Spastic Ataxia 2, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPAX2 MCID: SPS142 MIFTS: 24	Spastic Ataxia 2, Autosomal Recessive (SPAX2) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 611302

Orphanet ⁵⁹ ORPHA397946

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C1969796

MeSH ⁴⁴ D002524

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 270476009 more

UMLS ⁷³ C1969796

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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.

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Related Diseases for Spastic Ataxia 2, Autosomal Recessive

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 1	Spastic Ataxia 2
Spastic Ataxia 3	Spastic Ataxia 4
Spastic Ataxia 5	Spastic Ataxia 7
Spastic Ataxia 8

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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

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Drugs & Therapeutics for Spastic Ataxia 2, Autosomal Recessive

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

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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

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Anatomical Context for Spastic Ataxia 2, Autosomal Recessive

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

⁴¹

Eye

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Publications for Spastic Ataxia 2, Autosomal Recessive

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Genes for Spastic Ataxia 2, Autosomal Recessive

Genes related to Spastic Ataxia 2, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIF1C	Kinesin Family Member 1C	Protein Coding	1697.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	24482476 17273843 24319291

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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

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Expression for Spastic Ataxia 2, Autosomal Recessive

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

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Pathways for Spastic Ataxia 2, Autosomal Recessive

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GO Terms for Spastic Ataxia 2, Autosomal Recessive

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Spastic Ataxia 2, Autosomal Recessive (SPAX2)

Aliases & Classifications for Spastic Ataxia 2, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 2, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Ataxia 2, Autosomal Recessive

Related Diseases for Spastic Ataxia 2, Autosomal Recessive

Diseases in the Spastic Ataxia family:

Symptoms & Phenotypes for Spastic Ataxia 2, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spastic Ataxia 2, Autosomal Recessive:

UMLS symptoms related to Spastic Ataxia 2, Autosomal Recessive:

Drugs & Therapeutics for Spastic Ataxia 2, Autosomal Recessive

Genetic Tests for Spastic Ataxia 2, Autosomal Recessive

Genetic tests related to Spastic Ataxia 2, Autosomal Recessive:

Anatomical Context for Spastic Ataxia 2, Autosomal Recessive

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

Publications for Spastic Ataxia 2, Autosomal Recessive

Genes for Spastic Ataxia 2, Autosomal Recessive

Genes related to Spastic Ataxia 2, Autosomal Recessive (1 elite genes):

Variations for Spastic Ataxia 2, Autosomal Recessive

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

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

Expression 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