MCID: OLV006
MIFTS: 12

Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Categories: Cardiovascular diseases, Fetal diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

MalaCards integrated aliases for Olivopontocerebellar Atrophy Ii, Autosomal Recessive:

Name: Olivopontocerebellar Atrophy Ii, Autosomal Recessive 56
Opca Ii, Fickler-Winkler Type 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
olivopontocerebellar atrophy ii, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

MalaCards based summary : Olivopontocerebellar Atrophy Ii, Autosomal Recessive, is also known as opca ii, fickler-winkler type. Related phenotypes are ataxia and dysarthria

More information from OMIM: 258300

Related Diseases for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Diseases in the Olivopontocerebellar Atrophy family:

Olivopontocerebellar Atrophy V Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Symptoms & Phenotypes for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Human phenotypes related to Olivopontocerebellar Atrophy Ii, Autosomal Recessive:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dysarthria 31 HP:0001260
3 head tremor 31 HP:0002346
4 scanning speech 31 HP:0002168
5 olivopontocerebellar atrophy 31 HP:0002542
6 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dysarthria
head tremor
scanning speech
cerebellar ataxia
lack of involuntary movements
more
Misc:
onset of cerebellar signs about age 50 years

Skin:
albinism in one kindred

Radiology:
olivopontocerebellar atrophy on ct scan

Clinical features from OMIM:

258300

Drugs & Therapeutics for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Genetic Tests for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Anatomical Context for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Publications for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Articles related to Olivopontocerebellar Atrophy Ii, Autosomal Recessive:

# Title Authors PMID Year
1
Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage. 56
4838888 1974

Variations for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Expression for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Search GEO for disease gene expression data for Olivopontocerebellar Atrophy Ii, Autosomal Recessive.

Pathways for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

GO Terms for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Sources for Olivopontocerebellar Atrophy Ii, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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