MCID: CNG534
MIFTS: 11

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 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.0
Orphanet 58 ORPHA512260

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

Symptoms & Phenotypes for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
3 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
4 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
5 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
6 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
7 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
8 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
11 infantile axial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0009062
12 febrile seizure (within the age range of 3 months to 6 years) 31 frequent (33%) HP:0002373
13 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
14 decreased liver function 58 31 occasional (7.5%) Occasional (29-5%) HP:0001410
15 cerebral cortical atrophy 58 Excluded (0%)
16 abnormal corpus callosum morphology 58 Excluded (0%)
17 febrile seizures 58 Frequent (79-30%)
18 neurodevelopmental abnormality 58 Frequent (79-30%)

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:

40
Liver

Publications for Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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