MCID: SPS170
MIFTS: 17

Spastic Ataxia 2

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 2

MalaCards integrated aliases for Spastic Ataxia 2:

Name: Spastic Ataxia 2 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050941

Summaries for Spastic Ataxia 2

Disease Ontology : 12 A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has material basis in homozygous mutation in the KIF1C gene on chromosome 17p13.

MalaCards based summary : Spastic Ataxia 2 is related to spastic ataxia 2, autosomal recessive and spastic paraplegia 27, autosomal recessive. An important gene associated with Spastic Ataxia 2 is KIF1C (Kinesin Family Member 1C), and among its related pathways/superpathways is Selenocompound metabolism. Affiliated tissues include eye.

Related Diseases for Spastic Ataxia 2

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive Spastic Ataxia 1
Spastic Ataxia 2 Spastic Ataxia 3
Spastic Ataxia 4 Spastic Ataxia 5
Spastic Ataxia 7 Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia Autosomal Recessive Spastic Ataxia

Diseases related to Spastic Ataxia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 2, autosomal recessive 12.5
2 spastic paraplegia 27, autosomal recessive 9.9 MARS2 KIF1C ERLIN1
3 autosomal dominant non-syndromic intellectual disability 9 9.9 REEP1 KIF1A
4 neuropathy, hereditary sensory, type iic 9.8 REEP1 KIF1A
5 spastic paraplegia 6, autosomal dominant 9.8 REEP1 KIF1A
6 spastic paraplegia 8, autosomal dominant 9.8 REEP1 KIF1A
7 spastic paraplegia 42, autosomal dominant 9.8 REEP1 KIF1A
8 spastic paraplegia 10, autosomal dominant 9.7 REEP1 KIF1A
9 spastic ataxia 9.7 MARS2 KIF1C KIF1A
10 masa syndrome 9.7 REEP1 KIF1A
11 spastic paraplegia 30, autosomal recessive 9.6 REEP1 KIF1C KIF1A
12 spastic paraplegia 4, autosomal dominant 9.6 REEP1 KIF1A
13 spastic paraplegia 57, autosomal recessive 9.5 REEP1 MARS1 KIF1A
14 spastic paraplegia 45, autosomal recessive 9.5 NT5C2 MARS2 KIF1C ERLIN1
15 spasticity 9.4 REEP1 KIF1A
16 motor neuron disease 9.3 NT5C2 MARS1 KIF1C ERLIN1
17 paraplegia 9.2 REEP1 NT5C2 KIF1A ERLIN1
18 charcot-marie-tooth disease 9.1 REEP1 MARS2 MARS1 KIF1A
19 hereditary spastic paraplegia 8.6 REEP1 NT5C2 MARS1 KIF1C KIF1A ERLIN1
20 spastic ataxia 3 8.5 NT5C2 MARS2 MARS1 KIF1C ERLIN1 BICDL1

Graphical network of the top 20 diseases related to Spastic Ataxia 2:



Diseases related to Spastic Ataxia 2

Symptoms & Phenotypes for Spastic Ataxia 2

Drugs & Therapeutics for Spastic Ataxia 2

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 2

Genetic Tests for Spastic Ataxia 2

Anatomical Context for Spastic Ataxia 2

MalaCards organs/tissues related to Spastic Ataxia 2:

40
Eye

Publications for Spastic Ataxia 2

Articles related to Spastic Ataxia 2:

# Title Authors PMID Year
1
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. 61
30067756 2018

Variations for Spastic Ataxia 2

Expression for Spastic Ataxia 2

Search GEO for disease gene expression data for Spastic Ataxia 2.

Pathways for Spastic Ataxia 2

Pathways related to Spastic Ataxia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.85 MARS2 MARS1

GO Terms for Spastic Ataxia 2

Cellular components related to Spastic Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.96 KIF1C KIF1A
2 kinesin complex GO:0005871 8.62 KIF1C KIF1A

Biological processes related to Spastic Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.37 KIF1C KIF1A
2 tRNA aminoacylation for protein translation GO:0006418 9.32 MARS2 MARS1
3 cytoskeleton-dependent intracellular transport GO:0030705 9.26 KIF1C KIF1A
4 retrograde neuronal dense core vesicle transport GO:1990049 9.16 KIF1C KIF1A
5 anterograde neuronal dense core vesicle transport GO:1990048 8.96 KIF1C KIF1A
6 methionyl-tRNA aminoacylation GO:0006431 8.62 MARS2 MARS1

Molecular functions related to Spastic Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.37 KIF1C KIF1A
2 microtubule binding GO:0008017 9.33 REEP1 KIF1C KIF1A
3 microtubule motor activity GO:0003777 9.32 KIF1C KIF1A
4 aminoacyl-tRNA ligase activity GO:0004812 9.26 MARS2 MARS1
5 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.96 KIF1C KIF1A
6 methionine-tRNA ligase activity GO:0004825 8.62 MARS2 MARS1

Sources for Spastic Ataxia 2

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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