BJ
MCID: ARM010
MIFTS: 46

Arima Syndrome (BJ)

Categories: Eye diseases, Fetal diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arima Syndrome

MalaCards integrated aliases for Arima Syndrome:

Name: Arima Syndrome 56 52 58 36 71
Dekaban-Arima Syndrome 56 52 58
Joubert Syndrome with Bilateral Chorioretinal Coloboma 56 52
Joubert Syndrome with Senior-Loken Syndrome 52 58
Joubert Syndrome with Oculorenal Defect 52 58
Cerebellooculorenal Syndrome 52 58
Js Type B 52 58
Js-or 52 58
Cors 52 58
Coloboma, Chorioretinal, with Cerebellar Vermis Aplasia 56
Chorioretinal Coloboma with Cerebellar Vermis Aplasia 52
Joubert Syndrome with Oculorenal Anomalies 52
Cerebro-Oculo-Hepato-Renal Syndrome 52
Cerebrooculohepatorenal Syndrome 56
Cerebello-Oculo-Renal Syndrome 52
Dekaban Arima Syndrome 52
Joubert Syndrome 5 52
Syndrome, Arima 39
Bj 17

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome with oculorenal defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
arima syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Arima Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2318 Definition A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. Epidemiology Prevalence is unknown. Clinical description Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life. Etiology About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner. Visit the Orphanet disease page for more resources.

MalaCards based summary : Arima Syndrome, also known as dekaban-arima syndrome, is related to joubert syndrome 5 and joubert syndrome 7, and has symptoms including ataxia An important gene associated with Arima Syndrome is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs Sumatriptan and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and cerebellum, and related phenotypes are intellectual disability and global developmental delay

OMIM : 56 Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (216360), and familial juvenile nephronophthisis (see 256100). (243910)

KEGG : 36 Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares clinical and neuroradiological features with Joubert syndrome and related disorders, that is called ciliopathy. On brain magnetic resonance imaging (MRI), AS shows characteristic anomalies of the brainstem and cerebellum, such as the molar tooth sign (deformity of the brainstem isthmus and superior cerebellar peduncles) and cerebellar vermis hypoplasia.

Related Diseases for Arima Syndrome

Diseases related to Arima Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 542, show less)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 5 33.7 TMEM216 CEP290 CC2D2A
2 joubert syndrome 7 32.6 TMEM216 CEP290 CC2D2A
3 joubert syndrome 2 32.1 TMEM216 TMEM138 CEP290 CC2D2A
4 encephalocele 30.7 CEP290 CC2D2A
5 apraxia 30.0 TMEM216 CEP290
6 cystic kidney disease 29.6 TMEM216 CEP290 CC2D2A
7 joubert syndrome 14 29.3 TMEM237 TMEM231 TMEM216
8 bardet-biedl syndrome 29.2 TMEM231 TMEM216 CEP290 CC2D2A
9 joubert syndrome 4 29.1 TMEM237 TMEM216 CEP290 CC2D2A
10 visceral heterotaxy 29.1 TMEM216 CEP290 CC2D2A
11 ellis-van creveld syndrome 28.9 TMEM216 CEP290
12 meckel syndrome, type 5 28.4 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
13 leber plus disease 28.4 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
14 coach syndrome 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
15 coloboma of macula 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
16 meckel syndrome, type 1 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
17 fundus dystrophy 27.3 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290
18 joubert syndrome 1 27.3 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290
19 nephronophthisis 27.0 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290
20 cor triatriatum 12.9
21 cor triatriatum sinister 12.8
22 cor triatriatum dexter 12.6
23 acute cor pulmonale 12.4
24 cor biloculare 12.4
25 bjornstad syndrome 12.1
26 pulmonary alveolar microlithiasis 11.6
27 medulloblastoma 11.5
28 pili torti, early-onset 11.3
29 aortic aneurysm, familial thoracic 1 11.2
30 beryllium disease 11.2
31 pulmonary embolism 11.1
32 pulmonary hypertension 10.9
33 heart septal defect 10.7
34 lung disease 10.7
35 bronchitis 10.7
36 atrial heart septal defect 10.6
37 pulmonary tuberculosis 10.6
38 mitral valve stenosis 10.6
39 congestive heart failure 10.6
40 respiratory failure 10.6
41 pulmonary disease, chronic obstructive 10.5
42 heart disease 10.5
43 pulmonary hypertension, primary, 1 10.5
44 cyanosis, transient neonatal 10.5
45 pulmonary emphysema 10.5
46 atrial fibrillation 10.4
47 cystic fibrosis 10.4
48 silicosis 10.4
49 fibrosis of extraocular muscles, congenital, 1 10.4
50 pulmonary edema 10.4
51 nephronophthisis 4 10.4
52 ciliopathy 10.4
53 ventricular septal defect 10.4
54 schistosoma mansoni infection, susceptibility/ 10.3
55 schistosomiasis 10.3
56 asphyxia neonatorum 10.3
57 mitral valve insufficiency 10.3
58 patent foramen ovale 10.3
59 vascular disease 10.3
60 pulmonary fibrosis 10.3
61 pik3ca-related overgrowth syndrome 10.3
62 syncope 10.3
63 tetralogy of fallot 10.3
64 polycythemia 10.3
65 mycobacterium tuberculosis 1 10.2
66 atrioventricular septal defect 10.2
67 sleep apnea 10.2
68 bronchiectasis 10.2
69 hypertelorism 10.2
70 nephronophthisis 1 10.2
71 ataxia and polyneuropathy, adult-onset 10.2
72 polydactyly 10.2
73 autosomal recessive disease 10.2
74 hydrocephalus 10.2
75 male infertility 10.2
76 infertility 10.2
77 situs inversus 10.2
78 dextrocardia with situs inversus 10.2
79 occipital encephalocele 10.2
80 inherited retinal disorder 10.2
81 juvenile nephronophthisis 10.2
82 oculomotor apraxia 10.2
83 tricuspid valve insufficiency 10.2
84 pneumonia 10.2
85 ptosis 10.2
86 hepatorenal syndrome 10.2
87 cardiac arrest 10.2
88 thrombosis 10.2
89 atrial septal defect coronary sinus 10.2
90 sarcoidosis 1 10.2
91 patent ductus arteriosus 1 10.2
92 anthracosis 10.2
93 ataxia-telangiectasia 10.2
94 telangiectasis 10.2
95 coronary heart disease 1 10.1
96 dextro-looped transposition of the great arteries 10.1
97 pneumoconiosis 10.1
98 retinoblastoma 10.1
99 familial retinoblastoma 10.1
100 bilateral retinoblastoma 10.1
101 uremia 10.1
102 pathologic nystagmus 10.1
103 breast cancer 10.1
104 asthma 10.1
105 leukemia, acute myeloid 10.1
106 endocarditis 10.1
107 interstitial lung disease 10.1
108 atrial standstill 1 10.1
109 aortic valve disease 1 10.1
110 myocardial infarction 10.1
111 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
112 food allergy 10.1
113 mitral valve disease 10.1
114 double outlet right ventricle 10.1
115 pulmonary valve stenosis 10.1
116 complete atrioventricular canal 10.1
117 pulmonary vein stenosis 10.1
118 pulmonary venous return anomaly 10.1
119 progressive familial heart block, type ia 10.0
120 pectus excavatum 10.0
121 stroke, ischemic 10.0
122 tricuspid atresia 10.0
123 infective endocarditis 10.0
124 scoliosis 10.0
125 disseminated intravascular coagulation 10.0
126 hemopericardium 10.0
127 pericardial effusion 10.0
128 acquired polycythemia 10.0
129 myopathy 10.0
130 hypoplastic left heart syndrome 10.0
131 double discordia 10.0
132 partial atrioventricular canal 10.0
133 single ventricular heart 10.0
134 cardiogenic shock 10.0
135 esophageal cancer 10.0
136 rheumatoid arthritis 10.0
137 myeloma, multiple 10.0
138 lung cancer susceptibility 3 10.0
139 diffuse large b-cell lymphoma 10.0
140 dermatomyositis 10.0
141 t cell deficiency 10.0
142 childhood type dermatomyositis 10.0
143 calcinosis 10.0
144 exostosis 10.0
145 severe acute respiratory syndrome 10.0
146 liver disease 10.0
147 epithelioid sarcoma 10.0
148 osteoarthritis 10.0
149 herpes simplex 10.0
150 plasma cell leukemia 10.0
151 non-secretory myeloma 10.0
152 hemophilia 10.0
153 triploidy 10.0
154 spasticity 10.0
155 acute liver failure 10.0
156 pulmonary fibrosis, idiopathic 10.0
157 pulmonary hemosiderosis 10.0
158 progressive familial heart block, type ib 10.0
159 body mass index quantitative trait locus 1 10.0
160 acute promyelocytic leukemia 10.0
161 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
162 hyperlipoproteinemia, type iii 10.0
163 lipoprotein quantitative trait locus 10.0
164 adenoid hypertrophy 10.0
165 hemosiderosis 10.0
166 dilated cardiomyopathy 10.0
167 right bundle branch block 10.0
168 pulmonary sarcoidosis 10.0
169 arteriosclerosis 10.0
170 bronchiolitis 10.0
171 heart valve disease 10.0
172 peptic ulcer disease 10.0
173 hyperthyroidism 10.0
174 myeloid leukemia 10.0
175 lupus erythematosus 10.0
176 acute myocardial infarction 10.0
177 dextrocardia 10.0
178 muscular dystrophy 10.0
179 congenital mitral stenosis 10.0
180 mitral atresia 10.0
181 hypoxia 10.0
182 thrombotic microangiopathy 10.0
183 telecanthus 10.0
184 varicose veins 10.0
185 dandy-walker syndrome 10.0
186 esophageal varix 10.0
187 pancytopenia 10.0
188 end stage renal disease 10.0
189 fatty liver disease 10.0
190 pachygyria 10.0
191 hypotonia 10.0
192 meckel syndrome, type 7 10.0 TMEM216 CC2D2A
193 joubert syndrome 10 9.9 TMEM216 CC2D2A
194 cranioectodermal dysplasia 1 9.9 CEP290 CC2D2A
195 spondyloarthropathy 1 9.9
196 systemic lupus erythematosus 9.9
197 ovarian cancer 9.9
198 immune deficiency disease 9.9
199 pierre robin syndrome 9.9
200 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
201 dermatitis, atopic 9.9
202 orthostatic intolerance 9.9
203 deficiency anemia 9.9
204 atrioventricular block 9.9
205 pollen allergy 9.9
206 asbestosis 9.9
207 inflammatory spondylopathy 9.9
208 chronic pulmonary heart disease 9.9
209 leukemia 9.9
210 sick sinus syndrome 9.9
211 transient cerebral ischemia 9.9
212 intracranial embolism 9.9
213 neuromuscular disease 9.9
214 poliomyelitis 9.9
215 acquired immunodeficiency syndrome 9.9
216 spondylitis 9.9
217 mediastinitis 9.9
218 extrinsic allergic alveolitis 9.9
219 47,xyy 9.9
220 sickle cell disease 9.9
221 aneurysm 9.9
222 encephalopathy 9.9
223 hypersomnia 9.9
224 asbestos intoxication 9.9
225 nephronophthisis 9 9.9 TMEM216 CEP290
226 joubert syndrome 24 9.9 TMEM231 CEP290
227 total anomalous pulmonary venous return 1 9.8
228 arteries, anomalies of 9.8
229 bladder cancer 9.8
230 colorectal cancer 9.8
231 cardiac conduction defect 9.8
232 cleft palate, isolated 9.8
233 coarctation of aorta 9.8
234 hair whorl 9.8
235 thrombophilia due to thrombin defect 9.8
236 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
237 obesity-hypoventilation syndrome 9.8
238 ocular motor apraxia 9.8
239 pycnodysostosis 9.8
240 rowley-rosenberg syndrome 9.8
241 body mass index quantitative trait locus 11 9.8
242 body mass index quantitative trait locus 9 9.8
243 body mass index quantitative trait locus 8 9.8
244 ventricular fibrillation, paroxysmal familial, 1 9.8
245 body mass index quantitative trait locus 4 9.8
246 body mass index quantitative trait locus 10 9.8
247 body mass index quantitative trait locus 7 9.8
248 body mass index quantitative trait locus 12 9.8
249 body mass index quantitative trait locus 14 9.8
250 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.8
251 gastric cancer 9.8
252 body mass index quantitative trait locus 18 9.8
253 body mass index quantitative trait locus 19 9.8
254 body mass index quantitative trait locus 20 9.8
255 angina pectoris 9.8
256 metabolic acidosis 9.8
257 rheumatic heart disease 9.8
258 covid-19 9.8
259 berylliosis 9.8
260 anthracosilicosis 9.8
261 klippel-feil syndrome 9.8
262 pre-eclampsia 9.8
263 hemiplegia 9.8
264 hydronephrosis 9.8
265 cardiac tamponade 9.8
266 hypertrophic cardiomyopathy 9.8
267 allergic hypersensitivity disease 9.8
268 bronchopneumonia 9.8
269 paracoccidioidomycosis 9.8
270 gout 9.8
271 polyneuropathy 9.8
272 toxic shock syndrome 9.8
273 pulmonary valve insufficiency 9.8
274 methylmalonic acidemia 9.8
275 acute chest syndrome 9.8
276 thrombocytopenia 9.8
277 duodenal ulcer 9.8
278 pericarditis 9.8
279 ankylosis 9.8
280 hemoglobinopathy 9.8
281 aortic aneurysm 9.8
282 lactic acidosis 9.8
283 thrombophlebitis 9.8
284 systemic scleroderma 9.8
285 liver cirrhosis 9.8
286 arteriolosclerosis 9.8
287 aortic valve insufficiency 9.8
288 subvalvular aortic stenosis 9.8
289 hemolytic anemia 9.8
290 myocarditis 9.8
291 collagen disease 9.8
292 vasculitis 9.8
293 achalasia 9.8
294 homocystinuria 9.8
295 hypereosinophilic syndrome 9.8
296 48,xyyy 9.8
297 aminoaciduria 9.8
298 bronchopulmonary dysplasia 9.8
299 chronic thromboembolic pulmonary hypertension 9.8
300 congenitally corrected transposition of the great arteries 9.8
301 eisenmenger syndrome 9.8
302 anoxia 9.8
303 interatrial communication 9.8
304 rapidly involuting congenital hemangioma 9.8
305 progressive muscular dystrophy 9.8
306 acute monoblastic/monocytic leukemia 9.8
307 atrial septal aneurysm 9.8
308 nephronophthisis 7 9.8 TMEM138 CEP290 CC2D2A
309 joubert syndrome 6 9.8 TMEM216 CEP290 CC2D2A
310 oligohydramnios 9.8 TMEM231 CC2D2A
311 joubert syndrome 9 9.8 TMEM216 CEP290 CC2D2A
312 nephronophthisis 11 9.8 TMEM216 CEP290 CC2D2A
313 joubert syndrome 13 9.8 TMEM216 CEP290 CC2D2A
314 joubert syndrome 8 9.8 TMEM216 CEP290 CC2D2A
315 nephronophthisis 14 9.7 ZNF423 CEP290 CC2D2A
316 bardet-biedl syndrome 14 9.7 TMEM216 CEP290 CC2D2A
317 nephronophthisis 2 9.7 TMEM216 CEP290 CC2D2A
318 joubert syndrome 3 9.7 TMEM216 CEP290 CC2D2A
319 alcohol dependence 9.7
320 atherosclerosis susceptibility 9.7
321 gastroesophageal reflux 9.7
322 hepatocellular carcinoma 9.7
323 cardiac arrhythmia 9.7
324 charcot-marie-tooth disease, demyelinating, type 1a 9.7
325 renal cell carcinoma, nonpapillary 9.7
326 hypertension, essential 9.7
327 leukemia, acute monocytic 9.7
328 obsessive-compulsive disorder 9.7
329 oculopharyngeal muscular dystrophy 9.7
330 pheochromocytoma 9.7
331 prostate cancer 9.7
332 raynaud disease 9.7
333 silver-russell syndrome 1 9.7
334 scleroderma, familial progressive 9.7
335 neural tube defects 9.7
336 down syndrome 9.7
337 wolff-parkinson-white syndrome 9.7
338 anus, imperforate 9.7
339 atrioventricular dissociation 9.7
340 central hypoventilation syndrome, congenital 9.7
341 chondrosarcoma 9.7
342 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
343 ebstein anomaly 9.7
344 endocardial fibroelastosis 9.7
345 hallermann-streiff syndrome 9.7
346 hemangiopericytoma, malignant 9.7
347 hemihyperplasia, isolated 9.7
348 hypoadrenocorticism, familial 9.7
349 myopathy, congenital 9.7
350 myopathy, congenital, with fiber-type disproportion 9.7
351 myxoma, intracardiac 9.7
352 osteogenic sarcoma 9.7
353 pulmonary atresia with intact ventricular septum 9.7
354 pulmonic stenosis 9.7
355 respiratory distress syndrome in premature infants 9.7
356 heterotaxy, visceral, 5, autosomal 9.7
357 methylmalonic aciduria and homocystinuria, cblc type 9.7
358 adrenal hypoplasia, congenital 9.7
359 mental retardation, skeletal dysplasia, and abducens palsy 9.7
360 budd-chiari syndrome 9.7
361 xanthomatosis 9.7
362 rigid spine muscular dystrophy 1 9.7
363 panbronchiolitis, diffuse 9.7
364 renal cell carcinoma, papillary, 1 9.7
365 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.7
366 anorexia nervosa 9.7
367 nasopharyngeal carcinoma 9.7
368 anxiety 9.7
369 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
370 kawasaki disease 9.7
371 leukemia, acute lymphoblastic 9.7
372 alpha-1-antitrypsin deficiency 9.7
373 aspergillosis 9.7
374 muscle hypertrophy 9.7
375 ventricular septal defect 1 9.7
376 melanoma, cutaneous malignant 10 9.7
377 chronic mountain sickness 9.7
378 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
379 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
380 chorea, childhood-onset, with psychomotor retardation 9.7
381 helix syndrome 9.7
382 aspiration pneumonia 9.7
383 restless legs syndrome 9.7
384 intestinal schistosomiasis 9.7
385 brown-vialetto-van laere syndrome 9.7
386 paraganglioma 9.7
387 sinoatrial node disease 9.7
388 adrenal gland pheochromocytoma 9.7
389 lymphoma 9.7
390 crest syndrome 9.7
391 idiopathic scoliosis 9.7
392 omphalocele 9.7
393 wet beriberi 9.7
394 dry beriberi 9.7
395 fibrous dysplasia 9.7
396 congenital fiber-type disproportion 9.7
397 aortic dissection 9.7
398 frontometaphyseal dysplasia 9.7
399 sensorineural hearing loss 9.7
400 hyperlucent lung 9.7
401 pleurisy 9.7
402 tonsillitis 9.7
403 microinvasive gastric cancer 9.7
404 portal hypertension 9.7
405 fiedler's myocarditis 9.7
406 gastric ulcer 9.7
407 spastic quadriplegia 9.7
408 sarcoma 9.7
409 diphtheria 9.7
410 hypertensive heart disease 9.7
411 infant gynecomastia 9.7
412 goiter 9.7
413 plica syndrome 9.7
414 secondary hyperparathyroidism 9.7
415 hepatic coma 9.7
416 acute leukemia 9.7
417 gynecomastia 9.7
418 newborn respiratory distress syndrome 9.7
419 quadriplegia 9.7
420 choreatic disease 9.7
421 branch retinal artery occlusion 9.7
422 central retinal artery occlusion 9.7
423 hepatic encephalopathy 9.7
424 hyperparathyroidism 9.7
425 eclampsia 9.7
426 beriberi 9.7
427 multiple cranial nerve palsy 9.7
428 squamous cell papilloma 9.7
429 gonadal dysgenesis 9.7
430 farmer's lung 9.7
431 niemann-pick disease 9.7
432 echinococcosis 9.7
433 rheumatic fever 9.7
434 status epilepticus 9.7
435 melanoma 9.7
436 gaucher's disease 9.7
437 hepatitis b 9.7
438 constipation 9.7
439 iron metabolism disease 9.7
440 wernicke encephalopathy 9.7
441 hemangioma 9.7
442 larynx cancer 9.7
443 papilloma 9.7
444 transitional cell carcinoma 9.7
445 synovitis 9.7
446 acute interstitial pneumonia 9.7
447 laryngeal squamous cell carcinoma 9.7
448 endometriosis 9.7
449 glomerulonephritis 9.7
450 anuria 9.7
451 antiphospholipid syndrome 9.7
452 glioblastoma multiforme 9.7
453 lipid metabolism disorder 9.7
454 skin papilloma 9.7
455 aspiration pneumonitis 9.7
456 ischemia 9.7
457 vaccinia 9.7
458 choriocarcinoma 9.7
459 gastritis 9.7
460 tricuspid valve stenosis 9.7
461 intracranial thrombosis 9.7
462 spindle cell sarcoma 9.7
463 peanut allergy 9.7
464 nut allergy 9.7
465 rhinitis 9.7
466 pancreatitis 9.7
467 lung oat cell carcinoma 9.7
468 anterolateral myocardial infarction 9.7
469 posterior myocardial infarction 9.7
470 eosinophilic pneumonia 9.7
471 conjunctivitis 9.7
472 connective tissue disease 9.7
473 inherited metabolic disorder 9.7
474 b-cell lymphoma 9.7
475 subacute thyroiditis 9.7
476 thyroiditis 9.7
477 childhood leukemia 9.7
478 chronic kidney disease 9.7
479 chronic rhinitis 9.7
480 peritonitis 9.7
481 appendicitis 9.7
482 retinal artery occlusion 9.7
483 monocytic leukemia 9.7
484 subacute delirium 9.7
485 neurofibromatosis 9.7
486 intermediate coronary syndrome 9.7
487 central sleep apnea 9.7
488 lymphangitis 9.7
489 status asthmaticus 9.7
490 allergic asthma 9.7
491 pulmonary eosinophilia 9.7
492 lymph node disease 9.7
493 disorders of intracellular cobalamin metabolism 9.7
494 isolated methylmalonic acidemia 9.7
495 trichorhinophalangeal syndrome 9.7
496 acute monoblastic leukemia 9.7
497 amaurosis fugax 9.7
498 chromophil renal cell carcinoma 9.7
499 desmoplastic small round cell tumor 9.7
500 diencephalic syndrome 9.7
501 double outlet left ventricle 9.7
502 double outlet right atrium 9.7
503 fibrosing mediastinitis 9.7
504 methylmalonic acidemia with homocystinuria 9.7
505 polymyositis 9.7
506 primary agammaglobulinemia 9.7
507 pulmonary supravalvular stenosis 9.7
508 splenomegaly 9.7
509 staphylococcal toxic shock syndrome 9.7
510 raynaud phenomenon 9.7
511 depression 9.7
512 rigid spine muscular dystrophy 9.7
513 atrial fibrillation and stroke 9.7
514 brain injury 9.7
515 headache 9.7
516 hypertonia 9.7
517 traumatic brain injury 9.7
518 atrial standstill 9.7
519 submucosal cleft palate 9.7
520 pulmonary arterial hypertension associated with portal hypertension 9.7
521 absence of the pulmonary artery 9.7
522 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 9.7
523 staphylococcal scarlet fever 9.7
524 renal dysplasia 9.7
525 double-orifice mitral valve 9.7
526 cleft mitral valve 9.7
527 overgrowth syndrome 9.7
528 metabolic myopathy 9.7
529 orofaciodigital syndrome 9.7 TMEM231 TMEM216 CEP290
530 joubert syndrome 20 9.5 TMEM237 TMEM231
531 primary ciliary dyskinesia 9.4 TMEM216 CEP290 CC2D2A
532 polycystic kidney disease 4 with or without polycystic liver disease 9.3 TMEM231 TMEM216 CEP290 CC2D2A
533 kartagener syndrome 9.1 TMEM237 TMEM216 CEP290 CC2D2A
534 johanson-blizzard syndrome 9.0 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
535 meckel syndrome, type 8 9.0 TMEM237 TMEM231 TMEM216 CC2D2A
536 senior-loken syndrome 1 9.0 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
537 meckel syndrome, type 2 8.7 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
538 meckel syndrome, type 6 8.7 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
539 meckel syndrome, type 3 8.7 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
540 meckel syndrome, type 4 8.4 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
541 orofaciodigital syndrome vi 8.4 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
542 short-rib thoracic dysplasia 1 with or without polydactyly 8.0 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290

Graphical network of the top 20 diseases related to Arima Syndrome:



Diseases related to Arima Syndrome

Symptoms & Phenotypes for Arima Syndrome

Human phenotypes related to Arima Syndrome:

58 31 (showing 64, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
7 tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002789
8 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
9 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
10 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
11 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
14 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
15 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
16 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
17 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
18 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
19 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
22 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
23 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
24 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
29 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
30 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
31 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
32 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
33 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
34 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
35 seizure 31 occasional (7.5%) HP:0001250
36 hepatomegaly 31 HP:0002240
37 behavioral abnormality 58 Frequent (79-30%)
38 seizures 58 Occasional (29-5%)
39 visual impairment 58 Frequent (79-30%)
40 intellectual disability, severe 31 HP:0010864
41 dyspnea 31 HP:0002094
42 malformation of the heart and great vessels 58 Occasional (29-5%)
43 hepatic steatosis 31 HP:0001397
44 hepatic fibrosis 31 HP:0001395
45 wide mouth 31 HP:0000154
46 intellectual disability, progressive 31 HP:0006887
47 polycystic kidney dysplasia 31 HP:0000113
48 nephronophthisis 31 HP:0000090
49 postaxial hand polydactyly 31 HP:0001162
50 postaxial foot polydactyly 31 HP:0001830
51 gray matter heterotopia 31 HP:0002282
52 generalized hypotonia 31 HP:0001290
53 stage 5 chronic kidney disease 31 HP:0003774
54 aplasia/hypoplasia of the cerebellar vermis 31 HP:0006817
55 agenesis of cerebellar vermis 31 HP:0002335
56 brainstem dysplasia 31 HP:0002508
57 renal tubular atrophy 31 HP:0000092
58 tubulointerstitial fibrosis 31 HP:0005576
59 hypoplasia of the brainstem 31 HP:0002365
60 psychomotor retardation 31 HP:0025356
61 dilated fourth ventricle 31 HP:0002198
62 occipital meningocele 31 HP:0002436
63 renal corticomedullary cysts 31 HP:0000108
64 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatic fibrosis

Genitourinary Kidneys:
renal insufficiency
polycystic kidneys
interstitial fibrosis
tubular atrophy
corticomedullary cysts
more
Skeletal Hands:
postaxial polydactyly

Head And Neck Mouth:
large mouth

Head And Neck Eyes:
blindness
nystagmus
chorioretinal coloboma
retinal dystrophy
blepharoptosis
more
Neurologic Central Nervous System:
ataxia
psychomotor retardation
occipital meningocele
hypotonia
developmental delay
more
Skeletal Feet:
postaxial polydactyly

Respiratory:
neonatal tachypnea
neonatal dyspnea

Clinical features from OMIM:

243910

UMLS symptoms related to Arima Syndrome:


ataxia

Drugs & Therapeutics for Arima Syndrome

Drugs for Arima Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 21, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
2
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
3 Neurotransmitter Agents Phase 4
4 Vasoconstrictor Agents Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Serotonin Receptor Agonists Phase 4
7 Serotonin 5-HT1 Receptor Agonists Phase 4
8 Analgesics Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antirheumatic Agents Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
14
Fluorouracil Approved Phase 1 51-21-8 3385
15
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
16 Protein Kinase Inhibitors Phase 1
17 Immunologic Factors Phase 1
18 Immunosuppressive Agents Phase 1
19 Antimetabolites Phase 1
20
Metronidazole Approved 443-48-1 4173
21 Cola

Interventional clinical trials:

(showing 7, show less)
# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate "Completeness of Response" Following Treatment With Treximet™ for Migraine Completed NCT00893737 Phase 4 sumatriptan succinate 85 mg/naproxen sodium 500 mg (Treximet)
2 Phase I Study of Pre-operative Continuous 5-FU, and Sorafenib With External Radiation Therapy in Locally Advanced Rectal Adenocarcinoma Completed NCT01376453 Phase 1 Sorafenib;5-Fluorouracil (5-FU)
3 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
4 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
5 A Clinical Validation Study of Two Computerized Systems Called the 3D-Colonoscopy Progression Score and 3D-Colonoscopy Retraction Score Completed NCT03587935
6 A Validation Study of the 3D-CoPS and 3D-CoRS and Its Relationship With an International Acknowledged Assessment Tool (ETS) in Simulated Colonoscopy Completed NCT03401723
7 Nursing Consultation in Out-patient Clinics for Patients With Inflammatory Rheumatic Disease Completed NCT00403676

Search NIH Clinical Center for Arima Syndrome

Genetic Tests for Arima Syndrome

Anatomical Context for Arima Syndrome

MalaCards organs/tissues related to Arima Syndrome:

40
Kidney, Brain, Cerebellum, Liver, Eye, Heart, Testes

Publications for Arima Syndrome

Articles related to Arima Syndrome:

(showing 31, show less)
# Title Authors PMID Year
1
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. 61 56
15384098 2004
2
Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. 56 61
3598133 1986
3
Nephronophthisis 6
27336129 2016
4
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 6
22863007 2012
5
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 6
22282472 2012
6
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 6
20512146 2010
7
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 6
20036350 2010
8
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 6
18950740 2008
9
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 6
18387594 2008
10
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 6
17564967 2007
11
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 6
16682970 2006
12
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 6
16682973 2006
13
Joubert Syndrome 6
20301500 2003
14
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. 56
7538263 1994
15
On Saraiva and Baraitser and Joubert syndrome: a review. 56
8362922 1993
16
Joubert syndrome associated with Leber amaurosis and multicystic kidneys. 56
8456821 1993
17
Joubert syndrome: a review. 56
1341417 1992
18
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. 56
6747764 1984
19
The Joubert syndrome associated with bilateral chorioretinal coloboma. 56
7439204 1980
20
Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. 56
5362879 1969
21
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. 61
29217415 2018
22
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. 61
23845172 2014
23
Nationwide survey of Arima syndrome: a note of doubt. 61
24054506 2014
24
Reply to the letter: "nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis". 61
24063856 2014
25
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? 61
21041048 2011
26
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. 61
20728296 2011
27
[A case of arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis]. 61
17184024 2006
28
[Arima syndrome(cerebro-oculo-hepato-renal syndrome)]. 61
11057224 2000
29
Clinical nosologic and genetic aspects of Joubert and related syndromes. 61
10511339 1999
30
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 61
10508989 1999
31
Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. 61
9742540 1998

Variations for Arima Syndrome

Expression for Arima Syndrome

Search GEO for disease gene expression data for Arima Syndrome.

Pathways for Arima Syndrome

Pathways related to Arima Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 TMEM216 CEP290 CC2D2A

GO Terms for Arima Syndrome

Cellular components related to Arima Syndrome according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
2 cilium GO:0005929 9.63 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
3 photoreceptor connecting cilium GO:0032391 9.32 TMEM237 CEP290
4 MKS complex GO:0036038 9.26 TMEM231 TMEM216 CEP290 CC2D2A
5 ciliary transition zone GO:0035869 9.02 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A

Biological processes related to Arima Syndrome according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.43 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
2 smoothened signaling pathway GO:0007224 9.37 TMEM231 CC2D2A
3 ciliary basal body-plasma membrane docking GO:0097711 9.33 TMEM216 CEP290 CC2D2A
4 camera-type eye development GO:0043010 9.32 TMEM231 CC2D2A
5 non-motile cilium assembly GO:1905515 9.26 TMEM216 CC2D2A
6 cell projection organization GO:0030030 9.1 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A

Sources for Arima Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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