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, heart and liver, and related phenotypes are intellectual disability and ataxia

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:

(show top 50) (show all 547)
# 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 32.2 TMEM216 TMEM138 CEP290 CC2D2A
4 encephalocele 30.7 CEP290 CC2D2A
5 apraxia 29.9 TMEM216 CEP290 CC2D2A
6 cystic kidney disease 29.7 TMEM216 CEP290 CC2D2A
7 leber congenital amaurosis 29.3 ZNF423 TMEM216 CEP290 CC2D2A
8 joubert syndrome 14 29.3 TMEM237 TMEM231 TMEM216
9 joubert syndrome 4 29.1 TMEM237 TMEM216 CEP290 CC2D2A
10 visceral heterotaxy 29.1 TMEM216 CEP290 CC2D2A
11 meckel syndrome, type 5 28.4 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
12 bardet-biedl syndrome 28.4 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
13 coloboma of macula 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
14 meckel syndrome, type 1 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
15 fundus dystrophy 27.9 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
16 joubert syndrome 1 27.3 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290
17 nephronophthisis 26.9 ZNF423 TMEM237 TMEM231 TMEM216 TMEM138 CEP290
18 cor triatriatum 12.9
19 cor triatriatum sinister 12.8
20 cor triatriatum dexter 12.6
21 acute cor pulmonale 12.4
22 cor biloculare 12.4
23 bjornstad syndrome 12.1
24 pulmonary alveolar microlithiasis 11.5
25 medulloblastoma 11.5
26 pili torti, early-onset 11.3
27 aortic aneurysm, familial thoracic 1 11.2
28 beryllium disease 11.2
29 pulmonary embolism 11.1
30 pulmonary hypertension 10.9
31 heart septal defect 10.7
32 lung disease 10.7
33 bronchitis 10.7
34 atrial heart septal defect 10.6
35 pulmonary tuberculosis 10.6
36 mitral valve stenosis 10.6
37 congestive heart failure 10.6
38 respiratory failure 10.5
39 pulmonary disease, chronic obstructive 10.5
40 pulmonary hypertension, primary, 1 10.5
41 cyanosis, transient neonatal 10.5
42 pulmonary emphysema 10.4
43 heart disease 10.4
44 atrial fibrillation 10.4
45 cystic fibrosis 10.4
46 silicosis 10.4
47 fibrosis of extraocular muscles, congenital, 1 10.4
48 pulmonary edema 10.4
49 nephronophthisis 4 10.4
50 ciliopathy 10.4

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 63)
# 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 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
6 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
7 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
8 tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002789
9 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
10 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
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 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
16 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
17 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
23 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
24 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
25 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
28 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
29 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
30 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
31 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
32 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
33 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
34 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
35 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
36 hepatomegaly 31 HP:0002240
37 behavioral abnormality 58 Frequent (79-30%)
38 visual impairment 58 Frequent (79-30%)
39 hypoplasia of the brainstem 31 HP:0002365
40 intellectual disability, severe 31 HP:0010864
41 dyspnea 31 HP:0002094
42 generalized hypotonia 31 HP:0001290
43 malformation of the heart and great vessels 58 Occasional (29-5%)
44 hepatic steatosis 31 HP:0001397
45 hepatic fibrosis 31 HP:0001395
46 intellectual disability, progressive 31 HP:0006887
47 wide mouth 31 HP:0000154
48 agenesis of cerebellar vermis 31 HP:0002335
49 polycystic kidney dysplasia 31 HP:0000113
50 nephronophthisis 31 HP:0000090

Symptoms via clinical synopsis from OMIM:

56
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
developmental delay
hypotonia
more
Genitourinary Kidneys:
renal insufficiency
tubular atrophy
polycystic kidneys
interstitial fibrosis
corticomedullary cysts
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):

(show all 22)
# 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 Anti-Inflammatory Agents Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Anti-Inflammatory Agents, Non-Steroidal Phase 4
6 Neurotransmitter Agents Phase 4
7 Vasoconstrictor Agents Phase 4
8 Cyclooxygenase Inhibitors Phase 4
9 Serotonin Agents Phase 4
10 Serotonin 5-HT1 Receptor Agonists Phase 4
11 Antirheumatic Agents Phase 4
12 Serotonin Receptor Agonists Phase 4
13 Analgesics Phase 4
14
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
15
Fluorouracil Approved Phase 1 51-21-8 3385
16
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
17 Protein Kinase Inhibitors Phase 1
18 Immunologic Factors Phase 1
19 Immunosuppressive Agents Phase 1
20 Antimetabolites Phase 1
21
Metronidazole Approved 443-48-1 4173
22 Cola

Interventional clinical trials:


# 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, Heart, Liver, Brain, Lung, Cerebellum, Eye

Publications for Arima Syndrome

Articles related to Arima Syndrome:

(show all 31)
# 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. 61 56
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
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 61
10508989 1999
30
Clinical nosologic and genetic aspects of Joubert and related syndromes. 61
10511339 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:

# 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:

# 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 MKS complex GO:0036038 9.26 TMEM231 TMEM216 CEP290 CC2D2A
4 ciliary transition zone GO:0035869 9.02 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A

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

# 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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