Aliases & Classifications for Arima Syndrome

MalaCards integrated aliases for Arima Syndrome:

Name: Arima Syndrome 57 37 73
Coloboma, Chorioretinal, with Cerebellar Vermis Aplasia 57
Joubert Syndrome with Bilateral Chorioretinal Coloboma 57
Cerebrooculohepatorenal Syndrome 57
Dekaban-Arima Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
arima syndrome:
Inheritance autosomal recessive inheritance


Summaries for Arima Syndrome

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 (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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Arima Syndrome:

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

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 Completed 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:

41
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 )
2018
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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