Spinocerebellar Ataxia, Autosomal Recessive 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080029

OMIM ⁵⁸ 615768

MeSH ⁴⁵ D002524 D013132

ICD10 via Orphanet ³⁵ G11.1

Orphanet ⁶⁰ ORPHA412057

MedGen ⁴³ C4014261 CN186321

SNOMED-CT via HPO ⁷⁰ 103276001 128613002 15188001 more

UMLS ⁷⁴ C4014261

Sources

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)

Sources

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 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, Autosomal Recessive 27
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

Sources

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	hyperactive deep tendon reflexes ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0006801
30	parietal cortical atrophy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012104
31	distal amyotrophy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003693
32	speech apraxia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011098
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

Sources

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 16

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

Sources

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

Sources

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

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

⁴²

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

Sources

Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:

#	Title	Authors	Year
1	Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. ( 29679845 )	Schuster S...Hauser S	2018
2	Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. ( 29317501 )	Kanack AJ...Scaglione KM	2018
3	STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. ( 30058754 )	Turkgenc B...Temel SG	2018
4	Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. ( 30206723 )	Gazulla J...Alvarez S	2018
5	Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16. ( 30222779 )	Shi CH...Schisler JC	2018
6	Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. ( 24113144 )	Shi CH...Xu YM	2014
7	Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. ( 24742043 )	Synofzik M...Bauer P	2014
8	STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. ( 25258038 )	Heimdal K...Johansson S	2014
9	Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. ( 24312598 )	Shi Y...Tang B	2013

Sources

Genes for Spinocerebellar Ataxia, Autosomal Recessive 16

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	STUB1	STIP1 Homology And U-Box Containing Protein 1	Protein Coding	1696.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	24312598 24113144 24742043 (more) 25258038
2	JMJD8	Jumonji Domain Containing 8	Protein Coding	9.07	GeneCards inferred via : Variants (show sections)
3	LOC105371184	Uncharacterized LOC105371184	Pseudogene	8.76	GeneCards inferred via : Variants (show sections)

Sources

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.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	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	GRCh37	Chromosome 16, 732189: 732194
22	STUB1	NM_005861.3(STUB1): c.694_699delTGTGGC (p.Cys232_Gly233del)	deletion	Likely pathogenic	rs1555475375	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	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

Sources

Expression for Spinocerebellar Ataxia, Autosomal Recessive 16

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

Sources

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 16

Sources

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

Sources

Sources for Spinocerebellar Ataxia, Autosomal Recessive 16

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 16

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 16:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 16

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 16

Diseases in the Spinocerebellar Ataxia 2 family:

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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 16

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 16:

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 16

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 16:

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 16

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 16 (1 elite genes):

Variations for Spinocerebellar Ataxia, Autosomal Recessive 16

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

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

Expression 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