Aliases & Classifications for Arima Syndrome

MalaCards integrated aliases for Arima Syndrome:

Name: Arima Syndrome 58 38 74
Coloboma, Chorioretinal, with Cerebellar Vermis Aplasia 58
Joubert Syndrome with Bilateral Chorioretinal Coloboma 58
Cerebrooculohepatorenal Syndrome 58
Dekaban-Arima Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
arima syndrome:
Inheritance autosomal recessive inheritance


Summaries for Arima Syndrome

OMIM : 58 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)

MalaCards based summary : Arima Syndrome, also known as coloboma, chorioretinal, with cerebellar vermis aplasia, is related to joubert syndrome with oculorenal anomalies and retinoblastoma, and has symptoms including ataxia An important gene associated with Arima Syndrome is CEP290 (Centrosomal Protein 290). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, and related phenotypes are ptosis and nystagmus

Related Diseases for Arima Syndrome

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

# Related Disease Score Top Affiliating Genes
1 joubert syndrome with oculorenal anomalies 11.8
2 retinoblastoma 10.1
3 bilateral retinoblastoma 10.1
4 joubert syndrome 1 9.9
5 hepatorenal syndrome 9.9
6 nephronophthisis 9.9

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:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 ataxia 33 HP:0001251
4 muscular hypotonia 33 HP:0001252
5 global developmental delay 33 HP:0001263
6 hepatomegaly 33 HP:0002240
7 blindness 33 HP:0000618
8 intellectual disability, severe 33 HP:0010864
9 dyspnea 33 HP:0002094
10 hepatic steatosis 33 HP:0001397
11 hepatic fibrosis 33 HP:0001395
12 intellectual disability, progressive 33 HP:0006887
13 chorioretinal coloboma 33 HP:0000567
14 wide mouth 33 HP:0000154
15 polycystic kidney dysplasia 33 HP:0000113
16 nephronophthisis 33 HP:0000090
17 postaxial hand polydactyly 33 HP:0001162
18 postaxial foot polydactyly 33 HP:0001830
19 generalized hypotonia 33 HP:0001290
20 tachypnea 33 HP:0002789
21 heterotopia 33 HP:0002282
22 retinal dystrophy 33 HP:0000556
23 molar tooth sign on mri 33 HP:0002419
24 stage 5 chronic kidney disease 33 HP:0003774
25 aplasia/hypoplasia of the cerebellar vermis 33 HP:0006817
26 dilated fourth ventricle 33 HP:0002198
27 tubular atrophy 33 HP:0000092
28 tubulointerstitial fibrosis 33 HP:0005576
29 agenesis of cerebellar vermis 33 HP:0002335
30 hypoplasia of the brainstem 33 HP:0002365
31 brainstem dysplasia 33 HP:0002508
32 occipital meningocele 33 HP:0002436
33 renal corticomedullary cysts 33 HP:0000108
34 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
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
developmental delay
hypotonia
mental retardation, severe
enlarged fourth ventricle
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
2 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Arima Syndrome

Genetic Tests for Arima Syndrome

Anatomical Context for Arima Syndrome

MalaCards organs/tissues related to Arima Syndrome:

42
Kidney, Liver, Eye

Publications for Arima Syndrome

Articles related to Arima Syndrome:

# Title Authors Year
1
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. ( 29217415 )
2017
2
Nationwide survey of Arima syndrome: a note of doubt. ( 24054506 )
2014
3
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. ( 23845172 )
2014
4
Reply to the letter: "nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis". ( 24063856 )
2014
5
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? ( 21041048 )
2011
6
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. ( 20728296 )
2011
7
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. ( 15384098 )
2004
8
Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. ( 9742540 )
1998
9
Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. ( 3598133 )
1986

Variations for Arima Syndrome

Expression for Arima Syndrome

Search GEO for disease gene expression data for Arima Syndrome.

Pathways for Arima Syndrome

GO Terms for Arima Syndrome

Sources for Arima Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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