MCID: SPN273
MIFTS: 27

Spinocerebellar Ataxia, Autosomal Recessive 16

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 16

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 16:

Name: Spinocerebellar Ataxia, Autosomal Recessive 16 57 29 6 73
Scar16 57 59 75
Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 16 40
Spinocerebellar Ataxia Autosomal Recessive Type 16 59
Spinocerebellar Ataxia, Autosomal Recessive, 16 75
Autosomal Recessive Spinocerebellar Ataxia 16 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia due to stub1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in second decade
variable age at onset (range 2 to 48 years)


HPO:

32
spinocerebellar ataxia, autosomal recessive 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 16

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 16: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 16, is also known as scar16, and has symptoms including ataxia, truncal An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 16 is STUB1 (STIP1 Homology And U-Box Containing Protein 1). Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are external ophthalmoplegia and nystagmus

OMIM : 57 Autosomal recessive spinocerebellar ataxia-16 is a progressive neurologic disorder characterized by truncal and limb ataxia resulting in gait instability. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy (summary by Shi et al., 2013). (615768)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 16

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 16

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
limb ataxia
cerebellar hypoplasia
truncal ataxia
cerebellar atrophy
more
Genitourinary Bladder:
urinary urge incontinence (in some patients)

Endocrine Features:
hypogonadotropic hypogonadism (in some females)
lack of secondary sexual characteristics (in 1 family)

Head And Neck Eyes:
nystagmus (in some patients)
external ophthalmoplegia (in some patients)

Neurologic Peripheral Nervous System:
sensory axonal neuropathy, distal, mild


Clinical features from OMIM:

615768

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
2 nystagmus 32 occasional (7.5%) HP:0000639
3 spasticity 32 occasional (7.5%) HP:0001257
4 dysarthria 32 HP:0001260
5 cerebellar atrophy 32 HP:0001272
6 cerebellar hypoplasia 32 HP:0001321
7 tremor 32 occasional (7.5%) HP:0001337
8 limb ataxia 32 HP:0002070
9 truncal ataxia 32 HP:0002078
10 unsteady gait 32 HP:0002317
11 ankle clonus 32 occasional (7.5%) HP:0011448
12 cognitive impairment 32 occasional (7.5%) HP:0100543

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 16:


ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 16

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 16:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 16 29 STUB1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 16:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Variations for Spinocerebellar Ataxia, Autosomal Recessive 16

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 STUB1 p.Ala79Asp VAR_071293 rs587777347
2 STUB1 p.Ala79Thr VAR_071294 rs587777346
3 STUB1 p.Leu123Val VAR_071295 rs587777344
4 STUB1 p.Asn130Ile VAR_071296 rs587777341
5 STUB1 p.Trp147Cys VAR_071297 rs587777342
6 STUB1 p.Leu165Phe VAR_071298 rs587777340
7 STUB1 p.Ser236Thr VAR_071299
8 STUB1 p.Met240Thr VAR_071300 rs587777345
9 STUB1 p.Thr246Met VAR_071301 rs587777343
10 STUB1 p.Glu28Lys VAR_072348
11 STUB1 p.Asn65Ser VAR_072349 rs690016544
12 STUB1 p.Lys145Gln VAR_072350 rs146251364

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 STUB1 NM_005861.3(STUB1): c.493C> T (p.Leu165Phe) single nucleotide variant Pathogenic rs587777340 GRCh38 Chromosome 16, 681572: 681572
2 STUB1 NM_005861.3(STUB1): c.493C> T (p.Leu165Phe) single nucleotide variant Pathogenic rs587777340 GRCh37 Chromosome 16, 731572: 731572
3 STUB1 NM_005861.3(STUB1): c.389A> T (p.Asn130Ile) single nucleotide variant Pathogenic rs587777341 GRCh38 Chromosome 16, 681468: 681468
4 STUB1 NM_005861.3(STUB1): c.389A> T (p.Asn130Ile) single nucleotide variant Pathogenic rs587777341 GRCh37 Chromosome 16, 731468: 731468
5 STUB1 NM_005861.3(STUB1): c.441G> T (p.Trp147Cys) single nucleotide variant Pathogenic rs587777342 GRCh38 Chromosome 16, 681520: 681520
6 STUB1 NM_005861.3(STUB1): c.441G> T (p.Trp147Cys) single nucleotide variant Pathogenic rs587777342 GRCh37 Chromosome 16, 731520: 731520
7 STUB1 NM_005861.3(STUB1): c.737C> T (p.Thr246Met) single nucleotide variant Pathogenic rs587777343 GRCh38 Chromosome 16, 682232: 682232
8 STUB1 NM_005861.3(STUB1): c.737C> T (p.Thr246Met) single nucleotide variant Pathogenic rs587777343 GRCh37 Chromosome 16, 732232: 732232
9 STUB1 NM_005861.3(STUB1): c.367C> G (p.Leu123Val) single nucleotide variant Pathogenic rs587777344 GRCh38 Chromosome 16, 681446: 681446
10 STUB1 NM_005861.3(STUB1): c.367C> G (p.Leu123Val) single nucleotide variant Pathogenic rs587777344 GRCh37 Chromosome 16, 731446: 731446
11 STUB1 NM_005861.3(STUB1): c.719T> C (p.Met240Thr) single nucleotide variant Pathogenic rs587777345 GRCh38 Chromosome 16, 682214: 682214
12 STUB1 NM_005861.3(STUB1): c.719T> C (p.Met240Thr) single nucleotide variant Pathogenic rs587777345 GRCh37 Chromosome 16, 732214: 732214
13 STUB1 NM_005861.3(STUB1): c.235G> A (p.Ala79Thr) single nucleotide variant Pathogenic rs587777346 GRCh38 Chromosome 16, 681227: 681227
14 STUB1 NM_005861.3(STUB1): c.235G> A (p.Ala79Thr) single nucleotide variant Pathogenic rs587777346 GRCh37 Chromosome 16, 731227: 731227
15 STUB1 NM_005861.3(STUB1): c.236C> A (p.Ala79Asp) single nucleotide variant Pathogenic rs587777347 GRCh38 Chromosome 16, 681228: 681228
16 STUB1 NM_005861.3(STUB1): c.236C> A (p.Ala79Asp) single nucleotide variant Pathogenic rs587777347 GRCh37 Chromosome 16, 731228: 731228
17 STUB1 NM_005861.3(STUB1): c.194A> G (p.Asn65Ser) single nucleotide variant Pathogenic rs690016544 GRCh37 Chromosome 16, 731186: 731186
18 STUB1 NM_005861.3(STUB1): c.194A> G (p.Asn65Ser) single nucleotide variant Pathogenic rs690016544 GRCh38 Chromosome 16, 681186: 681186
19 STUB1 NM_005861.3(STUB1): c.646dup (p.Ser216Phefs) duplication Pathogenic GRCh38 Chromosome 16, 682053: 682053
20 STUB1 NM_005861.3(STUB1): c.646dup (p.Ser216Phefs) duplication Pathogenic GRCh37 Chromosome 16, 732053: 732053
21 STUB1 NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del) deletion Likely pathogenic GRCh38 Chromosome 16, 682189: 682194
22 STUB1 NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del) deletion Likely pathogenic GRCh37 Chromosome 16, 732189: 732194
23 STUB1 NM_005861.3(STUB1): c.721C> G (p.Arg241Gly) single nucleotide variant Likely pathogenic rs760424025 GRCh38 Chromosome 16, 682216: 682216
24 STUB1 NM_005861.3(STUB1): c.721C> G (p.Arg241Gly) single nucleotide variant Likely pathogenic rs760424025 GRCh37 Chromosome 16, 732216: 732216
25 STUB1 NM_001293197.1(STUB1): c.*240T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 682729: 682729
26 STUB1 NM_001293197.1(STUB1): c.*240T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 732729: 732729

Expression for Spinocerebellar Ataxia, Autosomal Recessive 16

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 16.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 16

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

Sources for Spinocerebellar Ataxia, Autosomal Recessive 16

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