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

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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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615768

Disease Ontology ¹² DOID:0080029

Orphanet ⁵⁹ ORPHA412057

ICD10 via Orphanet ³⁴ G11.1

MedGen ⁴² C4014261 CN186321

MeSH ⁴⁴ D002524 D013132

SNOMED-CT via HPO ⁶⁹ 258211005 19373007 46252003 more

UMLS ⁷³ C4014261

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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)

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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

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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

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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:

⁴¹

Spinal Cord, Cerebellum, Eye

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Publications for Spinocerebellar Ataxia, Autosomal Recessive 16

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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	1690.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	24312598 24113144 24742043 (more) 25258038
2	JMJD8	Jumonji Domain Containing 8	Protein Coding	9.04	GeneCards inferred via : Variants (show sections)
3	LOC105371184	Uncharacterized LOC105371184	Pseudogene	8.86	GeneCards inferred via : Variants (show sections)

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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

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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

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 16

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