SCAR16
MCID: SPN273
MIFTS: 35

Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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 Spinocerebellar Ataxia 16 12 15
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

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, also known as scar16, is related to ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia, 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 eye, spinal cord and cerebellum, and related phenotypes are nystagmus and hypothyroidism

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 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.1
2 autosomal dominant cerebellar ataxia 10.1

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:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000821
3 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
4 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
5 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 type ii diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0005978
9 abnormal facial shape 59 32 very rare (1%) Very rare (<4-1%) HP:0001999
10 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
11 type i diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0100651
12 alopecia 59 32 very rare (1%) Very rare (<4-1%) HP:0001596
13 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
14 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
15 pancreatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001733
16 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
17 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
18 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
19 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
20 glaucoma 59 32 very rare (1%) Very rare (<4-1%) HP:0000501
21 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
22 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
23 adducted thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001181
24 saccadic smooth pursuit 59 32 very rare (1%) Very rare (<4-1%) HP:0001152
25 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
26 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
27 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
28 infertility 59 32 very rare (1%) Very rare (<4-1%) HP:0000789
29 cerebellar atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001272
30 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
31 lower limb spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002061
32 ankle clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0011448
33 oculomotor apraxia 59 32 very rare (1%) Very rare (<4-1%) HP:0000657
34 corpus callosum atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007371
35 head tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002346
36 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
37 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
38 parietal cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012104
39 abnormal motor evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0012896
40 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
41 speech apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011098
42 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
43 progeroid facial appearance 59 32 frequent (33%) Frequent (79-30%) HP:0005328
44 hypoplasia of the pons 59 32 occasional (7.5%) Occasional (29-5%) HP:0012110
45 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
46 oligomenorrhea 59 32 very rare (1%) Very rare (<4-1%) HP:0000876
47 hand tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002378
48 iridocyclitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001094
49 abnormality of the sella turcica 59 32 very rare (1%) Very rare (<4-1%) HP:0002679
50 retinal atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0001105

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
Eye, Spinal Cord, Cerebellum, Skin, Liver, Pons

Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:

# Title Authors Year
1
Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. ( 29317501 )
2018
2
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. ( 30058754 )
2018
3
Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. ( 30206723 )
2018
4
Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16. ( 30222779 )
2018

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 GRCh37 Chromosome 16, 732189: 732194
22 STUB1 NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del) deletion Likely pathogenic GRCh38 Chromosome 16, 682189: 682194
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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