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

SCAR16 MCID: SPN273 MIFTS: 45	Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 16

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 16:

Name: Spinocerebellar Ataxia, Autosomal Recessive 16 ⁵⁶ ²⁹ ⁶ ⁷¹

Scar16 ⁵⁶ ⁵⁸ ⁷³

Autosomal Recessive Spinocerebellar Ataxia 16 ¹² ¹⁵

Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency ⁵⁸

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16 ³⁹

Spinocerebellar Ataxia Autosomal Recessive Type 16 ⁵⁸

Spinocerebellar Ataxia, Autosomal Recessive, 16 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080029

OMIM ⁵⁶ 615768

OMIM Phenotypic Series ⁵⁶ PS213200

MeSH ⁴³ D002524 D013132

ICD10 via Orphanet ³³ G11.1

Orphanet ⁵⁸ ORPHA412057

MedGen ⁴¹ C4014261 CN186321

SNOMED-CT via HPO ⁶⁸ 103276001 128613002 15188001 more

UMLS ⁷¹ C4014261

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Summaries for Spinocerebellar Ataxia, Autosomal Recessive 16

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia, autosomal recessive, 16: A form of spinocerebellar ataxia, 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 gordon holmes syndrome and ataxia and polyneuropathy, adult-onset, 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), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and G-AlphaQ Signaling. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and cerebellar atrophy

Disease Ontology : ¹² An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has material basis in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.

OMIM : ⁵⁶ 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)

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Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 16

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 2
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, Autosomal Recessive 28	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	gordon holmes syndrome	30.1	STUB1 ST13
2	ataxia and polyneuropathy, adult-onset	10.4
3	autosomal dominant cerebellar ataxia	10.4
4	hypogonadism	10.2
5	spinocerebellar ataxia 48	10.0	STUB1 JMJD8
6	fibrolamellar carcinoma	9.4	PRKAR2B PRKACA
7	carney complex variant	9.3	PRKAR2B PRKACA
8	primary pigmented nodular adrenocortical disease	9.2	PRKAR2B PRKACA

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 16:

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Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 16

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

⁵⁸ ³¹ (show top 50) (show all 59)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001260
2	cerebellar atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001272
3	limb ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002070
4	truncal ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002078
5	arachnodactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001166
6	adducted thumb ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001181
7	impaired proprioception ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010831
8	unsteady gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002317
9	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
10	postural instability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002172
11	progeroid facial appearance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005328
12	abnormal motor evoked potentials ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012896
13	hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000365
14	global developmental delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001263
15	cognitive impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100543
16	dysphagia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002015
17	nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
18	memory impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002354
19	ophthalmoplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000602
20	cerebellar hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001321
21	distal amyotrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003693
22	head tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002346
23	speech apraxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011098
24	rigidity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002063
25	hypogonadism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000135
26	hyperactive deep tendon reflexes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006801
27	lower limb spasticity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002061
28	hypoplasia of the pons ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012110
29	ankle clonus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011448
30	horizontal nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000666
31	hand tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002378
32	corpus callosum atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007371
33	postural tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002174
34	gaze-evoked nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000640
35	parietal cortical atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012104
36	spasticity ³¹	occasional (7.5%)		HP:0001257
37	tremor ³¹	occasional (7.5%)		HP:0001337
38	external ophthalmoplegia ³¹	occasional (7.5%)		HP:0000544
39	type ii diabetes mellitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0005978
40	abnormal facial shape ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001999
41	hypothyroidism ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000821
42	type i diabetes mellitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100651
43	alopecia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001596
44	glaucoma ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000501
45	infertility ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000789
46	oculomotor apraxia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000657
47	pancreatitis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001733
48	saccadic smooth pursuit ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001152
49	iridocyclitis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001094
50	oligomenorrhea ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000876

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
dysarthria
cerebellar hypoplasia
cerebellar atrophy
limb ataxia
truncal ataxia
more

Genitourinary Bladder:
urinary urgency (in some patients)
urinary 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

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 16

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

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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

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 16

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

⁴⁰

Eye, Cerebellum, Spinal Cord, Pons, Skeletal Muscle

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:

(show all 22)

#	Title	Authors	PMID	Year
1	STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. ⁵⁶ ⁶	Heimdal K...Johansson S	25258038	2014
2	Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. ⁶ ⁵⁶	Synofzik M...Bauer P	24742043	2014
3	Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. ⁶ ⁵⁶	Shi CH...Xu YM	24113144	2014
4	Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. ⁵⁶ ⁶	Shi Y...Tang B	24312598	2013
5	Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. ⁵⁶	Depondt C...Pandolfo M	24719489	2014
6	Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. ⁶¹	Chiu HH...Soong BW	32367277	2020
7	Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia. ⁶¹	Olszewska DA...Kinsella JA	32258232	2020
8	Spinocerebellar ataxia type 48: last but not least. ⁶¹	De Michele G...Santorelli FM	32342324	2020
9	The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. ⁶¹	Lieto M...Silvestri G	31571321	2020
10	Changes in protein function underlie the disease spectrum in patients with CHIP mutations. ⁶¹	Madrigal SC...Schisler JC	31619515	2019
11	Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. ⁶¹	De Michele G...Santorelli FM	31126790	2019
12	Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system. ⁶¹	Rinaldi L...Feliciello A	31189917	2019
13	Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus. ⁶¹	Schuster S...Hauser S	30605842	2019
14	[Diagnostic algorithm for autosomal recessive ataxia]. ⁶¹	Nuzhnyi EP...Illarioshkin SN	31626222	2019
15	Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. ⁶¹	Gazulla J...Alvarez S	30206723	2018
16	Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). ⁶¹	Genis D...Pastor P	30381368	2018
17	STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. ⁶¹	Turkgenc B...Temel SG	30058754	2018
18	Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16. ⁶¹	Shi CH...Schisler JC	30222779	2018
19	Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. ⁶¹	Schuster S...Hauser S	29679845	2018
20	Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. ⁶¹	Kanack AJ...Scaglione KM	29317501	2018
21	In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. ⁶¹	Pakdaman Y...Aukrust I	28396517	2017
22	SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE. ⁶¹	Schisler JC...Willis MS	28593200	2016

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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	1685.95	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	24742043 24113144 24312598 (more) 25258038
2	JMJD8	Jumonji Domain Containing 8	Protein Coding	8.61	GeneCards inferred via : Variants (show sections)
3	NEK10	NIMA Related Kinase 10	Protein Coding	6.83	DISEASES inferred ¹⁵
4	ST13	ST13 Hsp70 Interacting Protein	Protein Coding	5.76	DISEASES inferred ¹⁵
5	HSPBP1	HSPA (Hsp70) Binding Protein 1	Protein Coding	5.53	DISEASES inferred ¹⁵
6	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	5.47	DISEASES inferred ¹⁵
7	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	5.16	DISEASES inferred ¹⁵
8	ADCY2	Adenylate Cyclase 2	Protein Coding	4.73	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia, Autosomal Recessive 16

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

⁶ (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	STUB1	NM_005861.4(STUB1):c.646dup (p.Ser216fs)	duplication	Pathogenic	436887	rs1555475283	16:732047-732048	16:682047-682048
2	STUB1	NM_005861.4(STUB1):c.885dup (p.Glu296Ter)	duplication	Pathogenic	623185	rs1567283195	16:732461-732462	16:682461-682462
3	STUB1	NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)	SNV	Pathogenic	127143	rs587777340	16:731572-731572	16:681572-681572
4	STUB1	NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)	SNV	Pathogenic	127144	rs587777341	16:731468-731468	16:681468-681468
5	STUB1	NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)	SNV	Pathogenic	127145	rs587777342	16:731520-731520	16:681520-681520
6	STUB1	NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	SNV	Pathogenic	127147	rs587777344	16:731446-731446	16:681446-681446
7	STUB1	NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	SNV	Pathogenic	127148	rs587777345	16:732214-732214	16:682214-682214
8	STUB1	NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)	SNV	Pathogenic	127149	rs587777346	16:731227-731227	16:681227-681227
9	STUB1	NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)	SNV	Pathogenic	127150	rs587777347	16:731228-731228	16:681228-681228
10	STUB1	NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	SNV	Pathogenic	162097	rs690016544	16:731186-731186	16:681186-681186
11	STUB1	NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	deletion	Likely pathogenic	436888	rs1555475375	16:732189-732194	16:682189-682194
12	STUB1	NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	SNV	Likely pathogenic	436889	rs760424025	16:732216-732216	16:682216-682216
13	STUB1	NM_005861.4(STUB1):c.*240T>C	SNV	Likely pathogenic	522378	rs1555475794	16:732729-732729	16:682729-682729
14	STUB1	NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	SNV	Uncertain significance	127146	rs587777343	16:732232-732232	16:682232-682232
15	STUB1	NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	SNV	Uncertain significance	212325	rs146251364	16:731512-731512	16:681512-681512

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

⁷³ (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

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 16

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

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 16

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

(show all 25)

#	Super pathways	Score	Top Affiliating Genes
1	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	12.97	STUB1 PRKAR2B PRKACA ADCY2
2	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.38	PRKAR2B PRKACA ADCY2
3	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.37	PRKAR2B PRKACA ADCY2
4	Signaling by Hedgehog ⁶⁵ Show member pathways Activation of SMO ⁶⁵ Hedgehog off' state ⁶⁵ Hedgehog on' state ⁶⁵	12.3	PRKAR2B PRKACA ADCY2
5	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶³ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.26	PRKAR2B PRKACA ADCY2
6	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²²	12.21	PRKAR2B PRKACA ADCY2
7	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.19	PRKAR2B PRKACA ADCY2
8	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² Glucagon signaling in metabolic regulation ⁶⁵ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁵ Passive transport by Aquaporins ⁶⁵ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁵ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁵	12.07	PRKAR2B PRKACA ADCY2
9	G-protein signaling G-Protein alpha-i signaling cascades ²² Show member pathways Development Beta-adrenergic receptors regulation of ERK ²² G-protein signaling G-Protein alpha-s signaling cascades ²² G-protein signaling G-Protein beta/gamma signaling cascades ²²	11.98	PRKAR2B PRKACA ADCY2
10	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	11.94	PRKAR2B PRKACA ADCY2
11	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	11.9	PRKAR2B PRKACA ADCY2
12	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	11.65	PRKAR2B PRKACA ADCY2
13	Colorectal Cancer Metastasis ⁶³	11.55	PRKAR2B PRKACA ADCY2
14	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.49	PRKAR2B PRKACA
15	Regulation of lipolysis in adipocytes ³⁶	11.35	PRKACA ADCY2
16	Adenylate cyclase inhibitory pathway ⁶⁵ Show member pathways Adenylate cyclase activating pathway ⁶⁵ Inhibition of adenylate cyclase pathway ⁶⁵ LPA4-mediated signaling events ¹	11.33	PRKACA ADCY2
17	Development_Leptin signaling via PI3K-dependent pathway ²²	11.29	PRKAR2B PRKACA
18	Ovarian steroidogenesis ³⁶	11.27	PRKACA ADCY2
19	Netrin Signaling ⁶³	11.24	PRKAR2B PRKACA
20	NgR-p75(NTR)-Mediated Signaling ⁶³	11.17	PRKAR2B PRKACA
21	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.09	PRKAR2B PRKACA
22	Signal transduction_PKA signaling ²²	11.07	PRKAR2B PRKACA ADCY2
23	14-3-3 and Regulation of BAD Activity ⁶³	10.96	PRKAR2B PRKACA
24	Transcription_CREM signaling in testis ²²	10.68	PRKAR2B PRKACA
25	Melanocyte Development and Pigmentation ⁶³	10.41	PRKAR2B PRKACA ADCY2

Sources

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary base	GO:0097546	8.96	PRKAR2B PRKACA
2	cAMP-dependent protein kinase complex	GO:0005952	8.62	PRKAR2B PRKACA

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.4	PRKAR2B PRKACA
2	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	GO:0032436	9.37	STUB1 HSPBP1
3	renal water homeostasis	GO:0003091	9.33	PRKAR2B PRKACA ADCY2
4	positive regulation of protein ubiquitination	GO:0031398	9.32	STUB1 HSPBP1
5	cellular response to heat	GO:0034605	9.26	STUB1 PRKACA
6	cellular response to glucagon stimulus	GO:0071377	9.13	PRKAR2B PRKACA ADCY2
7	activation of protein kinase A activity	GO:0034199	8.8	PRKAR2B PRKACA ADCY2

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding, bridging	GO:0030674	9.37	STUB1 ST13
2	heat shock protein binding	GO:0031072	9.32	STUB1 ST13
3	manganese ion binding	GO:0030145	9.26	PRKACA ADCY2
4	Hsp70 protein binding	GO:0030544	9.16	STUB1 ST13
5	protein domain specific binding	GO:0019904	9.13	ST13 PRKAR2B PRKACA
6	ubiquitin protein ligase binding	GO:0031625	8.92	STUB1 PRKAR2B PRKACA HSPBP1

Sources

Sources for Spinocerebellar Ataxia, Autosomal Recessive 16

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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 6 family:

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

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 16:

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

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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

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

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

Expression for Spinocerebellar Ataxia, Autosomal Recessive 16

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 16

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:

Sources for Spinocerebellar Ataxia, Autosomal Recessive 16