SPAX2
MCID: SPS142
MIFTS: 24

Spastic Ataxia 2, Autosomal Recessive (SPAX2)

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

Aliases & Classifications for Spastic Ataxia 2, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 2, Autosomal Recessive:

Name: Spastic Ataxia 2, Autosomal Recessive 57 75
Ataxia, Spastic, 2, Autosomal Recessive 29 6 73
Spax2 57 59 75
Autosomal Recessive Spastic Paraplegia Type 58 59
Autosomal Recessive Spastic Ataxia Type 2 59
Ataxia, Spastic 2, Autosomal Recessive 13
Spg58 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 58
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
patients remain ambulatory
onset in teenage years


HPO:

32
spastic ataxia 2, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Ataxia 2, Autosomal Recessive

OMIM : 57 Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). (611302)

MalaCards based summary : Spastic Ataxia 2, Autosomal Recessive, is also known as ataxia, spastic, 2, autosomal recessive, and has symptoms including tremor, cerebellar ataxia and muscular fasciculation. An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C). Affiliated tissues include eye, and related phenotypes are spasticity and dysarthria

UniProtKB/Swiss-Prot : 75 Spastic ataxia 2, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected.

Related Diseases for Spastic Ataxia 2, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 2, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
dysmetria
fasciculations
more
Muscle Soft Tissue:
distal muscle atrophy

Head And Neck Eyes:
horizontal nystagmus

Head And Neck Head:
head titubation


Clinical features from OMIM:

611302

Human phenotypes related to Spastic Ataxia 2, Autosomal Recessive:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 hyperreflexia 59 32 Occasional (29-5%) HP:0001347
4 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
5 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
10 peripheral neuropathy 59 32 very rare (1%) Very rare (<4-1%) HP:0009830
11 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
12 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
13 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
14 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
15 reduced visual acuity 59 32 very rare (1%) Very rare (<4-1%) HP:0007663
16 fasciculations 59 32 hallmark (90%) Very frequent (99-80%) HP:0002380
17 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
18 horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000666
19 cerebellar atrophy 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001272
20 torticollis 59 32 very rare (1%) Very rare (<4-1%) HP:0000473
21 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
22 peripheral demyelination 59 32 frequent (33%) Frequent (79-30%) HP:0011096
23 cerebral atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0002059
24 unsteady gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002317
25 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
26 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
27 spastic ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002497
28 abnormality of the cerebral white matter 59 32 hallmark (90%) Very frequent (99-80%) HP:0002500
29 tip-toe gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0030051
30 titubation 59 32 frequent (33%) Frequent (79-30%) HP:0030187
31 erratic myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0025357
32 tremor 59 Frequent (79-30%)
33 abnormal pyramidal signs 59 Occasional (29-5%)
34 head titubation 32 HP:0002599

UMLS symptoms related to Spastic Ataxia 2, Autosomal Recessive:


tremor, cerebellar ataxia, muscular fasciculation, head titubation

Drugs & Therapeutics for Spastic Ataxia 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 2, Autosomal Recessive

Genetic Tests for Spastic Ataxia 2, Autosomal Recessive

Genetic tests related to Spastic Ataxia 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 2, Autosomal Recessive 29 KIF1C

Anatomical Context for Spastic Ataxia 2, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 2, Autosomal Recessive:

41
Eye

Publications for Spastic Ataxia 2, Autosomal Recessive

Variations for Spastic Ataxia 2, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 KIF1C p.Arg169Trp VAR_070937 rs587777198

ClinVar genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:

6 (show top 50) (show all 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1C NM_006612.5(KIF1C): c.2191C> T (p.Arg731Ter) single nucleotide variant Pathogenic rs587777197 GRCh37 Chromosome 17, 4925567: 4925567
2 KIF1C NM_006612.5(KIF1C): c.2191C> T (p.Arg731Ter) single nucleotide variant Pathogenic rs587777197 GRCh38 Chromosome 17, 5022272: 5022272
3 KIF1C NM_006612.5(KIF1C): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic rs587777198 GRCh37 Chromosome 17, 4905834: 4905834
4 KIF1C NM_006612.5(KIF1C): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic rs587777198 GRCh38 Chromosome 17, 5002539: 5002539
5 KIF1C NM_006612.5(KIF1C): c.183G> A (p.Ser61=) single nucleotide variant Pathogenic rs886041035 GRCh38 Chromosome 17, 5000848: 5000848
6 KIF1C NM_006612.5(KIF1C): c.183G> A (p.Ser61=) single nucleotide variant Pathogenic rs886041035 GRCh37 Chromosome 17, 4904143: 4904143
7 KIF1C NC_000017.10 deletion Pathogenic GRCh37 Chromosome 17, 4907452: 4926045
8 KIF1C NM_006612.5(KIF1C): c.2099C> T (p.Pro700Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148934699 GRCh37 Chromosome 17, 4925475: 4925475
9 KIF1C NM_006612.5(KIF1C): c.2099C> T (p.Pro700Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148934699 GRCh38 Chromosome 17, 5022180: 5022180
10 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh37 Chromosome 17, 4926868: 4926868
11 KIF1C NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202232792 GRCh38 Chromosome 17, 5023573: 5023573
12 KIF1C NM_006612.5(KIF1C): c.2478delA (p.Ala828Argfs) deletion Pathogenic rs1131690773 GRCh38 Chromosome 17, 5022559: 5022559
13 KIF1C NM_006612.5(KIF1C): c.2478delA (p.Ala828Argfs) deletion Pathogenic rs1131690773 GRCh37 Chromosome 17, 4925854: 4925854
14 KIF1C NM_006612.5(KIF1C): c.1293G> A (p.Thr431=) single nucleotide variant Benign rs35919356 GRCh37 Chromosome 17, 4910337: 4910337
15 KIF1C NM_006612.5(KIF1C): c.1293G> A (p.Thr431=) single nucleotide variant Benign rs35919356 GRCh38 Chromosome 17, 5007042: 5007042
16 KIF1C NM_006612.5(KIF1C): c.2298C> T (p.His766=) single nucleotide variant Benign rs73345356 GRCh37 Chromosome 17, 4925674: 4925674
17 KIF1C NM_006612.5(KIF1C): c.2298C> T (p.His766=) single nucleotide variant Benign rs73345356 GRCh38 Chromosome 17, 5022379: 5022379
18 KIF1C NM_006612.5(KIF1C): c.1656A> G (p.Pro552=) single nucleotide variant Benign rs57144955 GRCh37 Chromosome 17, 4918122: 4918122
19 KIF1C NM_006612.5(KIF1C): c.1656A> G (p.Pro552=) single nucleotide variant Benign rs57144955 GRCh38 Chromosome 17, 5014827: 5014827
20 KIF1C NM_006612.5(KIF1C): c.2105C> T (p.Thr702Ile) single nucleotide variant Benign/Likely benign rs138935423 GRCh37 Chromosome 17, 4925481: 4925481
21 KIF1C NM_006612.5(KIF1C): c.2105C> T (p.Thr702Ile) single nucleotide variant Benign/Likely benign rs138935423 GRCh38 Chromosome 17, 5022186: 5022186
22 KIF1C NM_006612.5(KIF1C): c.3071G> A (p.Arg1024Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141225452 GRCh37 Chromosome 17, 4927205: 4927205
23 KIF1C NM_006612.5(KIF1C): c.3071G> A (p.Arg1024Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141225452 GRCh38 Chromosome 17, 5023910: 5023910
24 KIF1C NM_006612.5(KIF1C): c.1751-7T> A single nucleotide variant Benign rs148404628 GRCh37 Chromosome 17, 4923780: 4923780
25 KIF1C NM_006612.5(KIF1C): c.1751-7T> A single nucleotide variant Benign rs148404628 GRCh38 Chromosome 17, 5020485: 5020485
26 KIF1C NM_006612.5(KIF1C): c.1815G> A (p.Leu605=) single nucleotide variant Benign/Likely benign rs78356534 GRCh37 Chromosome 17, 4923851: 4923851
27 KIF1C NM_006612.5(KIF1C): c.1815G> A (p.Leu605=) single nucleotide variant Benign/Likely benign rs78356534 GRCh38 Chromosome 17, 5020556: 5020556
28 KIF1C NM_006612.5(KIF1C): c.2726C> A (p.Pro909Gln) single nucleotide variant Benign rs78970955 GRCh37 Chromosome 17, 4926860: 4926860
29 KIF1C NM_006612.5(KIF1C): c.2726C> A (p.Pro909Gln) single nucleotide variant Benign rs78970955 GRCh38 Chromosome 17, 5023565: 5023565
30 KIF1C NM_006612.5(KIF1C): c.1111G> A (p.Ala371Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142056835 GRCh37 Chromosome 17, 4908241: 4908241
31 KIF1C NM_006612.5(KIF1C): c.1111G> A (p.Ala371Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142056835 GRCh38 Chromosome 17, 5004946: 5004946
32 KIF1C NM_006612.5(KIF1C): c.2299G> A (p.Gly767Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs118037269 GRCh38 Chromosome 17, 5022380: 5022380
33 KIF1C NM_006612.5(KIF1C): c.2299G> A (p.Gly767Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs118037269 GRCh37 Chromosome 17, 4925675: 4925675
34 KIF1C NM_006612.5(KIF1C): c.866A> C (p.Gln289Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146872023 GRCh37 Chromosome 17, 4907294: 4907294
35 KIF1C NM_006612.5(KIF1C): c.866A> C (p.Gln289Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146872023 GRCh38 Chromosome 17, 5003999: 5003999
36 KIF1C NM_006612.5(KIF1C): c.1165+4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs192489748 GRCh37 Chromosome 17, 4908299: 4908299
37 KIF1C NM_006612.5(KIF1C): c.1165+4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs192489748 GRCh38 Chromosome 17, 5005004: 5005004
38 KIF1C NM_006612.5(KIF1C): c.720+20dup duplication Benign GRCh37 Chromosome 17, 4906157: 4906157
39 KIF1C NM_006612.5(KIF1C): c.720+20dup duplication Benign GRCh38 Chromosome 17, 5002862: 5002862
40 KIF1C NM_006612.5(KIF1C): c.2523G> C (p.Thr841=) single nucleotide variant Likely benign rs747321053 GRCh37 Chromosome 17, 4925899: 4925899
41 KIF1C NM_006612.5(KIF1C): c.2523G> C (p.Thr841=) single nucleotide variant Likely benign rs747321053 GRCh38 Chromosome 17, 5022604: 5022604
42 KIF1C NM_006612.5(KIF1C): c.1136C> G (p.Ala379Gly) single nucleotide variant Likely benign rs79290524 GRCh38 Chromosome 17, 5004971: 5004971
43 KIF1C NM_006612.5(KIF1C): c.1136C> G (p.Ala379Gly) single nucleotide variant Likely benign rs79290524 GRCh37 Chromosome 17, 4908266: 4908266
44 KIF1C NM_006612.5(KIF1C): c.2711C> G (p.Pro904Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 5023550: 5023550
45 KIF1C NM_006612.5(KIF1C): c.2711C> G (p.Pro904Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 4926845: 4926845
46 KIF1C NM_006612.5(KIF1C): c.2748_2749delACinsGA (p.Pro917Thr) indel Uncertain significance GRCh37 Chromosome 17, 4926882: 4926883
47 KIF1C NM_006612.5(KIF1C): c.2748_2749delACinsGA (p.Pro917Thr) indel Uncertain significance GRCh38 Chromosome 17, 5023587: 5023588
48 KIF1C NM_006612.5(KIF1C): c.2987G> A (p.Ser996Asn) single nucleotide variant Benign rs115332491 GRCh37 Chromosome 17, 4927121: 4927121
49 KIF1C NM_006612.5(KIF1C): c.2987G> A (p.Ser996Asn) single nucleotide variant Benign rs115332491 GRCh38 Chromosome 17, 5023826: 5023826
50 KIF1C NM_006612.5(KIF1C): c.18G> A (p.Val6=) single nucleotide variant Likely benign rs148361794 GRCh37 Chromosome 17, 4903559: 4903559

Expression for Spastic Ataxia 2, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 2, Autosomal Recessive.

Pathways for Spastic Ataxia 2, Autosomal Recessive

GO Terms for Spastic Ataxia 2, Autosomal Recessive

Sources for Spastic Ataxia 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....