MCID: SPN388
MIFTS: 11

Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards integrated aliases for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

Name: Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
dopa-responsive rigidity


HPO:

31
spinocerebellar ataxia with rigidity and peripheral neuropathy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards based summary : Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy Affiliated tissues include skeletal muscle, and related phenotypes are spasticity and ataxia

More information from OMIM: 183050

Related Diseases for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Symptoms & Phenotypes for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Human phenotypes related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 ataxia 31 HP:0001251
3 dysarthria 31 HP:0001260
4 skeletal muscle atrophy 31 HP:0003202
5 decreased nerve conduction velocity 31 HP:0000762
6 rigidity 31 HP:0002063
7 fasciculations 31 HP:0002380
8 bradykinesia 31 HP:0002067
9 polyneuropathy 31 HP:0001271

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
dysarthria
rigidity
fasciculations
bradykinesia
more
Muscle Soft Tissue:
atrophy

Neurologic Peripheral Nervous System:
peripheral neuropathy
nerve conduction abnormalities

Clinical features from OMIM:

183050

Drugs & Therapeutics for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Genetic Tests for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Anatomical Context for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

MalaCards organs/tissues related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

40
Skeletal Muscle

Publications for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Articles related to Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy:

# Title Authors PMID Year
1
Late onset ataxia, rigidity, and peripheral neuropathy. A familial syndrome with variable therapeutic response to levodopa. 56
4340377 1972
2
[FAMILIAL CEREBELLAR ATROPHY WITH ASSOCIATION OF NIGERIAN AND SPINAL LESIONS]. 56
14119693 1964

Variations for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Expression for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Search GEO for disease gene expression data for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy.

Pathways for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

GO Terms for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

Sources for Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

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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