Aliases & Classifications for Arima Syndrome

MalaCards integrated aliases for Arima Syndrome:

Name: Arima Syndrome 57 37 72
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


Classifications:



External Ids:

OMIM 57 243910
KEGG 37 H01811
MedGen 42 C1855675
UMLS 72 C1855675

Summaries for Arima Syndrome

KEGG : 37
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.

MalaCards based summary : Arima Syndrome, also known as coloboma, chorioretinal, with cerebellar vermis aplasia, is related to joubert syndrome with oculorenal anomalies and joubert syndrome 1, and has symptoms including ataxia An important gene associated with Arima Syndrome is CEP290 (Centrosomal Protein 290). Affiliated tissues include kidney, brain and liver, and related phenotypes are ptosis and nystagmus

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)

Related Diseases for Arima Syndrome

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

(showing 22, show less)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with oculorenal anomalies 12.0
2 joubert syndrome 1 10.2
3 ptosis 10.2
4 hepatorenal syndrome 10.2
5 retinoblastoma 10.1
6 familial retinoblastoma 10.1
7 bilateral retinoblastoma 10.1
8 uremia 10.1
9 pathologic nystagmus 10.1
10 telecanthus 10.0
11 varicose veins 10.0
12 dandy-walker syndrome 10.0
13 esophageal varix 10.0
14 pancytopenia 10.0
15 nephronophthisis 10.0
16 cystic kidney disease 10.0
17 end stage renal failure 10.0
18 fatty liver disease 10.0
19 dandy-walker complex 10.0
20 pachygyria 10.0
21 hypotonia 10.0
22 cerebral malformation 10.0

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:

32 (showing 35, show less)
# 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 generalized hypotonia 32 HP:0001290
11 hepatic steatosis 32 HP:0001397
12 hepatic fibrosis 32 HP:0001395
13 intellectual disability, progressive 32 HP:0006887
14 chorioretinal coloboma 32 HP:0000567
15 wide mouth 32 HP:0000154
16 polycystic kidney dysplasia 32 HP:0000113
17 nephronophthisis 32 HP:0000090
18 postaxial hand polydactyly 32 HP:0001162
19 postaxial foot polydactyly 32 HP:0001830
20 tachypnea 32 HP:0002789
21 retinal dystrophy 32 HP:0000556
22 molar tooth sign on mri 32 HP:0002419
23 stage 5 chronic kidney disease 32 HP:0003774
24 aplasia/hypoplasia of the cerebellar vermis 32 HP:0006817
25 dilated fourth ventricle 32 HP:0002198
26 tubular atrophy 32 HP:0000092
27 tubulointerstitial fibrosis 32 HP:0005576
28 agenesis of cerebellar vermis 32 HP:0002335
29 hypoplasia of the brainstem 32 HP:0002365
30 brainstem dysplasia 32 HP:0002508
31 gray matter heterotopia 32 HP:0002282
32 renal corticomedullary cysts 32 HP:0000108
33 psychomotor retardation 32 HP:0025356
34 undetectable electroretinogram 32 HP:0000550
35 occipital meningocele 32 HP:0002436

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
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

Search Clinical Trials , 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, Brain, Liver, Cerebellum, Eye

Publications for Arima Syndrome

Articles related to Arima Syndrome:

(showing 20, show less)
# Title Authors PMID Year
1
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. 38 8
15384098 2004
2
Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. 38 8
3598133 1986
3
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. 8
7538263 1994
4
On Saraiva and Baraitser and Joubert syndrome: a review. 8
8362922 1993
5
Joubert syndrome associated with Leber amaurosis and multicystic kidneys. 8
8456821 1993
6
Joubert syndrome: a review. 8
1341417 1992
7
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. 8
6747764 1984
8
The Joubert syndrome associated with bilateral chorioretinal coloboma. 8
7439204 1980
9
Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. 8
5362879 1969
10
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. 38
29217415 2018
11
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. 38
23845172 2014
12
Nationwide survey of Arima syndrome: a note of doubt. 38
24054506 2014
13
Reply to the letter: "nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis". 38
24063856 2014
14
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? 38
21041048 2011
15
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. 38
20728296 2011
16
[A case of arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis]. 38
17184024 2006
17
[Arima syndrome(cerebro-oculo-hepato-renal syndrome)]. 38
11057224 2000
18
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 38
10508989 1999
19
Clinical nosologic and genetic aspects of Joubert and related syndromes. 38
10511339 1999
20
Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. 38
9742540 1998

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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