ARIMA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA
DEKABAN-ARIMA SYNDROME
JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA
CEREBROOCULOHEPATORENAL SYNDROME
Number of Symptoms 37
OrphanetNr:
OMIM Id: 243910
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
(HPO:0000090) Nephronophthisis 42 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0000092) Tubular atrophy 28 / 7739
5
(HPO:0000154) Wide mouth 137 / 7739
6
(HPO:0000550) Undetectable electroretinogram 25 / 7739
7
(HPO:0000567) Chorioretinal coloboma 26 / 7739
8
(HPO:0000556) Retinal dystrophy 65 / 7739
9
(HPO:0000639) Nystagmus 555 / 7739
10
(HPO:0000508) Ptosis 459 / 7739
11
(HPO:0000496) Abnormality of eye movement 79 / 7739
12
(HPO:0000618) Blindness 124 / 7739
13
(HPO:0001251) Ataxia 413 / 7739
14
(HPO:0010864) Intellectual disability, severe 120 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0002436) Occipital meningocele 4 / 7739
17
(HPO:0100259) Postaxial polydactyly 85 / 7739
18
(HPO:0002240) Hepatomegaly 467 / 7739
19
(HPO:0001395) Hepatic fibrosis 67 / 7739
20
(HPO:0001397) Hepatic steatosis 75 / 7739
21
(HPO:0001252) Muscular hypotonia 990 / 7739
22
(HPO:0010547) Muscle flaccidity 466 / 7739
23
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
(HPO:0001324) Muscle weakness 859 / 7739
25
(OMIM) End-stage renal disease develops in childhood 1 / 7739
26
(HPO:0002508) Brainstem dysplasia 5 / 7739
27
(HPO:0002419) Molar tooth sign on MRI 27 / 7739
28
(OMIM) Corticomedullary cysts 4 / 7739
29
(OMIM) Neonatal tachypnea 1 / 7739
30
(OMIM) Vision impairment from infancy 1 / 7739
31
(OMIM) Neonatal dyspnea 1 / 7739
32
(OMIM) Interstitial fibrosis 24 / 7739
33
(HPO:0002198) Dilated fourth ventricle 12 / 7739
34
(OMIM) Cerebellar heterotopia 1 / 7739
35
(OMIM) Hypoplasia and displacement of the corticospinal fibers within the brainstem 1 / 7739
36
(HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 15 / 7739
37
(OMIM) Thickened tubular basement membrane 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Dekaban (1969) reported 2 sibs with congenital retinal blindness (Leber), polycystic kidneys, and maldevelopment of the brain, including agenesis of the cerebellar vermis. Arima et al. (1971) reported 2 sibs and an unrelated girl with blindness, severe psychomotor ...