SCAR20
MCID: SPN325
MIFTS: 46

Spinocerebellar Ataxia, Autosomal Recessive 20 (SCAR20)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 20

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 20:

Name: Spinocerebellar Ataxia, Autosomal Recessive 20 57 29 6
Scar20 57 58 72
Autosomal Recessive Spinocerebellar Ataxia 20 12 15
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 58
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 20 39
Autosomal Recessive Spinocerebellar Ataxia Type 20 58
Spinocerebellar Ataxia, Autosomal Recessive, 20 72

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
spinocerebellar ataxia, autosomal recessive 20:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 20

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 20: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 20, also known as scar20, is related to spinocerebellar ataxia 20 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 20 is SNX14 (Sorting Nexin 14), and among its related pathways/superpathways are Autophagy - animal and Senescence and Autophagy in Cancer. Affiliated tissues include cerebellum, spinal cord and pons, and related phenotypes are coarse facial features and intellectual disability, severe

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has material basis in homozygous mutation in the SNX14 gene on chromosome 6q14.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014). (616354) (Updated 05-Apr-2021)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 20

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 20 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 mental retardation, autosomal dominant 38 10.3 SNX14 ACSL3
4 alcohol-related neurodevelopmental disorder 10.2 WDR45 SNX14 EPG5
5 nescav syndrome 10.2 ZFYVE26 TECPR2
6 autosomal recessive cerebellar ataxia 10.2
7 dystonia 10.2
8 complex hereditary spastic paraplegia 10.1 SPG11 DDHD2
9 myopathy, x-linked, with excessive autophagy 10.1 EPG5 ATG5
10 hereditary spastic paraplegia 72 10.1 ZFYVE26 SPG11
11 hereditary spastic paraplegia 23 10.1 ZFYVE26 SPG11
12 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG11
13 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG11
14 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG11
15 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG11
16 neurodegeneration with brain iron accumulation 5 10.1 WDR45 TECPR2 SNX14 EPG5
17 macular degeneration, age-related, 14 10.1 SQSTM1 ATG5
18 spastic paraplegia 61, autosomal recessive 10.1 ZFYVE26 SPG11
19 cohen syndrome 10.0 SNX14 SNX13 MDM1
20 spastic paraplegia 33, autosomal dominant 10.0 ZFYVE26 SPG11
21 spastic paraplegia 5a, autosomal recessive 10.0 ZFYVE26 SPG11
22 spastic paraplegia 28, autosomal recessive 10.0 SPG11 DDHD2
23 spastic paraplegia 18, autosomal recessive 10.0 ZFYVE26 SPG11
24 spastic paraplegia 19, autosomal dominant 10.0 ZFYVE26 BSCL2
25 spastic paraplegia 55, autosomal recessive 10.0 ZFYVE26 SPG11
26 spastic paraplegia 54, autosomal recessive 10.0 SPG11 DDHD2
27 spastic paraplegia 11, autosomal recessive 10.0 ZFYVE26 SPG11
28 spastic paraplegia 45, autosomal recessive 10.0 SPG11 DDHD2
29 amyotrophic lateral sclerosis type 5 10.0 ZFYVE26 SPG11
30 spastic paraplegia 12, autosomal dominant 9.9 ZFYVE26 SPG11
31 ataxia and polyneuropathy, adult-onset 9.9
32 autosomal dominant cerebellar ataxia 9.9
33 spinocerebellar atrophy 9.9
34 spastic paraplegia 46, autosomal recessive 9.9 ZFYVE26 SPG11 DDHD2
35 spastic paraplegia 48, autosomal recessive 9.9 ZFYVE26 SPG11 DDHD2
36 spastic paraplegia 39, autosomal recessive 9.9 ZFYVE26 SPG11 DDHD2
37 spastic paraplegia 15, autosomal recessive 9.9 ZFYVE26 SPG11 DDHD2
38 spastic paraplegia 56, autosomal recessive 9.9 ZFYVE26 SPG11 DDHD2
39 spastic paraplegia 2, x-linked 9.9 ZFYVE26 SPG11 DDHD2
40 spinal muscular atrophy, distal, autosomal recessive, 4 9.9 SQSTM1 SPG11
41 spastic paraplegia 47, autosomal recessive 9.8 ZFYVE26 SPG11
42 vici syndrome 9.8 WDR45 TECPR2 SNX14 EPG5 ATG5
43 charcot-marie-tooth disease, x-linked recessive, 2 9.8 SMAD9 BSCL2
44 spastic paraplegia 35, autosomal recessive 9.8 ZFYVE26 WDR45 SPG11 DDHD2
45 spastic paraplegia 6, autosomal dominant 9.8 ZFYVE26 SPG11 BSCL2
46 spastic paraplegia 31, autosomal dominant 9.8 ZFYVE26 SPG11 BSCL2
47 spastic paraplegia 42, autosomal dominant 9.8 ZFYVE26 SPG11 BSCL2
48 neurodegeneration with brain iron accumulation 9.8 WDR45 TECPR2 SPG11 SNX14 EPG5
49 spastic paraplegia 8, autosomal dominant 9.8 ZFYVE26 SPG11 BSCL2
50 spastic paraplegia 10, autosomal dominant 9.8 ZFYVE26 SPG11 BSCL2

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



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 20

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 20

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 20:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
4 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
5 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
6 delayed fine motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0010862
7 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
8 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
9 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
10 macroglossia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000158
11 sensorineural hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000407
12 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
13 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
14 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
15 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
16 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
17 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004482
18 hypotonia 31 frequent (33%) HP:0001252
19 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
20 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
21 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
22 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
23 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
24 thickened calvaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002684
25 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
26 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
27 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
28 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
29 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
30 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
31 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
32 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
33 deep philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002002
34 oligosacchariduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0010471
35 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
36 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
37 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
38 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
39 broad philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000289
40 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
41 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
42 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
43 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
44 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
45 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
46 retrocerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0006951
47 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
48 spinal deformities 58 31 occasional (7.5%) Occasional (29-5%) HP:0008443
49 wide nasal base 58 31 occasional (7.5%) Occasional (29-5%) HP:0012810
50 facial hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002219

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
cerebellar hypoplasia
inability to walk
apraxia
more
Skeletal Feet:
talipes equinovarus
brachydactyly

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
autistic behavior

Head And Neck Mouth:
high-arched palate
thick lips
macroglossia (in some patients)

Head And Neck Head:
macrocephaly, relative

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Skin Nails Hair Hair:
hypertrichosis (in some patients)

Head And Neck Face:
coarse facial features
prominent forehead
long philtrum
broad philtrum
broad face

Head And Neck Teeth:
dental crowding
delayed tooth eruption

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
epicanthal folds
nystagmus (in some patients)
short palpebral fissures
fullness of the upper eyelid

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Nose:
upturned nares
broad nasal base
underdevelopment of the nasal alae

Clinical features from OMIM®:

616354 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ATG5 BSCL2 DDHD2 EPG5 SMAD9 SNX14
2 growth/size/body region MP:0005378 9.73 ACSL3 ANXA7 ATG5 BSCL2 EPG5 LAMP1
3 nervous system MP:0003631 9.44 ANXA7 ATG5 BSCL2 DDHD2 EPG5 LAMP1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 20

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 20

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 20

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 20:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 20 29 SNX14

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 20

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 20:

40
Cerebellum, Spinal Cord, Pons

Publications for Spinocerebellar Ataxia, Autosomal Recessive 20

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 20:

# Title Authors PMID Year
1
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. 57 6 61
27913285 2017
2
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 57 6
25848753 2015
3
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. 57 6
25439728 2014
4
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. 6 57
24501761 2014
5
Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 disease. 61
33310904 2020
6
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. 61
32792680 2020
7
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20. 61
33193593 2020
8
Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts. 61
30765438 2019
9
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. 61
29635513 2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 20

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 20:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNX14 NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) SNV Pathogenic 190314 rs876657385 GRCh37: 6:86223575-86223575
GRCh38: 6:85513857-85513857
2 SNX14 NM_153816.2(SNX14):c.1108+1181_2108-2342del Deletion Pathogenic 190315 GRCh37:
GRCh38:
3 SNX14 NM_153816.6(SNX14):c.645dup (p.Glu216fs) Duplication Pathogenic 190316 rs869320748 GRCh37: 6:86259586-86259587
GRCh38: 6:85549868-85549869
4 SNX14 NM_153816.6(SNX14):c.1894+1G>T SNV Pathogenic 190317 rs876657386 GRCh37: 6:86239909-86239909
GRCh38: 6:85530191-85530191
5 SNX14 NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) SNV Pathogenic 190318 rs786205229 GRCh37: 6:86253455-86253455
GRCh38: 6:85543737-85543737
6 SNX14 NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) SNV Pathogenic 190319 rs876657387 GRCh37: 6:86277285-86277285
GRCh38: 6:85567567-85567567
7 SNX14 NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) Insertion Pathogenic 375550 rs1057519561 GRCh37: 6:86243419-86243420
GRCh38: 6:85533701-85533702
8 SNX14 NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) SNV Pathogenic 268133 rs201128942 GRCh37: 6:86256830-86256830
GRCh38: 6:85547112-85547112
9 SNX14 NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) SNV Pathogenic 522726 rs760752847 GRCh37: 6:86282023-86282023
GRCh38: 6:85572305-85572305
10 SNX14 NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) Deletion Pathogenic 190320 rs774694340 GRCh37: 6:86217761-86217761
GRCh38: 6:85508043-85508043
11 SNX14 NM_153816.6(SNX14):c.1608+1G>T SNV Pathogenic 802248 rs749656742 GRCh37: 6:86246509-86246509
GRCh38: 6:85536791-85536791
12 SNX14 NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) SNV Pathogenic 373031 rs201128942 GRCh37: 6:86256830-86256830
GRCh38: 6:85547112-85547112
13 SNX14 NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) SNV Likely pathogenic 931533 GRCh37: 6:86252989-86252989
GRCh38: 6:85543271-85543271
14 SNX14 NM_153816.6(SNX14):c.1725del (p.Phe575fs) Deletion Likely pathogenic 800777 rs1311909367 GRCh37: 6:86243402-86243402
GRCh38: 6:85533684-85533684
15 SNX14 NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) SNV Likely pathogenic 635072 rs1562374476 GRCh37: 6:86282051-86282051
GRCh38: 6:85572333-85572333
16 SNX14 NM_153816.6(SNX14):c.1809A>G (p.Ala603=) SNV Uncertain significance 800741 rs1582696313 GRCh37: 6:86243318-86243318
GRCh38: 6:85533600-85533600
17 SNX14 NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) SNV Uncertain significance 1027831 GRCh37: 6:86223935-86223935
GRCh38: 6:85514217-85514217
18 SNX14 NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) SNV Uncertain significance 1027832 GRCh37: 6:86217757-86217757
GRCh38: 6:85508039-85508039
19 SNX14 NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) SNV Uncertain significance 1027833 GRCh37: 6:86257115-86257115
GRCh38: 6:85547397-85547397
20 SNX14 NM_153816.6(SNX14):c.119C>T (p.Ala40Val) SNV Uncertain significance 1031241 GRCh37: 6:86303318-86303318
GRCh38: 6:85593600-85593600
21 SNX14 NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) SNV Uncertain significance 1031242 GRCh37: 6:86303306-86303306
GRCh38: 6:85593588-85593588
22 SNX14 NM_153816.6(SNX14):c.140+9G>A SNV Uncertain significance 1031243 GRCh37: 6:86303288-86303288
GRCh38: 6:85593570-85593570
23 SNX14 NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) SNV Uncertain significance 548562 rs936843937 GRCh37: 6:86223898-86223898
GRCh38: 6:85514180-85514180
24 MT-CYB NC_012920.1:m.14771C>A SNV Uncertain significance 374216 rs1556424489 GRCh37: MT:14771-14771
GRCh38: MT:14771-14771
25 SNX14 NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) SNV Uncertain significance 1033174 GRCh37: 6:86223950-86223950
GRCh38: 6:85514232-85514232

Expression for Spinocerebellar Ataxia, Autosomal Recessive 20

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 20.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 20

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 SQSTM1 LAMP1 ATG5
2 10.82 SQSTM1 LAMP1 ATG5

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 20

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.13 ZFYVE26 WDR45 TECPR2 SQSTM1 SPG11 SNX19
2 lysosomal membrane GO:0005765 9.56 ZFYVE26 SPG11 SNX14 LAMP1
3 late endosome GO:0005770 9.54 SQSTM1 SNX14 LAMP1
4 phagophore assembly site GO:0000407 9.4 WDR45 SQSTM1
5 phagophore assembly site membrane GO:0034045 9.16 WDR45 ATG5
6 endosome GO:0005768 9.1 SQSTM1 SNX25 SNX19 SNX14 SNX13 LAMP1
7 autolysosome GO:0044754 8.96 SQSTM1 LAMP1

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.54 MT-CYB ANXA7 ACSL3
2 lipid droplet organization GO:0034389 9.32 DDHD2 BSCL2
3 autophagy of nucleus GO:0044804 9.26 WDR45 ATG5
4 aggrephagy GO:0035973 9.16 SQSTM1 ATG5
5 autophagy of mitochondrion GO:0000422 9.13 WDR45 SQSTM1 ATG5
6 autophagy GO:0006914 9.1 WDR45 TECPR2 SQSTM1 EPG5 ATG5 ANXA7

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.46 ZFYVE26 WDR45 SNX19 SNX13
2 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.26 WDR45 SNX14
3 phosphatidylinositol binding GO:0035091 9.26 SNX25 SNX19 SNX14 SNX13
4 phosphatidylinositol-3-phosphate binding GO:0032266 8.92 ZFYVE26 WDR45 SNX19 SNX13

Sources for Spinocerebellar Ataxia, Autosomal Recessive 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....