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 58 30 6 74
Scar16 58 60 76
Autosomal Recessive Spinocerebellar Ataxia 16 12 15
Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency 60
Ataxia, Spinocerebellar, Autosomal Recessive, Type 16 41
Spinocerebellar Ataxia Autosomal Recessive Type 16 60
Spinocerebellar Ataxia, Autosomal Recessive, 16 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive cerebellar ataxia due to stub1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spinocerebellar ataxia, autosomal recessive 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 16

UniProtKB/Swiss-Prot : 76 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 dysarthria and limb ataxia

OMIM : 58 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 48
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
3 truncal ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002078
4 cerebellar atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001272
5 impaired proprioception 60 33 frequent (33%) Frequent (79-30%) HP:0010831
6 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
7 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
8 adducted thumb 60 33 frequent (33%) Frequent (79-30%) HP:0001181
9 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
10 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
11 abnormal motor evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0012896
12 progeroid facial appearance 60 33 frequent (33%) Frequent (79-30%) HP:0005328
13 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
14 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
15 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
16 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
17 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
18 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
19 ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000602
20 hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000135
21 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
22 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
23 postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002174
24 horizontal nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000666
25 lower limb spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002061
26 ankle clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0011448
27 corpus callosum atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007371
28 head tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002346
29 parietal cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012104
30 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
31 speech apraxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011098
32 hyperactive deep tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0006801
33 hypoplasia of the pons 60 33 occasional (7.5%) Occasional (29-5%) HP:0012110
34 gaze-evoked nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000640
35 hand tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002378
36 spasticity 33 occasional (7.5%) HP:0001257
37 tremor 33 occasional (7.5%) HP:0001337
38 external ophthalmoplegia 33 occasional (7.5%) HP:0000544
39 hypothyroidism 60 33 very rare (1%) Very rare (<4-1%) HP:0000821
40 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
41 type ii diabetes mellitus 60 33 very rare (1%) Very rare (<4-1%) HP:0005978
42 abnormal facial shape 60 33 very rare (1%) Very rare (<4-1%) HP:0001999
43 type i diabetes mellitus 60 33 very rare (1%) Very rare (<4-1%) HP:0100651
44 alopecia 60 33 very rare (1%) Very rare (<4-1%) HP:0001596
45 pancreatitis 60 33 very rare (1%) Very rare (<4-1%) HP:0001733
46 glaucoma 60 33 very rare (1%) Very rare (<4-1%) HP:0000501
47 saccadic smooth pursuit 60 33 very rare (1%) Very rare (<4-1%) HP:0001152
48 infertility 60 33 very rare (1%) Very rare (<4-1%) HP:0000789
49 oculomotor apraxia 60 33 very rare (1%) Very rare (<4-1%) HP:0000657
50 oligomenorrhea 60 33 very rare (1%) Very rare (<4-1%) HP:0000876

Symptoms via clinical synopsis from OMIM:

58
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

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 30 STUB1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

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

42
Eye, Spinal Cord, Cerebellum, 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:

76 (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 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 STUB1 NM_005861.3(STUB1): c.194A> G (p.Asn65Ser) single nucleotide variant Pathogenic rs690016544 GRCh37 Chromosome 16, 731186: 731186
2 STUB1 NM_005861.3(STUB1): c.194A> G (p.Asn65Ser) single nucleotide variant Pathogenic rs690016544 GRCh38 Chromosome 16, 681186: 681186
3 STUB1 NM_005861.3(STUB1): c.493C> T (p.Leu165Phe) single nucleotide variant Pathogenic rs587777340 GRCh38 Chromosome 16, 681572: 681572
4 STUB1 NM_005861.3(STUB1): c.493C> T (p.Leu165Phe) single nucleotide variant Pathogenic rs587777340 GRCh37 Chromosome 16, 731572: 731572
5 STUB1 NM_005861.3(STUB1): c.389A> T (p.Asn130Ile) single nucleotide variant Pathogenic rs587777341 GRCh38 Chromosome 16, 681468: 681468
6 STUB1 NM_005861.3(STUB1): c.389A> T (p.Asn130Ile) single nucleotide variant Pathogenic rs587777341 GRCh37 Chromosome 16, 731468: 731468
7 STUB1 NM_005861.3(STUB1): c.441G> T (p.Trp147Cys) single nucleotide variant Pathogenic rs587777342 GRCh38 Chromosome 16, 681520: 681520
8 STUB1 NM_005861.3(STUB1): c.441G> T (p.Trp147Cys) single nucleotide variant Pathogenic rs587777342 GRCh37 Chromosome 16, 731520: 731520
9 STUB1 NM_005861.3(STUB1): c.737C> T (p.Thr246Met) single nucleotide variant Pathogenic rs587777343 GRCh38 Chromosome 16, 682232: 682232
10 STUB1 NM_005861.3(STUB1): c.737C> T (p.Thr246Met) single nucleotide variant Pathogenic rs587777343 GRCh37 Chromosome 16, 732232: 732232
11 STUB1 NM_005861.3(STUB1): c.367C> G (p.Leu123Val) single nucleotide variant Pathogenic rs587777344 GRCh38 Chromosome 16, 681446: 681446
12 STUB1 NM_005861.3(STUB1): c.367C> G (p.Leu123Val) single nucleotide variant Pathogenic rs587777344 GRCh37 Chromosome 16, 731446: 731446
13 STUB1 NM_005861.3(STUB1): c.719T> C (p.Met240Thr) single nucleotide variant Pathogenic rs587777345 GRCh38 Chromosome 16, 682214: 682214
14 STUB1 NM_005861.3(STUB1): c.719T> C (p.Met240Thr) single nucleotide variant Pathogenic rs587777345 GRCh37 Chromosome 16, 732214: 732214
15 STUB1 NM_005861.3(STUB1): c.235G> A (p.Ala79Thr) single nucleotide variant Pathogenic rs587777346 GRCh38 Chromosome 16, 681227: 681227
16 STUB1 NM_005861.3(STUB1): c.235G> A (p.Ala79Thr) single nucleotide variant Pathogenic rs587777346 GRCh37 Chromosome 16, 731227: 731227
17 STUB1 NM_005861.3(STUB1): c.236C> A (p.Ala79Asp) single nucleotide variant Pathogenic rs587777347 GRCh38 Chromosome 16, 681228: 681228
18 STUB1 NM_005861.3(STUB1): c.236C> A (p.Ala79Asp) single nucleotide variant Pathogenic rs587777347 GRCh37 Chromosome 16, 731228: 731228
19 STUB1 NM_005861.3(STUB1): c.646dup (p.Ser216Phefs) duplication Pathogenic rs1555475283 GRCh38 Chromosome 16, 682053: 682053
20 STUB1 NM_005861.3(STUB1): c.646dup (p.Ser216Phefs) duplication Pathogenic rs1555475283 GRCh37 Chromosome 16, 732053: 732053
21 STUB1 NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del) deletion Likely pathogenic rs1555475375 GRCh38 Chromosome 16, 682189: 682194
22 STUB1 NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del) deletion Likely pathogenic rs1555475375 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 rs1555475794 GRCh38 Chromosome 16, 682729: 682729
26 STUB1 NM_001293197.1(STUB1): c.*240T> C single nucleotide variant Likely pathogenic rs1555475794 GRCh37 Chromosome 16, 732729: 732729
27 STUB1 NM_005861.4(STUB1): c.885dup (p.Glu296Terfs) duplication Pathogenic GRCh37 Chromosome 16, 732462: 732463
28 STUB1 NM_005861.4(STUB1): c.885dup (p.Glu296Terfs) duplication Pathogenic GRCh38 Chromosome 16, 682462: 682462

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....