BJ
MCID: ARM010
MIFTS: 56

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 57 20 58 36 71
Dekaban-Arima Syndrome 57 20 58
Joubert Syndrome with Bilateral Chorioretinal Coloboma 57 20
Joubert Syndrome with Senior-Loken Syndrome 20 58
Joubert Syndrome with Oculorenal Defect 20 58
Cerebello-Oculo-Renal Syndrome 20 6
Cerebellooculorenal Syndrome 20 58
Js Type B 20 58
Js-or 20 58
Cors 20 58
Coloboma, Chorioretinal, with Cerebellar Vermis Aplasia 57
Chorioretinal Coloboma with Cerebellar Vermis Aplasia 20
Joubert Syndrome with Oculorenal Anomalies 20
Cerebro-Oculo-Hepato-Renal Syndrome 20
Cerebrooculohepatorenal Syndrome 57
Dekaban Arima Syndrome 20
Joubert Syndrome 5 20
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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2318DefinitionA rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.EpidemiologyPrevalence is unknown.Clinical descriptionPatients 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.EtiologyAbout 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 are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Tacrolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are intellectual disability and ataxia

OMIM® : 57 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 (see 216360), and familial juvenile nephronophthisis (see 256100). (243910) (Updated 05-Mar-2021)

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:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 5 32.5 TMEM216 CEP290 CC2D2A
2 joubert syndrome 7 31.9 TMEM216 CEP290 CC2D2A
3 joubert syndrome 2 31.6 TMEM216 TMEM138 CEP290 CC2D2A
4 nephronophthisis 1 30.3 NPHP4 CC2D2A
5 encephalocele 30.3 CEP290 CC2D2A
6 apraxia 29.9 CEP290 CC2D2A
7 ciliopathy 29.8 TMEM231 NPHP4 CEP290 CC2D2A
8 cystic kidney disease 29.7 NPHP4 CEP290 CC2D2A
9 polydactyly 29.6 TMEM231 TMEM216 CEP290 CC2D2A
10 joubert syndrome 14 29.1 TMEM237 TMEM231 TMEM216 NPHP4
11 joubert syndrome 4 29.0 TMEM237 TMEM216 NPHP4 CEP290 CC2D2A
12 meckel syndrome, type 5 28.5 TMEM237 TMEM231 TMEM216 NPHP4 CEP290 CC2D2A
13 leber plus disease 28.5 TMEM237 TMEM231 TMEM216 NPHP4 CEP290 CC2D2A
14 coloboma of macula 28.2 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4 CEP290
15 meckel syndrome, type 1 28.2 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4 CEP290
16 fundus dystrophy 28.1 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4 CEP290
17 joubert syndrome 1 27.8 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4
18 nephronophthisis 27.4 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4
19 nephronophthisis 4 10.3
20 asphyxia neonatorum 10.2
21 ptosis 10.1
22 hepatorenal syndrome 10.1
23 hypertelorism 10.1
24 ataxia and polyneuropathy, adult-onset 10.1
25 autosomal recessive disease 10.1
26 hydrocephalus 10.1
27 male infertility 10.1
28 infertility 10.1
29 situs inversus 10.1
30 dextrocardia with situs inversus 10.1
31 occipital encephalocele 10.1
32 inherited retinal disorder 10.1
33 oculomotor apraxia 10.1
34 joubert syndrome 10 10.1 TMEM216 CC2D2A
35 retinal aplasia 10.1 NPHP4 CEP290
36 retinoblastoma 10.0
37 bilateral retinoblastoma 10.0
38 uremia 10.0
39 pathologic nystagmus 10.0
40 anus cancer 10.0
41 anal squamous cell carcinoma 10.0
42 nephronophthisis 19 10.0 NPHP4 CEP290
43 joubert syndrome 24 10.0 TMEM231 CEP290
44 nephronophthisis 16 10.0 NPHP4 CEP290
45 joubert syndrome 6 9.9 TMEM216 CEP290 CC2D2A
46 orofaciodigital syndrome iv 9.9 TMEM231 TMEM216
47 joubert syndrome 9 9.9 TMEM216 CEP290 CC2D2A
48 joubert syndrome 13 9.9 TMEM216 CEP290 CC2D2A
49 joubert syndrome 8 9.9 TMEM216 CEP290 CC2D2A
50 leber congenital amaurosis 3 9.9 NPHP4 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 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
5 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
6 tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002789
7 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
8 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
9 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
10 hypotonia 31 hallmark (90%) HP:0001252
11 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
14 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
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 seizures 58 Occasional (29-5%)
37 muscular hypotonia 58 Very frequent (99-80%)
38 hepatomegaly 31 HP:0002240
39 behavioral abnormality 58 Frequent (79-30%)
40 visual impairment 58 Frequent (79-30%)
41 intellectual disability, severe 31 HP:0010864
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 dyspnea 31 HP:0002094
46 wide mouth 31 HP:0000154
47 intellectual disability, progressive 31 HP:0006887
48 polycystic kidney dysplasia 31 HP:0000113
49 nephronophthisis 31 HP:0000090
50 postaxial hand polydactyly 31 HP:0001162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
blindness
chorioretinal coloboma
retinal dystrophy
blepharoptosis
more
Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatic fibrosis

Skeletal Hands:
postaxial polydactyly

Head And Neck Mouth:
large mouth

Neurologic Central Nervous System:
ataxia
psychomotor retardation
occipital meningocele
hypotonia
developmental delay
more
Genitourinary Kidneys:
renal insufficiency
polycystic kidneys
interstitial fibrosis
tubular atrophy
corticomedullary cysts
more
Skeletal Feet:
postaxial polydactyly

Respiratory:
neonatal tachypnea
neonatal dyspnea

Clinical features from OMIM®:

243910 (Updated 05-Mar-2021)

UMLS symptoms related to Arima Syndrome:


ataxia

MGI Mouse Phenotypes related to Arima Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CC2D2A CEP290 NPHP4 TMEM138 TMEM231 TMEM237
2 nervous system MP:0003631 9.43 CC2D2A CEP290 NPHP4 TMEM231 TMEM237 ZNF423
3 vision/eye MP:0005391 9.02 CC2D2A CEP290 NPHP4 TMEM138 TMEM231

Drugs & Therapeutics for Arima Syndrome

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
3
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
7
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
8
Ethanol Approved Phase 4 64-17-5 702
9
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
10
Apixaban Approved Phase 4 503612-47-3 10182969
11 Kava Approved, Investigational, Nutraceutical Phase 4 9000-38-8
12 Immunosuppressive Agents Phase 4
13 Immunologic Factors Phase 4
14 Antifungal Agents Phase 4
15 Antibiotics, Antitubercular Phase 4
16 Anti-Infective Agents Phase 4
17 Anti-Bacterial Agents Phase 4
18 Dopamine Agents Phase 4
19 Cytochrome P-450 Enzyme Inhibitors Phase 4
20 Anti-Obesity Agents Phase 4
21 Dopamine Uptake Inhibitors Phase 4
22 Narcotics Phase 4
23 Neurotransmitter Agents Phase 4
24 Psychotropic Drugs Phase 4
25 Antidepressive Agents Phase 4
26 Narcotic Antagonists Phase 4
27 Bupropion hydrochloride, naltrexone hydrochoride drug combination Phase 4
28 Calcium, Dietary Phase 4
29 Antithrombins Phase 4
30 Pharmaceutical Solutions Phase 4
31 Fibrinolytic Agents Phase 4
32 Plasminogen Phase 4
33 Serine Proteinase Inhibitors Phase 4
34 HIV Protease Inhibitors Phase 4
35 Factor Xa Inhibitors Phase 4
36 Tissue Plasminogen Activator Phase 4
37 Anticoagulants Phase 4
38 calcium heparin Phase 4
39
protease inhibitors Phase 4
40 Antithrombin III Phase 4
41
Calcium Nutraceutical Phase 4 7440-70-2 271
42
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
43
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
44 Immunoglobulins Phase 2
45 Antibodies Phase 2
46 Autoantibodies Phase 2
47
Panitumumab Approved, Investigational Phase 1 339177-26-3 50070211
48 Anti-Inflammatory Agents Phase 1
49 Adrenergic Agents Phase 1
50 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 An Open-label, Concentration Controlled, Randomized, 12 Month Study of Prograf + Rapamune + Cor Completed NCT00044720 Phase 4 Rapamune
2 Cryoenergy Or Radiofrequency for Pulmonary Vein Isolation (COR Trial) Completed NCT00969735 Phase 4
3 Trial Evaluating Effectiveness of Contrave (Naltrexone HCl / Bupropion HCl) for Weight Maintenance in Adults With BMI ≥ 27 Kg/m2, After 6 Month Intensive Behavior Modification Program: Contrave Obesity Trials (COR) Weight Maintenance Study Not yet recruiting NCT04589130 Phase 4 Contrave 8Mg-90Mg Extended-Release Tablet;Placebo
4 A Randomized Controlled Trial Evaluating the Effectiveness of Contrave (Naltrexone HCl and Bupropion HCl) in Patients Who Have Weight Recidivism Following Bariatric Surgery: Contrave Obesity Trials (COR) Weight Regain Study Not yet recruiting NCT04587843 Phase 4 Contrave 8Mg-90Mg Extended-Release Tablet;Placebo
5 Standard-dose Apixaban AFtEr Very Low-dose ThromboLYSis for Acute Intermediate-high Risk Acute Pulmonary Embolism Suspended NCT03988842 Phase 4 Alteplase;Unfractionated heparin;Placebo;Apixaban
6 An Open Label Study to Assess the Safety and Efficacy of COR-003 (Levoketoconazole) in the Treatment of Endogenous Cushing's Syndrome Completed NCT01838551 Phase 3 COR-003
7 Intraumbilical Oxytocin Compared to Placental Cord Drainage in the Management of Third Stage of Labor: A Randomized Controlled Study Unknown status NCT03395730 Phase 2 Intraumbilical vein injection oxytocin
8 COR-1, an Anti-Beta1 Receptor Antibody Cyclopeptide in Heart Failure: a Phase II, Multicentre, Randomised, Double-Blind and Placebo-Controlled Study With Parallel Groups Completed NCT01391507 Phase 2 0.9 % sodium chloride;COR-1;Standard therapy for heart failure
9 A Phase 1/2 Randomized, Double-blind, Placebo Controlled, Cohort Dose-escalation Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of Multiple Doses of COR-001 Completed NCT02868229 Phase 1, Phase 2 COR-001
10 Randomized, Double-blind, Placebo Controlled, Parallel Group, Multi-centre, First-in-human, Phase Ib/II Study to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, Immunogenicity, and Efficacy of COR-101 in Hospitalized Patients Not yet recruiting NCT04674566 Phase 1, Phase 2 COR-101;Placebo
11 A Phase 1 Randomized, Double-Blind, Placebo-Controlled, Cohort Dose-Escalation Study in Patients With Chronic Kidney Disease to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of a Single Dose of COR-001 (COR-001-SC1) Completed NCT03126318 Phase 1 COR-001;Placebo
12 A Single-Blind Placebo-Controlled Dose Escalating Safety and Pharmacokinetic Study of an Acute Intravenous Administration of Cor-1, An Anti-ß1 Receptor Antibody Cyclopeptide, in Five Different Strengths in Healthy Male Volunteers Completed NCT01043146 Phase 1 COR-1;placebo
13 Pilot Study Evaluating Panitumumab-IRDye800 and 89Zr-Panitumumab for Dual-Modality Imaging for Nodal Staging in Head and Neck Cancer Active, not recruiting NCT03733210 Phase 1 Panitumumab-IRDye800;Zirconium Zr-89 Panitumumab
14 A Phase I Study of Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple Doses of Recombinant Humanized Anti-PD-1 Monoclonal Antibody for Injection in Patients With Advanced Solid Tumors Active, not recruiting NCT02836834 Phase 1
15 PET/CT for the Quantification of Atherosclerotic Plaque Inflammation in Patients With Coronary Heart Disease: The QAEK Trial Unknown status NCT01553513
16 Multi-center Register for the Use of the Cor-Knot® Automated Knotting System in Heart Valve Surgery Unknown status NCT03681834
17 COR-PRIM: Problem-based Learning in Patient Education After an Event of Coronary Heart Disease. A Randomised Study in Primary Care of Long-term Effects on Self-care Unknown status NCT01462799
18 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
19 Computer Simulated Atrial Fibrillation Tool to Reduce Hospitalizations and Emergency Department Visits Completed NCT03080857
20 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
21 Safety and Effectiveness of JetStream (JS) Atherectomy in Femoropopliteal In-Stent Restenotic Lesions: A Prospective Registry Completed NCT01722877
22 Efficacy and Safety of the Setrox JS Lead (J=J-shaped, S=Screw) Completed NCT01487941
23 The Effect of External Diaphragmatic Pacemaker on the Patients With Chronic Cor Pulmonale Completed NCT02976324
24 Synchronized Cardiac Assist for Cardiogenic Shock. The SynCor Trial Completed NCT02697006 i-cor Synchronized Cardiac Assist Device
25 COR-KNOT Versus Manually Hand-tied Knots Completed NCT02720913
26 Comparison of Automated Fastener Device Versus Manually Tied Knot in Minimally-invasive Isolated Aortic Valve Replacement Surgery Completed NCT03664102
27 Turning Night Into Day: Transcontinental Provision of Telehealth By and For the Emory Community Completed NCT02895997
28 Initial Safety and Performance of the COR-VP-001 Vascular Patch in Pediatric Patients Undergoing Bidirectional Cava-pulmonary Anastomosis Completed NCT02377700
29 To Assess the Initial Safety and Performance of COR-VG-001 Conduit in Pediatric Patients Undergoing Extracardiac Total Cavopulmonary Connection (EC-TCPC) Completed NCT02377674
30 PV Cryoablation Efficacy Using Electrophysiological Endpoints and the New Generation ArticFont Advance ST Catheter (COR ADVANCE Study) Completed NCT02588183
31 Observational Study of Comparison of Echocardiographic Markers of Right Ventricular Function and Electrocardiographic Signs of Chronic Cor Pulmonale in Elderly Patient With COPD Completed NCT01554774
32 COR HF - Clinical Benefits in Optimized Remote HF Patient Management Completed NCT01482598
33 The NOR-COR (NORwegian CORonary) Study: Identification of CHD Patients With Poor Adherence to Secondary Prevention and Their Perceived Needs for Follow-up Completed NCT02309255
34 Measuring Thoracic Impedance in Hemodialysis Patients With the µ-Cor System A Pre-Market Validation Study (MaTcH) Completed NCT03072732
35 Small Intestinal Absorption in Patients With Chronic Obstructive Pulmonary Disease Complicated by Cor Pulmonale: A Pilot Study Completed NCT03243994
36 Two Years Follow up of Corneal Cor Cross-linking and Refractive Surface Ablation in Patients With Asymmetric Corneal Topography Completed NCT02943967
37 Vital Signs Validation Study of the μ-Cor System (ViVUS Validation) Completed NCT02975050
38 Comparison of Effect of Animal and Plant Sources of Omega-3 PUFA in Prevention of Cardiovascular and Metabolic Diseases Recruiting NCT04208308 Early Phase 1
39 Continuous Aspiration Thrombectomy in High and Intermediate-high Risk Pulmonary Embolism Patients Recruiting NCT04473560
40 VIenna Pilot Study for Automated Annular Suturing Technology to Assist in Aortic & Mitral Valve Replacement - A Single-center Clinical Safety & Feasibility Pilot Trial Recruiting NCT04659655
41 CorMatrix Cor TRICUSPID ECM Valve Replacement Safety and Early Feasibility Recruiting NCT02397668
42 Angina in Patients Without Obstructive Coronary Disease as Revealed by CT Coronary Angiography (Cor-CTCA): an Observational Cohort Study Involving Coronary Function Tests and a Nested Randomised Trial Recruiting NCT03477890
43 A Multifactorial 'Urica Cor Intervention' to Prevent Cardiovascular Disease in People With Gout: Protocol for the Multicentre, Randomised Controlled, Blinded Endpoint URICORI Trial Recruiting NCT04459936
44 The Value of Combined Critical Care Ultrasound and PAC Monitor Oriented Therapy Protocol (CUP Protocol) to Prevention and Treatment of Patients of ARDS(Acute Respiratory Distress Syndrome) With ACP(Acute Cor Pulmonate) Not yet recruiting NCT03971331
45 Effects of Zortress® + Tacrolimus vs. Standard Immunosuppression on Progression of Coronary Artery Calcifications and Bone Disease in de Novo Renal Transplant Recipients Withdrawn NCT01612299 Zortress® /Everolimus
46 Cardiovascular Diagnosis Using µ-Cor - an Interventional Pilot Trial Withdrawn NCT02700191

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
Eye, Brain, Cerebellum, Heart, Kidney, Hypothalamus, Pituitary

Publications for Arima Syndrome

Articles related to Arima Syndrome:

(show all 30)
# Title Authors PMID Year
1
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. 57 61
15384098 2004
2
Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. 61 57
3598133 1986
3
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 6
22863007 2012
4
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 6
22282472 2012
5
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 6
20512146 2010
6
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 6
20036350 2010
7
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 6
19574260 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 with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. 57
7538263 1994
14
On Saraiva and Baraitser and Joubert syndrome: a review. 57
8362922 1993
15
Joubert syndrome associated with Leber amaurosis and multicystic kidneys. 57
8456821 1993
16
Joubert syndrome: a review. 57
1341417 1992
17
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. 57
6747764 1984
18
The Joubert syndrome associated with bilateral chorioretinal coloboma. 57
7439204 1980
19
Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. 57
5362879 1969
20
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. 61
29217415 2018
21
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. 61
23845172 2014
22
Reply to the letter: "nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis". 61
24063856 2014
23
Nationwide survey of Arima syndrome: a note of doubt. 61
24054506 2014
24
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? 61
21041048 2011
25
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. 61
20728296 2011
26
[A case of arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis]. 61
17184024 2006
27
[Arima syndrome(cerebro-oculo-hepato-renal syndrome)]. 61
11057224 2000
28
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 61
10508989 1999
29
Clinical nosologic and genetic aspects of Joubert and related syndromes. 61
10511339 1999
30
Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. 61
9742540 1998

Variations for Arima Syndrome

ClinVar genetic disease variations for Arima Syndrome:

6 (show top 50) (show all 680)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) Deletion Pathogenic 210612 rs797045437 4:15599055-15599058 4:15597432-15597435
2 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
3 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) SNV Pathogenic 210609 rs764719093 4:15558984-15558984 4:15557361-15557361
4 CEP290 NM_025114.4(CEP290):c.3176del (p.Ile1059fs) Deletion Pathogenic 217629 rs863225184 12:88487680-88487680 12:88093903-88093903
5 CC2D2A NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) SNV Pathogenic 217610 rs754221308 4:15538611-15538611 4:15536988-15536988
6 CEP290 NM_025114.4(CEP290):c.4964_4965GA[1] (p.Glu1656fs) Microsatellite Pathogenic 217632 rs756302731 12:88476853-88476854 12:88083076-88083077
7 CC2D2A NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) Deletion Pathogenic 217613 rs863225177 4:15534851-15534853 4:15533228-15533230
8 CEP290 NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter) SNV Pathogenic 217640 rs779262951 12:88462362-88462362 12:88068585-88068585
9 CC2D2A NM_001080522.2(CC2D2A):c.3289delG Deletion Pathogenic 56303 rs386833751 4:15569299-15569299 4:15567676-15567676
10 CC2D2A NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) SNV Pathogenic 217597 rs779823379 4:15581669-15581669 4:15580046-15580046
11 TMEM216 NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) SNV Pathogenic 217704 rs755459875 11:61165414-61165414 11:61397942-61397942
12 CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
13 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) SNV Pathogenic 217602 rs370880399 4:15565018-15565018 4:15563395-15563395
14 CC2D2A NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) SNV Pathogenic 217605 rs200904521 4:15556832-15556832 4:15555209-15555209
15 CEP290 NM_025114.4(CEP290):c.103-1G>T SNV Pathogenic 217634 rs863225188 12:88534811-88534811 12:88141034-88141034
16 CC2D2A NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) SNV Pathogenic 56304 rs386833752 4:15569352-15569352 4:15567729-15567729
17 CEP290 NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) SNV Pathogenic 156385 rs587783016 12:88482934-88482934 12:88089157-88089157
18 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
19 CC2D2A NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) Duplication Pathogenic 217599 rs863225171 4:15575920-15575921 4:15574297-15574298
20 CC2D2A NM_001080522.2(CC2D2A):c.3772-1G>T SNV Pathogenic 217600 rs863225172 4:15581590-15581590 4:15579967-15579967
21 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic 56384 rs11230683 11:61165269-61165269 11:61397797-61397797
22 CEP290 NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) SNV Pathogenic 217630 rs863225185 12:88524060-88524060 12:88130283-88130283
23 CC2D2A NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) Insertion Pathogenic 217611 rs762998472 4:15529183-15529184 4:15527560-15527561
24 CC2D2A NM_001080522.2(CC2D2A):c.1017+1G>A SNV Pathogenic 166801 rs200407856 4:15517628-15517628 4:15516005-15516005
25 CEP290 NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) Duplication Pathogenic 99850 rs62640570 12:88487680-88487681 12:88093903-88093904
26 CEP290 NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
27 CC2D2A NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) SNV Pathogenic 217615 rs863225178 4:15558972-15558972 4:15557349-15557349
28 TMEM216 NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) SNV Pathogenic 198 rs201108965 11:61161437-61161437 11:61393965-61393965
29 CC2D2A NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) SNV Pathogenic 745 rs118204053 4:15560806-15560806 4:15559183-15559183
30 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
31 CEP290 CEP290, 1-BP DEL, 4656A Deletion Pathogenic 1334
32 CEP290 NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) SNV Pathogenic 1335 rs62635288 12:88535064-88535064 12:88141287-88141287
33 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
34 CEP290 NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
35 CEP290 NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) SNV Pathogenic 217633 rs863225187 12:88449374-88449374 12:88055597-88055597
36 CEP290 NM_025114.4(CEP290):c.1623+1G>A SNV Pathogenic 217631 rs863225186 12:88512419-88512419 12:88118642-88118642
37 TMEM216 NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) SNV Pathogenic 217705 rs779526456 11:61161436-61161436 11:61393964-61393964
38 CC2D2A NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) SNV Pathogenic 217601 rs863225173 4:15565097-15565097 4:15563474-15563474
39 CC2D2A NM_001080522.2(CC2D2A):c.3975+4_3975+7del Microsatellite Pathogenic 217617 rs386833759 4:15581794-15581797 4:15580171-15580174
40 CEP290 NM_025114.4(CEP290):c.1666dup (p.Ile556fs) Duplication Pathogenic 217623 rs727503855 12:88512304-88512305 12:88118527-88118528
41 CC2D2A NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs) Deletion Pathogenic 217596 rs763735590 4:15581710-15581711 4:15580087-15580088
42 CC2D2A NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) SNV Pathogenic 217595 rs863225169 4:15569105-15569105 4:15567482-15567482
43 CEP290 NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) Microsatellite Pathogenic 56729 rs386834148 12:88514913-88514914 12:88121136-88121137
44 CC2D2A NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) Duplication Pathogenic 56309 rs386833757 4:15581590-15581591 4:15579967-15579968
45 CC2D2A NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) SNV Pathogenic 217607 rs201502401 4:15601322-15601322 4:15599699-15599699
46 CEP290 NM_025114.4(CEP290):c.4448_4451AGAA[1] (p.Lys1484fs) Microsatellite Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838
47 CEP290 NM_025114.4(CEP290):c.4384del (p.Glu1462fs) Deletion Pathogenic 217625 rs863225182 12:88479869-88479869 12:88086092-88086092
48 CC2D2A NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) SNV Pathogenic 217603 rs863225174 4:15602926-15602926 4:15601303-15601303
49 CEP290 NM_025114.4(CEP290):c.3185del (p.Leu1062fs) Deletion Pathogenic 217638 rs863225189 12:88487671-88487671 12:88093894-88093894
50 CEP290 NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) Deletion Pathogenic 217621 rs771454167 12:88456549-88456549 12:88062772-88062772

Expression for Arima Syndrome

Search GEO for disease gene expression data for Arima Syndrome.

Pathways for Arima Syndrome

GO Terms for Arima Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4 CEP290
2 photoreceptor connecting cilium GO:0032391 9.5 TMEM237 NPHP4 CEP290
3 cilium GO:0005929 9.5 TMEM237 TMEM231 TMEM216 TMEM138 NPHP4 CEP290
4 MKS complex GO:0036038 9.46 TMEM231 TMEM216 CEP290 CC2D2A
5 ciliary transition zone GO:0035869 9.1 TMEM237 TMEM231 TMEM216 NPHP4 CEP290 CC2D2A

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.46 TMEM216 NPHP4 CEP290 CC2D2A
2 cell projection organization GO:0030030 9.43 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
3 smoothened signaling pathway GO:0007224 9.4 TMEM231 CC2D2A
4 camera-type eye development GO:0043010 9.37 TMEM231 CC2D2A
5 non-motile cilium assembly GO:1905515 9.32 TMEM216 CC2D2A
6 protein localization to ciliary transition zone GO:1904491 9.26 NPHP4 CC2D2A
7 cilium assembly GO:0060271 9.17 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290

Sources for Arima Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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