SPAX2
MCID: SPS142
MIFTS: 32

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 72
Ataxia, Spastic, 2, Autosomal Recessive 29 6 70
Spax2 57 58 72
Ataxia, Spastic 2, Autosomal Recessive 13
Autosomal Spastic Paraplegia Type 58 58
Autosomal Spastic Ataxia Type 2 58
Spg58 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
patients remain ambulatory
onset in teenage years


HPO:

31
spastic ataxia 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
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) (Updated 05-Apr-2021)

MalaCards based summary : Spastic Ataxia 2, Autosomal Recessive, also known as ataxia, spastic, 2, autosomal recessive, is related to spastic ataxia and aceruloplasminemia, and has symptoms including tremor, head titubation and muscular fasciculation. An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C). Related phenotypes are dysarthria and hypodontia

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Spastic Ataxia 2, Autosomal Recessive:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
3 fasciculations 58 31 hallmark (90%) Very frequent (99-80%) HP:0002380
4 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
5 abnormality of the cerebral white matter 58 31 hallmark (90%) Very frequent (99-80%) HP:0002500
6 spastic ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002497
7 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
8 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
9 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
10 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
14 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
15 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
16 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
17 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
18 peripheral demyelination 58 31 frequent (33%) Frequent (79-30%) HP:0011096
19 titubation 58 31 frequent (33%) Frequent (79-30%) HP:0030187
20 erratic myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0025357
21 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
22 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
23 cerebellar atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001272
24 unsteady gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002317
25 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
26 tip-toe gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0030051
27 reduced visual acuity 58 31 very rare (1%) Very rare (<4-1%) HP:0007663
28 peripheral neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0009830
29 torticollis 58 31 very rare (1%) Very rare (<4-1%) HP:0000473
30 cerebral atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002059
31 hyperreflexia 58 31 Occasional (29-5%) HP:0001347
32 abnormal pyramidal sign 58 Occasional (29-5%)
33 tremor 58 Frequent (79-30%)
34 head titubation 31 HP:0002599

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dysmetria
fasciculations
more
Head And Neck Head:
head titubation

Head And Neck Eyes:
horizontal nystagmus

Muscle Soft Tissue:
distal muscle atrophy

Clinical features from OMIM®:

611302 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Ataxia 2, Autosomal Recessive:


tremor; head titubation; muscular fasciculation; cerebellar ataxia

GenomeRNAi Phenotypes related to Spastic Ataxia 2, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 8.62 INCA1 KIF1C

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

Publications for Spastic Ataxia 2, Autosomal Recessive

Articles related to Spastic Ataxia 2, Autosomal Recessive:

# Title Authors PMID Year
1
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. 6 57 61
24319291 2014
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 57
24482476 2014
3
A novel locus for autosomal recessive spastic ataxia on chromosome 17p. 57 6
17273843 2007
4
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 6
28687974 2017
5
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
6
Motor protein mutations cause a new form of hereditary spastic paraplegia. 6
24808017 2014
7
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. 61
30067756 2018

Variations for Spastic Ataxia 2, Autosomal Recessive

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

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF1C NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) SNV Pathogenic 101066 rs587777197 GRCh37: 17:4925567-4925567
GRCh38: 17:5022272-5022272
2 INCA1 , KIF1C NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp) SNV Pathogenic 101067 rs587777198 GRCh37: 17:4905834-4905834
GRCh38: 17:5002539-5002539
3 INCA1 , KIF1C NM_006612.6(KIF1C):c.183G>A (p.Ser61=) SNV Pathogenic 101068 rs886041035 GRCh37: 17:4904143-4904143
GRCh38: 17:5000848-5000848
4 KIF1C NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del Deletion Pathogenic 101069 GRCh37: 17:4907452-4926045
GRCh38:
5 KIF1C NM_006612.6(KIF1C):c.2478del (p.Ala828fs) Deletion Pathogenic 265862 rs1131690773 GRCh37: 17:4925854-4925854
GRCh38: 17:5022559-5022559
6 INCA1 , KIF1C NM_006612.6(KIF1C):c.760C>T (p.Arg254Ter) SNV Pathogenic 1029057 GRCh37: 17:4906946-4906946
GRCh38: 17:5003651-5003651
7 INCA1 , KIF1C NM_006612.6(KIF1C):c.1039C>T (p.Gln347Ter) SNV Pathogenic 1032467 GRCh37: 17:4908169-4908169
GRCh38: 17:5004874-5004874
8 INCA1 , KIF1C NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys) SNV Likely pathogenic 423907 rs1064796693 GRCh37: 17:4906063-4906063
GRCh38: 17:5002768-5002768
9 INCA1 , KIF1C NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) SNV Likely pathogenic 872583 GRCh37: 17:4905856-4905856
GRCh38: 17:5002561-5002561
10 KIF1C NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) SNV Conflicting interpretations of pathogenicity 209166 rs148934699 GRCh37: 17:4925475-4925475
GRCh38: 17:5022180-5022180
11 KIF1C NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) SNV Conflicting interpretations of pathogenicity 209167 rs202232792 GRCh37: 17:4926868-4926868
GRCh38: 17:5023573-5023573
12 KIF1C NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys) SNV Uncertain significance 570542 rs62072492 GRCh37: 17:4927222-4927222
GRCh38: 17:5023927-5023927
13 INCA1 , KIF1C NM_006612.6(KIF1C):c.798+5G>A SNV Uncertain significance 835940 GRCh37: 17:4906989-4906989
GRCh38: 17:5003694-5003694
14 KIF1C NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met) SNV Uncertain significance 841377 GRCh37: 17:4910575-4910575
GRCh38: 17:5007280-5007280
15 KIF1C NM_006612.6(KIF1C):c.3302del (p.Ala1101fs) Deletion Uncertain significance 845903 GRCh37: 17:4927436-4927436
GRCh38: 17:5024141-5024141
16 KIF1C NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys) SNV Uncertain significance 967691 GRCh37: 17:4927426-4927426
GRCh38: 17:5024131-5024131
17 KIF1C NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) SNV Uncertain significance 424676 rs146628704 GRCh37: 17:4925967-4925967
GRCh38: 17:5022672-5022672
18 INCA1 , KIF1C NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser) SNV Uncertain significance 536734 rs1368090910 GRCh37: 17:4904076-4904076
GRCh38: 17:5000781-5000781
19 KIF1C NM_006612.6(KIF1C):c.1302G>C (p.Gln434His) SNV Uncertain significance 958342 GRCh37: 17:4910346-4910346
GRCh38: 17:5007051-5007051
20 KIF1C NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg) SNV Uncertain significance 964685 GRCh37: 17:4925753-4925753
GRCh38: 17:5022458-5022458
21 INCA1 , KIF1C NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp) SNV Uncertain significance 536732 rs756071061 GRCh37: 17:4903578-4903578
GRCh38: 17:5000283-5000283
22 KIF1C NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys) SNV Uncertain significance 536733 rs539082919 GRCh37: 17:4925861-4925861
GRCh38: 17:5022566-5022566
23 KIF1C NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys) SNV Uncertain significance 536735 rs758990694 GRCh37: 17:4926853-4926853
GRCh38: 17:5023558-5023558
24 INCA1 , KIF1C NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu) SNV Uncertain significance 565364 rs747424547 GRCh37: 17:4903555-4903555
GRCh38: 17:5000260-5000260
25 KIF1C NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys) SNV Uncertain significance 571325 rs751072487 GRCh37: 17:4926835-4926835
GRCh38: 17:5023540-5023540
26 KIF1C NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile) SNV Uncertain significance 577183 rs1567722733 GRCh37: 17:4910367-4910367
GRCh38: 17:5007072-5007072
27 KIF1C NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr) SNV Uncertain significance 577751 rs372031774 GRCh37: 17:4927085-4927085
GRCh38: 17:5023790-5023790
28 KIF1C NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met) SNV Uncertain significance 578726 rs780729030 GRCh37: 17:4925898-4925898
GRCh38: 17:5022603-5022603
29 KIF1C NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr) Indel Uncertain significance 468855 rs1555571945 GRCh37: 17:4926882-4926883
GRCh38: 17:5023587-5023588
30 INCA1 , KIF1C NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys) SNV Uncertain significance 567068 rs141189136 GRCh37: 17:4906099-4906099
GRCh38: 17:5002804-5002804
31 KIF1C NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg) SNV Uncertain significance 468854 rs1395728872 GRCh37: 17:4926845-4926845
GRCh38: 17:5023550-5023550
32 KIF1C NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu) SNV Uncertain significance 468857 rs369620316 GRCh37: 17:4927196-4927196
GRCh38: 17:5023901-5023901
33 overlap with 11 genes NC_000017.11:g.(?_4898726)_(5024161_?)dup Duplication Uncertain significance 831955 GRCh37: 17:4802021-4927456
GRCh38:
34 KIF1C NM_006612.6(KIF1C):c.1571+5C>T SNV Uncertain significance 838308 GRCh37: 17:4917032-4917032
GRCh38: 17:5013737-5013737
35 INCA1 , KIF1C NM_006612.6(KIF1C):c.1165+3C>T SNV Uncertain significance 845618 GRCh37: 17:4908298-4908298
GRCh38: 17:5005003-5005003
36 INCA1 , KIF1C NM_006612.6(KIF1C):c.798+3G>T SNV Uncertain significance 639076 rs777181739 GRCh37: 17:4906987-4906987
GRCh38: 17:5003692-5003692
37 INCA1 , KIF1C NM_006612.6(KIF1C):c.608+2_608+3dup Duplication Uncertain significance 640687 rs1597841997 GRCh37: 17:4905937-4905938
GRCh38: 17:5002642-5002643
38 KIF1C NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu) SNV Uncertain significance 80584 rs267604960 GRCh37: 17:4927133-4927133
GRCh38: 17:5023838-5023838
39 INCA1 , KIF1C NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp) SNV Uncertain significance 645476 rs201085674 GRCh37: 17:4904556-4904556
GRCh38: 17:5001261-5001261
40 INCA1 , KIF1C NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln) SNV Uncertain significance 645785 rs199962814 GRCh37: 17:4905829-4905829
GRCh38: 17:5002534-5002534
41 INCA1 , KIF1C NM_006612.6(KIF1C):c.126G>C (p.Gln42His) SNV Uncertain significance 648718 rs202033753 GRCh37: 17:4904086-4904086
GRCh38: 17:5000791-5000791
42 KIF1C NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe) SNV Uncertain significance 649471 rs779584975 GRCh37: 17:4927232-4927232
GRCh38: 17:5023937-5023937
43 KIF1C NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu) SNV Uncertain significance 653225 rs143987985 GRCh37: 17:4927139-4927139
GRCh38: 17:5023844-5023844
44 KIF1C NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val) SNV Uncertain significance 654742 rs373541138 GRCh37: 17:4927262-4927262
GRCh38: 17:5023967-5023967
45 INCA1 , KIF1C NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln) SNV Uncertain significance 655191 rs367997542 GRCh37: 17:4908245-4908245
GRCh38: 17:5004950-5004950
46 KIF1C NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu) SNV Uncertain significance 657608 rs1283601775 GRCh37: 17:4923883-4923883
GRCh38: 17:5020588-5020588
47 KIF1C NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu) SNV Uncertain significance 663676 rs376385209 GRCh37: 17:4925592-4925592
GRCh38: 17:5022297-5022297
48 INCA1 , KIF1C NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu) SNV Uncertain significance 663783 rs757847238 GRCh37: 17:4904685-4904685
GRCh38: 17:5001390-5001390
49 INCA1 , KIF1C NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr) SNV Uncertain significance 664428 rs754938138 GRCh37: 17:4905906-4905906
GRCh38: 17:5002611-5002611
50 INCA1 , KIF1C NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe) SNV Uncertain significance 665779 rs760721111 GRCh37: 17:4907327-4907327
GRCh38: 17:5004032-5004032

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

72
# Symbol AA change Variation ID SNP ID
1 KIF1C p.Arg169Trp VAR_070937 rs587777198

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
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32 ICD10
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
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61 PubMed
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71 UMLS via Orphanet
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