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

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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 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:

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: 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 48130008 103276001 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, 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)

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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 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

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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:

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

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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

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

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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 )	Kanack AJ...Scaglione KM	2018
2	STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. ( 30058754 )	Turkgenc B...Temel SG	2018
3	Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. ( 30206723 )	Gazulla J...Alvarez S	2018
4	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

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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	1696.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	24312598 24113144 24742043 (more) 25258038
2	JMJD8	Jumonji Domain Containing 8	Protein Coding	8.95	GeneCards inferred via : Variants (show sections)
3	LOC105371184	Uncharacterized LOC105371184	Pseudogene	8.78	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		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

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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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Sources for Spinocerebellar Ataxia, Autosomal Recessive 16

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:

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