MCID: OCL043
MIFTS: 19

Oculorenocerebellar Syndrome

Categories: Eye diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Oculorenocerebellar Syndrome

MalaCards integrated aliases for Oculorenocerebellar Syndrome:

Name: Oculorenocerebellar Syndrome 57 20 58 70
Orc Syndrome 57 20 58
Severe Oculo-Renal-Cerebellar Syndrome 58
Hunter-Jurenka-Thompson Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
severe oculo-renal-cerebellar syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
oculorenocerebellar syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases


Summaries for Oculorenocerebellar Syndrome

MalaCards based summary : Oculorenocerebellar Syndrome, is also known as orc syndrome. Affiliated tissues include eye, bone and cerebellum, and related phenotypes are optic atrophy and abnormality of retinal pigmentation

More information from OMIM: 257970

Related Diseases for Oculorenocerebellar Syndrome

Symptoms & Phenotypes for Oculorenocerebellar Syndrome

Human phenotypes related to Oculorenocerebellar Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
4 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
5 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 abnormal retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
7 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
8 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
9 choreoathetosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001266
10 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
11 hypotonia 31 hallmark (90%) HP:0001252
12 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
13 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
14 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
15 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
18 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
19 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
20 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
21 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
22 spastic diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001264
23 malar prominence 58 31 frequent (33%) Frequent (79-30%) HP:0010620
24 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
27 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
28 large earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009748
29 intellectual disability 31 HP:0001249
30 spasticity 58 Frequent (79-30%)
31 muscular hypotonia 58 Very frequent (99-80%)
32 nephropathy 31 HP:0000112
33 abnormality of metabolism/homeostasis 31 HP:0001939
34 retinal degeneration 31 HP:0000546
35 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
nephropathy
glomerulosclerosis

Eyes:
retinal degeneration
retinal vessel loss

Lab:
absent cerebellar granular layer

Neuro:
choreoathetosis
spastic diplegia
mental retardation

Misc:
death in late first or early second decade

Clinical features from OMIM®:

257970 (Updated 05-Apr-2021)

Drugs & Therapeutics for Oculorenocerebellar Syndrome

Search Clinical Trials , NIH Clinical Center for Oculorenocerebellar Syndrome

Genetic Tests for Oculorenocerebellar Syndrome

Anatomical Context for Oculorenocerebellar Syndrome

MalaCards organs/tissues related to Oculorenocerebellar Syndrome:

40
Eye, Bone, Cerebellum

Publications for Oculorenocerebellar Syndrome

Articles related to Oculorenocerebellar Syndrome:

# Title Authors PMID Year
1
Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome. 57
7091183 1982

Variations for Oculorenocerebellar Syndrome

Expression for Oculorenocerebellar Syndrome

Search GEO for disease gene expression data for Oculorenocerebellar Syndrome.

Pathways for Oculorenocerebellar Syndrome

GO Terms for Oculorenocerebellar Syndrome

Sources for Oculorenocerebellar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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