infant Nutrition Disorders5.6%
203Infant, Premature, Diseases5.6%
204Situs Inversus5.6%
205Malnutrition5.6%
206Infantile Colic5.6%
207Duane Retraction Syndrome5.1%
208Kernicterus5%
209Acute Chest Syndrome4.9%
210Peutz-Jeghers Syndrome4.9%
211Myotonia Congenita4.9%
212Thrombasthenia4.9%
213Antithrombin III Deficiency4.9%
214Necrobiosis Lipoidica Diabeticorum4.9%
215Protein C Deficiency4.9%
216Afibrinogenemia4.9%
217Dystonia Musculorum Deformans4.9%
218Factor VII Deficiency4.9%
219Factor X Deficiency4.9%
220Factor XII Deficiency4.9%
221Hemophilia A4.9%
222Activated Protein C Resistance4.9%
223Factor II deficiency4.9%
224Factor VIII Deficiency4.9%
225Factor V deficiency4.9%
226Factor XI Deficiency4.9%
227Hypoprothrombinemias4.9%
228Acidosis, Respiratory4.9%
229Adiposis Dolorosa4.9%
230Alkalosis, Respiratory4.9%
231Meconium Aspiration Syndrome4.9%
232HIV-Associated Lipodystrophy Syndrome4.8%
233Lafora Disease4.8%
234Unverricht-Lundborg Syndrome4.8%
235Insulin Resistance4.8%
236Osteoporosis, Postmenopausal4.8%
237Anemia, Diamond-Blackfan4.8%
238Hypercholesterolemia4.8%
239Hyperlipoproteinemias4.8%
240Hypertriglyceridemia4.8%
241Wernicke Encephalopathy4.7%
242Renal Osteodystrophy4.7%
243Renal rickets4.7%
244Xeroderma4.4%
245Mobius Syndrome4.4%
246Pseudoxanthoma Elasticum4.4%
247Eye Abnormalities4.4%
248Cardiovascular Abnormalities4.4%
249Multiple Endocrine Neoplasia4.4%
250Polycystic Kidney, Autosomal Dominant4.3%
251Congenital Hypothyroidism4.3%
252Dermatitis, Atopic4.2%
253Skin Abnormalities4.2%
254Lymphatic Abnormalities4.2%
255Congenital Microtia4.2%
256Anemia, Neonatal4.2%
257Persistent Fetal Circulation Syndrome4.2%
258Congenital diaphragmatic hernia4.1%
259Umbilical hernia4.1%
260Gestational Diabetes4%
261Latent Autoimmune Diabetes in Adults4%
262Classical Lissencephalies and Subcortical Band Heterotopias4%
263Diabetes Mellitus, Experimental4%
264Nephrocalcinosis3.9%
265Tetany3.9%
266Papillon-Lefevre Disease3.9%
267Cerebral Amyloid Angiopathy3.8%
268Hyperkeratosis, Epidermolytic3.8%
269Behcet Syndrome3.7%
270Charcot-Marie-Tooth Disease3.7%
271Kearns-Sayre syndrome3.6%
272Basal Cell Nevus Syndrome3.6%
273Urogenital Abnormalities3.5%
274Neonatal Abstinence Syndrome3.4%
275Fetal Growth Retardation3.3%
276Fetal Hypoxia3.3%
277Congenital nystagmus3.3%
278Fetal Alcohol Spectrum Disorders3.3%
279Toxoplasmosis, Congenital3.3%
280Primary amyloidosis3.3%
281Anencephaly3.3%
282Syphilis, Congenital3.3%
283Huntington Disease3.3%
284Deficiency Diseases3.3%
285Prune Belly Syndrome3.3%
286Starvation3.3%
287Twins, Conjoined3.3%
288Refeeding Syndrome3.3%
289Waardenburg Syndrome3.3%
290Nephroblastoma2.9%
291Amyotrophic Lateral Sclerosis2.8%
292Multiple Endocrine Neoplasia Type 12.8%
293Chorioamnionitis2.8%
294Maxillofacial Abnormalities2.8%
295Dural Arteriovenous Fistula2.8%
296Hydrops Fetalis2.7%
297Dextrocardia2.7%
298Klinefelter Syndrome2.7%
299Adenomatous Polyposis Coli2.6%
300Anophthalmos2.5%
301Anus, Imperforate2.5%
302Hydranencephaly2.5%
303Microphthalmos2.5%
304Neural Tube Defects2.5%
305Paralysis, Obstetric2.5%
306Retinopathy of Prematurity2.5%
307Tethered Cord Syndrome2.5%
308Iniencephaly2.5%
309Craniorachischisis2.5%
310Limb Deformities, Congenital2.5%
311Exencephaly2.5%
312Septo-Optic Dysplasia2.5%
313Craniofacial Abnormalities2.5%
314Cortical Dysplasia2.5%
315Malformations of Cortical Development2.5%
316Anorectal Malformations2.5%
317Bronchopulmonary Dysplasia2.4%
318CREST Syndrome2.4%
319Frontotemporal dementia2.4%
320Turner Syndrome2.4%
321Abnormalities, Radiation-Induced2.4%
322Kwashiorkor2.2%
323Magnesium Deficiency2.2%
324Potassium Deficiency2.2%
325Protein Deficiency2.2%
326Avitaminosis2.2%
327Scimitar Syndrome2.1%
328Ophthalmia Neonatorum2%
329Blepharophimosis2%
330Laryngostenosis2%
331Mouth Abnormalities2%
332Respiratory Distress Syndrome, Newborn2%
333Esophageal Atresia2%
334Intestinal Atresia2%
335Horseshoe Kidney2%
336Pectus excavatum2%
337Klippel-Feil Syndrome2%
338Gastroschisis2%
339Synostosis2%
340Acrodermatitis2%
341Lymphangiectasis, Intestinal2%
342Gianotti-Crosti Syndrome2%
343Microcephaly1.9%
344Macrocephaly1.9%
345Craniosynostosis1.9%
346Syndactyly1.9%
347Brachycephaly1.9%
348Denys-Drash Syndrome1.7%
349Arthrogryposis1.7%
350Choanal Atresia1.7%
351Tracheobronchomegaly1.7%
352Laryngocele1.7%
353Choledochal Cyst1.7%
354Hermaphroditism1.7%
355Disorders of Sex Development1.7%
356Cryptorchidism1.7%
357Hypospadias1.7%
358Central Nervous System Cysts1.7%
359Noonan Syndrome1.7%
360Dandy-Walker Syndrome1.6%
361Leukomalacia, Periventricular1.6%
362POEMS Syndrome1.6%
363Amelia1.6%
364Arachnodactyly1.6%
365Ectopia Cordis1.6%
366Ectromelia1.6%
367Hemimelia1.6%
368Meningomyelocele1.6%
369Phocomelia1.6%
370Sirenomelia1.6%
371Spina Bifida1.6%
372Polydactyly1.6%
373Brachydactyly1.6%
374Plagiocephaly1.6%
375Lower Extremity Deformities, Congenital1.6%
376Upper Extremity Deformities, Congenital1.6%
377Single umbilical artery1.6%
378Obesity1.6%
379Ascorbic Acid Deficiency1.6%
380Vitamin A Deficiency1.6%
381Vitamin D Deficiency1.6%
382Vitamin E Deficiency1.6%
383Marasmus1.6%
384Porencephaly1.6%
385Acrocephalosyndactylia1.6%
386Laryngomalacia1.5%
387Jaw Abnormalities1.4%
388Pectus carinatum1.4%
389Bladder Exstrophy1.4%
390Epispadias1.4%
391Multicystic Dysplastic Kidney1.4%
392Cleft Palate1.4%
393Poland Syndrome1.4%
394Folic Acid Deficiency1.3%
395Pellagra1.3%
396Thiamine Deficiency1.3%
397Vitamin B 12 Deficiency1.3%
398Vitamin B 6 Deficiency1.3%
399Pyridoxine Deficiency1.3%
400Aortic coarctation1.3%
401Cor Triatriatum1.3%
402Coronary Vessel Anomalies1.3%
403Dental Enamel Hypoplasia1.3%
404Patent ductus arteriosus1.3%
405Ebstein Anomaly1.3%
406Heart Septal Defects1.3%
407Hyaline Membrane Disease1.3%
408Hypodontia1.3%
409Macrostomia1.3%
410Meningocele1.3%
411Microstomia1.3%
412Tetralogy of Fallot1.3%
413Transposition of Great Vessels1.3%
414Hypoplastic Left Heart Syndrome1.3%
415May-Thurner Syndrome1.3%
416Encephalocele1.3%
417Craniofacial Dysostosis1.3%
418Wolff-Parkinson-White Syndrome1.3%
419Obesity, Abdominal1.3%
420Dermal Sinus1.2%
421Spina Bifida Cystica1.2%
422Spina Bifida Occulta1.2%
423Lissencephaly1.2%
424Polymicrogyria1.2%
425Pachygyria1.2%
426Schizencephaly1.2%
427Periventricular Nodular Heterotopia1.2%
428Beriberi1.2%
429Micrognathism1.1%
430Pierre Robin Syndrome1.1%
431Long QT Syndrome1.1%
432Platybasia1.1%
433Tricuspid Atresia1.1%
434Arrhythmogenic Right Ventricular Dysplasia1.1%
435Gonadal Dysgenesis1.1%
436Bronchomalacia1.1%
437Adrenogenital Syndrome1.1%
438Tracheomalacia1.1%
439Ovotesticular Disorders of Sex Development1.1%
440Pediatric Obesity1.1%
441Retrognathia1%
442Vitamin K Deficiency1%
443Aortopulmonary Septal Defect1%
444Double Outlet Right Ventricle1%
445Endocardial Cushion Defects1%
446Myocardial bridging1%
447Aorticopulmonary Septal Defect1%
448Hyperandrogenism1%
449Anemia, Pernicious0.9%
450Prognathism0.9%
451Scurvy0.8%
452Mandibulofacial Dysostosis0.8%
453Romano-Ward Syndrome0.8%
454Truncus Arteriosus, Persistent0.8%
455Goldenhar Syndrome0.8%
456Talipes0.7%
457Arteriovenous fistula0.6%
458Congenital clubfoot0.6%
459Vertical Talus0.6%
460Subacute Combined Degeneration0.5%
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