MetaADEDB 2.0 @ LMMD
Antley-Bixler Syndrome Phenotype
(UMLS:C2350233)
Definition:
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
UMLS ID:
C2350233
MeSH ID:
D054882
Classification 1:
Name:
Musculoskeletal Diseases
MeSH Tree Number(s):
C05.116.099.370.894.115|C05.660.906.181
Classification 2:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.131.621.906.181|C16.320.565.925.324
Classification 3:
Name:
Nutritional and Metabolic Diseases
MeSH Tree Number(s):
C18.452.648.925.324
Synonym(s)
1.
Antley-Bixler Syndrome Phenotype
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1Fluconazole14758361CTD
Similar ADE(s)
NameSemantic Similarity
1Craniosynostosis41.1%
2Syndactyly41.1%
3Brachycephaly41.1%
4Acrocephalosyndactylia40.4%
5Smith-Lemli-Opitz Syndrome32.4%
6Poland Syndrome30.4%
7Klippel-Feil Syndrome29.6%
8Pectus excavatum28%
9Pectus carinatum26.1%
10Arthrogryposis25.1%
11Rubinstein-Taybi Syndrome25%
12Ichthyosis, X-Linked23.3%
13Platybasia23%
14Craniofacial Dysostosis22.7%
15Limb Deformities, Congenital21.9%
16Craniofacial Abnormalities21.9%
17Amino Acid Metabolism, Inborn Errors21%
18Carbohydrate Metabolism, Inborn Errors21%
19Metal Metabolism, Inborn Errors21%
20Progeria21%
21Lysosomal Storage Diseases21%
22Peroxisomal Disorders21%
23Holoprosencephaly20.3%
24Brain Diseases, Metabolic, Inborn19.6%
25Multiple Epiphyseal Dysplasia19.5%
26Osteochondrodysplasias19.5%
27Pseudohypoparathyroidism19.4%
28Galactosemias19.4%
29Urea Cycle Disorders, Inborn19.4%
30Tyrosinemias19.4%
31Gastroschisis19.1%
32Leigh Disease18.1%
33Hyperphosphaturia17.7%
34Glycogen storage disease type II17.7%
35Menkes Kinky Hair Syndrome17.7%
36Gout17.6%
37Dwarfism17.5%
38Cockayne Syndrome17.4%
39Marfan Syndrome17%
40Zellweger Syndrome17%
41Adrenoleukodystrophy16.7%
42Refsum Disease16.5%
43Osteopenia16.4%
44Hepatolenticular Degeneration15.9%
45Homocystinuria15.8%
46Nail-Patella Syndrome15.7%
47Aicardi's syndrome15.7%
48Carbamoyl-Phosphate Synthase I Deficiency Disease15.7%
49Maxillofacial Abnormalities15.5%
50Cytochrome-c Oxidase Deficiency15.4%
51Mucopolysaccharidosis II15.1%
52Albinism14.8%
53Familial Periodic Paralysis14.8%
54Beckwith-Wiedemann Syndrome14.7%
55Wolf-Hirschhorn Syndrome14.7%
56Gaucher Disease14.7%
57Hypolipoproteinemias14.5%
58Hyperhomocysteinemia14.5%
59Mucopolysaccharidosis III14.4%
60Fabry Disease14.4%
61Mandibulofacial Dysostosis14.4%
62Osteoarthropathy, Secondary Hypertrophic14.3%
63Amelia14.2%
64Arachnodactyly14.2%
65Ectromelia14.2%
66Hemimelia14.2%
67Phocomelia14.2%
68Sirenomelia14.2%
69Polydactyly14.2%
70Brachydactyly14.2%
71Plagiocephaly14.2%
72Lower Extremity Deformities, Congenital14.2%
73Upper Extremity Deformities, Congenital14.2%
74Lactose Intolerance14.1%
75Hyperlipidemia, Familial Combined13.9%
76Alkaptonuria13.9%
77Glycogen Storage Disease13.9%
78Hypophosphatasia13.9%
79Propionic acidemia13.9%
80Dihydropyrimidine Dehydrogenase Deficiency13.9%
81Cystinosis13.9%
82Amyloid Neuropathies, Familial13.8%
83Osteogenesis Imperfecta13.8%
84Werner Syndrome13.6%
85Hyperlipoproteinemia Type III13.6%
86Gigantism13.5%
87Hyperlipoproteinemia Type IV13.4%
88Hyperlipoproteinemia Type V13.4%
89Smith-Magenis syndrome13.2%
90CHARGE Syndrome13.2%
91Microcephaly13.1%
92Macrocephaly13.1%
93Neuronal Ceroid-Lipofuscinoses13.1%
94Cri-du-Chat Syndrome13.1%
95Down Syndrome13.1%
96Trisomy 2113.1%
97Familial Hypophosphatemic Rickets13%
98Goldenhar Syndrome12.8%
99Sjogren-Larsson Syndrome12.6%
100Osteochondritis12.5%
101Prader-Willi Syndrome12.4%
102Tay-Sachs Disease12.3%
103Arthritis, Gouty12.3%
104Jaw Abnormalities12.3%
105Niemann-Pick Disease, Type C12.2%
106Congenital Hypothyroidism12.2%
107Ectodermal Dysplasia11.8%
108Aplasia Cutis Congenita11.8%
109Kartagener Syndrome11.7%
110Basal Cell Nevus Syndrome11.7%
111Renal tubular acidosis11.6%
112Laryngomalacia11.6%
113Noonan Syndrome11.5%
114Talipes11.3%
115Cystic Fibrosis11.3%
116Rickets11.1%
117Abnormalities, Drug-Induced11%
118Situs Inversus11%
119Muscular Dystrophy10.9%
120Hypoalphalipoproteinemias10.8%
121Renal Aminoacidurias10.8%
122Fanconi Syndrome10.8%
123Pseudohypoaldosteronism10.8%
124Liddle Syndrome10.8%
125Hyperostosis10.7%
126Osteitis10.7%
127Osteitis Deformans10.7%
128Osteochondrosis10.7%
129Spinal Diseases10.7%
130Hypokalemic periodic paralysis10.4%
131Fasciitis10.4%
132Foot Deformities10.4%
133Arthropathy10.4%
134Glycogen Storage Disease Type I10.3%
135Glycogen Storage Disease Type V10.3%
136MELAS Syndrome10.3%
137Fragile X Syndrome10.3%
138Muscular Dystrophy, Duchenne10.3%
139Alstrom Syndrome10.2%
140Porencephaly10.2%
141Contracture10%
142Fasciitis, Plantar10%
143Bloom Syndrome9.8%
144Canavan Disease9.7%
145Alexander Disease9.7%
146Eye Abnormalities9.7%
147Neoplastic Syndromes, Hereditary9.7%
148Cardiovascular Abnormalities9.7%
149Glycosuria, Renal9.7%
150Osteoporosis9.6%
151Bone Demineralization, Pathologic9.6%
152Post-Traumatic Osteoporosis9.6%
153Myotonic Dystrophy9.5%
154Skin Abnormalities9.5%
155Wasting Syndrome9.5%
156Lymphatic Abnormalities9.5%
157Congenital Microtia9.5%
158Bone Diseases, Endocrine9.4%
159Pelger-Huet Anomaly9.4%
160Myasthenic Syndromes, Congenital9.4%
161Spinal Neoplasms9.4%
162Spondylitis9.4%
163Prognathism9.4%
164Congenital diaphragmatic hernia9.4%
165Bone Diseases, Infectious9.3%
166Bone neoplasms9.3%
167Bone Resorption9.2%
168Aseptic Necrosis of Bone9.2%
169Jaw Diseases9.1%
170Micrognathism9.1%
171Pierre Robin Syndrome9.1%
172Congenital clubfoot9.1%
173Vertical Talus9.1%
174Cleft Palate9%
175Cartilage Diseases9%
176Foot Diseases9%
177Myopathy9%
178Rheumatism9%
179Chondromalacia9%
180Fibromyalgia8.7%
181Polymyalgia Rheumatica8.7%
182Fetal Diseases8.7%
183Anemia, Sickle Cell8.7%
184Metatarsalgia8.7%
185Thalassemia8.7%
186Polycystic Kidney Diseases8.7%
187Williams Syndrome8.7%
188Urogenital Abnormalities8.5%
189Xeroderma Pigmentosum8.4%
190Hypercalcemia8.4%
191Hypocalcemia8.4%
192Milk-Alkali Syndrome8.4%
193Retrognathia8.4%
194Acid-Base Imbalance8.2%
195Calcium Metabolism Disorders8.2%
196Iron Metabolism Disorders8.2%
197Phosphorus Metabolism Disorders8.2%
198Water-Electrolyte Imbalance8.2%
199Lipid Metabolism Disorders8.2%
200Mitochondrial Diseases8.2%
201Glucose Metabolism Disorders8.2%
202Anencephaly8.1%
203Bronchomalacia8.1%
204Tracheomalacia8.1%
205Xeroderma8.1%
206Mobius Syndrome8.1%
207Congenital Hyperinsulinism8.1%
208Mitochondrial Myopathies8%
209Retinal Dysplasia8%
210Cystinuria8%
211Ataxia Telangiectasia8%
212Aniridia8%
213Epidermolysis Bullosa7.9%
214Porphyrias, Hepatic7.7%
215Kallmann Syndrome7.7%
216Primary Ciliary Dyskinesia7.6%
217Fanconi Anemia7.6%
218Osteoarthritis, Spine7.6%
219Autoimmune Lymphoproliferative Syndrome7.4%
220Osteomalacia7.4%
221Lipodystrophy7.4%
222Dural Arteriovenous Fistula7.3%
223Chondrodysplasia Punctata7.3%
224Enchondromatosis7.3%
225Osteosclerosis7.3%
226Kashin-Beck Disease7.3%
227Dextrocardia7.3%
228Angioedemas, Hereditary7.3%
229Temporomandibular Joint Disorders7.2%
230Tuberous Sclerosis7.2%
231Wiskott-Aldrich Syndrome7.1%
232Ischemic contracture7.1%
233Brain Diseases, Metabolic7.1%
234Mitochondrial Encephalomyopathies7%
235Rheumatic Fever7%
236Optic Atrophy, Hereditary, Leber6.8%
237Myotonia Congenita6.7%
238Meconium Aspiration Syndrome6.7%
239Welander Distal Myopathy6.7%
240Pseudoxanthoma Elasticum6.6%
241Abnormalities, Radiation-Induced6.6%
242Familial Mediterranean Fever6.5%
243Prune Belly Syndrome6.5%
244Twins, Conjoined6.5%
245Waardenburg Syndrome6.5%
246Rett Syndrome6.5%
247Eosinophilic Granuloma6.4%
248Rheumatoid Arthritis6.3%
249Juvenile arthritis6.3%
250Temporomandibular Joint Dysfunction Syndrome6.2%
251Osteoporosis, Postmenopausal6.2%
252Ainhum6.2%
253Spinal Stenosis6.2%
254Spondylosis6.2%
255Intervertebral Disc Degeneration6.2%
256Classical Lissencephalies and Subcortical Band Heterotopias6.1%
257Scimitar Syndrome6.1%
258Discitis6.1%
259Hip Contracture6.1%
260Periarthritis6.1%
261Ankylosing spondylitis5.9%
262Arthritis5.8%
263Bursitis5.8%
264Joint Instability5.8%
265Myofascial Pain Syndromes5.8%
266Rhabdomyolysis5.8%
267Synovitis5.8%
268Joint laxity5.8%
269Polyarthritis5.8%
270Frozen shoulder5.8%
271Patellofemoral Pain Syndrome5.8%
272Sickle Cell Trait5.7%
273Turner Syndrome5.7%
274Polycystic Kidney, Autosomal Dominant5.7%
275Anophthalmos5.6%
276Anus, Imperforate5.6%
277Hydranencephaly5.6%
278Microphthalmos5.6%
279Neural Tube Defects5.6%
280Tethered Cord Syndrome5.6%
281Iniencephaly5.6%
282Craniorachischisis5.6%
283Exencephaly5.6%
284Septo-Optic Dysplasia5.6%
285Cortical Dysplasia5.6%
286Malformations of Cortical Development5.6%
287Anorectal Malformations5.6%
288Bone Diseases5.6%
289Renal Osteodystrophy5.6%
290Renal rickets5.6%
291Friedreich Ataxia5.5%
292Abdominal Cramps5.5%
293Amniotic Band Syndrome5.5%
294Asphyxia Neonatorum5.5%
295Infant, Premature, Diseases5.5%
296Infantile Colic5.5%
297Nesidioblastosis5.4%
298Tuberculosis, Spinal5.4%
299Osteomyelitis5.4%
300Periostitis5.4%
301Alveolar Bone Loss5.3%
302Femur Head Necrosis5.3%
303Osteolysis5.3%
304Hyperkeratosis, Epidermolytic5.3%
305Arthritis, Psoriatic5.2%
306Charcot-Marie-Tooth Disease5.2%
307Melorheostosis5.1%
308Osteopetrosis5.1%
309Osteoarthritis, Knee5.1%
310Variegate Porphyria5%
311Acute intermittent porphyria5%
312Porphyria Cutanea Tarda5%
313Deformity5%
314Genetic Diseases, Inborn5%
315Nutrition Disorders5%
316Blepharophimosis5%
317Laryngostenosis5%
318Mouth Abnormalities5%
319Compartment syndromes5%
320Maxillary Diseases5%
321Tendinitis5%
322Tendinopathy5%
323Cutis Laxa4.9%
324Esophageal Atresia4.9%
325Intestinal Atresia4.9%
326Horseshoe Kidney4.9%
327Hemarthrosis4.9%
328Myositis4.9%
329Tietze's Syndrome4.9%
330Isaacs syndrome4.9%
331Myotonic Disorders4.9%
332Retinitis Pigmentosa4.9%
333Pigmentary retinopathy4.9%
334Acrodermatitis4.9%
335Lymphangiectasis, Intestinal4.9%
336Porokeratosis4.9%
337Gianotti-Crosti Syndrome4.9%
338Keratoderma, Palmoplantar4.9%
339Chronic granulomatous disease4.9%
340Acidosis4.9%
341Alkalosis4.9%
342Amyloidosis4.9%
343Calcinosis4.9%
344Hyperglycemia4.9%
345Hyperinsulinism4.9%
346Hyperkalemia4.9%
347Hypernatremia4.9%
348Hypoglycemia4.9%
349Hypokalemia4.9%
350Hyponatremia4.9%
351Xanthomatosis4.9%
352Hypophosphatemia4.9%
353Metabolic acidosis4.9%
354Dyslipidemias4.9%
355Iron Overload4.9%
356Xanthoma4.9%
357Klinefelter Syndrome4.8%
358Acute Chest Syndrome4.8%
359Anemia, Neonatal4.7%
360Persistent Fetal Circulation Syndrome4.7%
361Umbilical hernia4.7%
362Acromegaly4.7%
363Joint Tuberculosis4.7%
364Tuberculosis, Osteoarticular4.7%
365Bone Tuberculosis4.7%
366Spondylarthropathies4.6%
367Kernicterus4.5%
368Arthritis, Reactive4.5%
369Choanal Atresia4.5%
370Tracheobronchomegaly4.5%
371Laryngocele4.5%
372Rheumatoid Nodule4.5%
373Choledochal Cyst4.4%
374Duane Retraction Syndrome4.4%
375Hermaphroditism4.4%
376Disorders of Sex Development4.4%
377Cryptorchidism4.4%
378Hypospadias4.4%
379Central Nervous System Cysts4.4%
380Dandy-Walker Syndrome4.4%
381Medial Tibial Stress Syndrome4.4%
382Peutz-Jeghers Syndrome4.4%
383Thrombasthenia4.4%
384Antithrombin III Deficiency4.4%
385Protein C Deficiency4.4%
386Afibrinogenemia4.3%
387Dystonia Musculorum Deformans4.3%
388Factor VII Deficiency4.3%
389Factor X Deficiency4.3%
390Factor XII Deficiency4.3%
391Hemophilia A4.3%
392POEMS Syndrome4.3%
393Activated Protein C Resistance4.3%
394Factor II deficiency4.3%
395Factor VIII Deficiency4.3%
396Factor V deficiency4.3%
397Factor XI Deficiency4.3%
398Hypoprothrombinemias4.3%
399Diabetes Mellitus4.3%
400Lafora Disease4.3%
401Unverricht-Lundborg Syndrome4.3%
402Muscle Cramp4.3%
403Eosinophilia-Myalgia Syndrome4.3%
404Synostosis4.3%
405Anemia, Diamond-Blackfan4.3%
406Muscle Rigidity4.3%
407Muscle Spasticity4.3%
408Cogwheel Rigidity4.3%
409Nuchal Rigidity4.3%
410Diabetic Ketoacidosis4.3%
411Dehydration4.2%
412Lipomatosis4.2%
413Water Intoxication4.2%
414Achlorhydria4.2%
415Neonatal Abstinence Syndrome4.2%
416Celiac Disease4.2%
417Sprue, Tropical4.2%
418Steatorrhea4.2%
419Sprue4.2%
420Fetal Growth Retardation4.1%
421Fetal Hypoxia4.1%
422Congenital nystagmus4.1%
423Fetal Alcohol Spectrum Disorders4.1%
424Toxoplasmosis, Congenital4.1%
425Syphilis, Congenital4.1%
426Lordosis4%
427Spondylolysis4%
428kyphosis4%
429Multiple Endocrine Neoplasia4%
430Felty Syndrome4%
431Chronic Fatigue Syndrome4%
432Bladder Exstrophy4%
433Epispadias4%
434Dermatitis, Atopic3.9%
435Multicystic Dysplastic Kidney3.9%
436HIV Wasting Syndrome3.9%
437Giant Cell Epulis3.9%
438Muscle Weakness3.9%
439Kearns-Sayre syndrome3.9%
440Musculoskeletal Pain3.8%
441Arthralgia3.8%
442Polyarthralgia3.8%
443Ectopia Cordis3.7%
444Meningomyelocele3.7%
445Spina Bifida3.7%
446Single umbilical artery3.7%
447Myelinolysis, Central Pontine3.7%
448Glycosuria3.7%
449Reye Syndrome3.7%
450Chorioamnionitis3.7%
451Hepatic Encephalopathy3.7%
452Behcet Syndrome3.6%
453Rheumatoid Vasculitis3.6%
454Palatal Neoplasms3.5%
455HIV-Associated Lipodystrophy Syndrome3.5%
456Bunion3.5%
457Fibrodysplasia Ossificans Progressiva3.5%
458Myoglobinuria3.5%
459Myositis Ossificans3.5%
460Tenosynovitis3.5%
461Sacroiliitis3.5%
462Myalgia3.4%
463Wernicke Encephalopathy3.3%
464Bone Diseases, Developmental3.3%
465Hydrops Fetalis3.3%
466Necrobiosis Lipoidica Diabeticorum3.3%
467Huntington Disease3.3%
468Sicca Syndrome3.3%
469Sjogren's Syndrome3.3%
470Aortic coarctation3.3%
471Cor Triatriatum3.3%
472Coronary Vessel Anomalies3.3%
473Dental Enamel Hypoplasia3.3%
474Patent ductus arteriosus3.3%
475Ebstein Anomaly3.3%
476Heart Septal Defects3.3%
477Hypodontia3.3%
478Macrostomia3.3%
479Meningocele3.3%
480Microstomia3.3%
481Tetralogy of Fallot3.3%
482Transposition of Great Vessels3.3%
483Hypoplastic Left Heart Syndrome3.3%
484May-Thurner Syndrome3.3%
485Encephalocele3.3%
486Acidosis, Lactic3.2%
487Calciphylaxis3.2%
488Hemosiderosis3.2%
489Ketosis3.2%
490Ketonuria3.2%
491Ketoacidosis3.2%
492Ketonemia3.2%
493Vascular calcification3.2%
494Papillon-Lefevre Disease3.2%
495Wolff-Parkinson-White Syndrome3.2%
496Arthritis, Infectious3.1%
497Anterior Compartment Syndrome3%
498Mastoiditis3%
499Petrositis3%
500Enthesopathy3%
501Arthritis, Experimental3%
502Abdominal Compartment Syndrome3%
503Polymyositis3%
504Nephroblastoma3%
505Hyperandrogenism3%
506Spondylolisthesis3%
507Ophthalmia Neonatorum3%
508Antley-Bixler Syndrome Phenotype2.9%
509Long QT Syndrome2.9%
510Tricuspid Atresia2.9%
511Arrhythmogenic Right Ventricular Dysplasia2.9%
512Gonadal Dysgenesis2.9%
513Adrenogenital Syndrome2.9%
514Ovotesticular Disorders of Sex Development2.9%
515Paralysis, Obstetric2.8%
516Retinopathy of Prematurity2.8%
517Acidosis, Respiratory2.8%
518Adiposis Dolorosa2.8%
519Alkalosis, Respiratory2.8%
520Bronchopulmonary Dysplasia2.8%
521Adenomatous Polyposis Coli2.8%
522Insulin Resistance2.8%
523Dermal Sinus2.8%
524Spina Bifida Cystica2.8%
525Spina Bifida Occulta2.8%
526Lissencephaly2.8%
527Polymicrogyria2.8%
528Pachygyria2.8%
529Schizencephaly2.8%
530Periventricular Nodular Heterotopia2.8%
531Child Nutrition Disorders2.7%
532Hypervitaminosis A2.7%
533Infant Nutrition Disorders2.7%
534Malnutrition2.7%
535Hip Dislocation2.7%
536Shoulder Dislocation2.7%
537Hip Dysplasia2.7%
538Orbital Myositis2.7%
539Dupuytren Contracture2.7%
540Pyomyositis2.6%
541Denys-Drash Syndrome2.6%
542Multiple Endocrine Neoplasia Type 12.6%
543Respiratory Distress Syndrome, Newborn2.5%
544Gestational Diabetes2.5%
545Latent Autoimmune Diabetes in Adults2.5%
546Diabetes Mellitus, Experimental2.5%
547Nephrocalcinosis2.4%
548Tetany2.4%
549Aortopulmonary Septal Defect2.4%
550Double Outlet Right Ventricle2.4%
551Endocardial Cushion Defects2.4%
552Hypercholesterolemia2.4%
553Hyperlipoproteinemias2.4%
554Hypertriglyceridemia2.4%
555Myocardial bridging2.4%
556Aorticopulmonary Septal Defect2.4%
557Cerebral Amyloid Angiopathy2.4%
558Shoulder Pain2.3%
559Primary amyloidosis2.2%
560Leukomalacia, Periventricular2.2%
561Dysostoses2.2%
562Romano-Ward Syndrome2.2%
563Nose Neoplasms2.1%
564Truncus Arteriosus, Persistent2%
565Amyotrophic Lateral Sclerosis2%
566Arteriovenous fistula1.8%
567CREST Syndrome1.8%
568Dermatomyositis1.6%
569Hyaline Membrane Disease1.6%
570Deficiency Diseases1.6%
571Starvation1.6%
572Refeeding Syndrome1.6%
573Frontotemporal dementia1.6%
574Radicular Cyst1.1%
575Kwashiorkor1.1%
576Magnesium Deficiency1.1%
577Potassium Deficiency1.1%
578Protein Deficiency1.1%
579Avitaminosis1.1%
580Obesity1.1%
581Ascorbic Acid Deficiency0.8%
582Vitamin A Deficiency0.8%
583Vitamin D Deficiency0.8%
584Vitamin E Deficiency0.8%
585Marasmus0.8%
586Obesity, Abdominal0.8%
587Pediatric Obesity0.7%
588Folic Acid Deficiency0.7%
589Pellagra0.7%
590Thiamine Deficiency0.7%
591Vitamin B 12 Deficiency0.7%
592Vitamin B 6 Deficiency0.7%
593Pyridoxine Deficiency0.7%
594Vitamin K Deficiency0.6%
595Beriberi0.6%
596Anemia, Pernicious0.5%
597Scurvy0.5%
598Subacute Combined Degeneration0.4%
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