MCID: CNG534
MIFTS: 15

Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

MalaCards integrated aliases for Congenital Cerebellar Ataxia Due to Rnu12 Mutation:

Name: Congenital Cerebellar Ataxia Due to Rnu12 Mutation 60

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

MalaCards based summary : Congenital Cerebellar Ataxia Due to Rnu12 Mutation An important gene associated with Congenital Cerebellar Ataxia Due to Rnu12 Mutation is RNU12 (RNA, U12 Small Nuclear). Affiliated tissues include liver, and related phenotypes are dysarthria and gait ataxia

Related Diseases for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Symptoms & Phenotypes for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Human phenotypes related to Congenital Cerebellar Ataxia Due to Rnu12 Mutation:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
2 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
3 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
4 poor fine motor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0007010
5 febrile seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002373
6 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
7 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
8 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
9 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
10 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
11 broad-based gait 60 33 frequent (33%) Frequent (79-30%) HP:0002136
12 infantile axial hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0009062
13 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
14 decreased liver function 60 33 occasional (7.5%) Occasional (29-5%) HP:0001410
15 cerebral cortical atrophy 60 Excluded (0%)
16 neurodevelopmental abnormality 60 Frequent (79-30%)
17 abnormality of the corpus callosum 60 Excluded (0%)

Drugs & Therapeutics for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Search Clinical Trials , NIH Clinical Center for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Genetic Tests for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Anatomical Context for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

MalaCards organs/tissues related to Congenital Cerebellar Ataxia Due to Rnu12 Mutation:

42
Liver

Publications for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Articles related to Congenital Cerebellar Ataxia Due to Rnu12 Mutation:

# Title Authors Year
1
A Case of Acrorenal Syndrome. ( 30087221 )
2018

Variations for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Expression for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Search GEO for disease gene expression data for Congenital Cerebellar Ataxia Due to Rnu12 Mutation.

Pathways for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

GO Terms for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Sources for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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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