MCID: OLV006
MIFTS: 12

Olivopontocerebellar Atrophy Ii, Autosomal Recessive

Categories: Cardiovascular diseases, Fetal diseases, Mental 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 58
Opca Ii, Fickler-Winkler Type 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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

Description 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 dysarthria 33 HP:0001260
3 head tremor 33 HP:0002346
4 scanning speech 33 HP:0002168
5 olivopontocerebellar atrophy 33 HP:0002542
6 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
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

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
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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