MCID: SPN325
MIFTS: 36

Spinocerebellar Ataxia, Autosomal Recessive 20

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Liver 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 59 75
Autosomal Recessive Spinocerebellar Ataxia 20 12 15
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 59
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 20 40
Autosomal Recessive Spinocerebellar Ataxia Type 20 59
Spinocerebellar Ataxia, Autosomal Recessive, 20 75

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
spinocerebellar ataxia, autosomal recessive 20:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 20

UniProtKB/Swiss-Prot : 75 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 autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 20 is SNX14 (Sorting Nexin 14). Affiliated tissues include cerebellum, spinal cord and t cells, and related phenotypes are clinodactyly and high palate

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)

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, 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

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 20 10.2
2 autosomal dominant cerebellar ataxia 10.2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 20

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly

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

Skeletal Feet:
brachydactyly
talipes equinovarus

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)

Neurologic Central Nervous System:
ataxia
spasticity
inability to walk
cerebellar hypoplasia
apraxia
more
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 20:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 high palate 32 HP:0000218
3 nystagmus 32 occasional (7.5%) HP:0000639
4 seizures 32 occasional (7.5%) HP:0001250
5 ataxia 32 HP:0001251
6 spasticity 32 HP:0001257
7 scoliosis 32 occasional (7.5%) HP:0002650
8 macroglossia 32 occasional (7.5%) HP:0000158
9 coarse facial features 32 HP:0000280
10 global developmental delay 32 HP:0001263
11 thick vermilion border 32 HP:0012471
12 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
13 anteverted nares 32 HP:0000463
14 prominent forehead 32 HP:0011220
15 long philtrum 32 HP:0000343
16 delayed eruption of teeth 32 HP:0000684
17 epicanthus 32 HP:0000286
18 babinski sign 32 HP:0003487
19 inability to walk 32 HP:0002540
20 cerebral cortical atrophy 32 HP:0002120
21 cerebellar hypoplasia 32 HP:0001321
22 apraxia 32 HP:0002186
23 dental crowding 32 HP:0000678
24 brachydactyly 32 HP:0001156
25 talipes equinovarus 32 HP:0001762
26 hyporeflexia 32 HP:0001265
27 cerebellar atrophy 32 HP:0001272
28 broad philtrum 32 HP:0000289
29 autistic behavior 32 HP:0000729
30 short palpebral fissure 32 HP:0012745
31 relative macrocephaly 32 HP:0004482
32 generalized hypotonia 32 HP:0001290
33 wide nasal base 32 HP:0012810
34 camptodactyly 32 HP:0012385
35 hypertrichosis 32 occasional (7.5%) HP:0000998
36 broad face 32 HP:0000283

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 20

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination CAR-T Cell Therapy Targeting Hematological Malignancies Recruiting NCT03125577 Phase 1, Phase 2

Search 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:

41
Cerebellum, Spinal Cord, T Cells

Publications for Spinocerebellar Ataxia, Autosomal Recessive 20

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 20:

# Title Authors Year
1
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )
2018
2
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. ( 27913285 )
2017

Variations for Spinocerebellar Ataxia, Autosomal Recessive 20

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

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNX14 NM_153816.5(SNX14): c.2596C> T (p.Gln866Ter) single nucleotide variant Pathogenic rs876657385 GRCh37 Chromosome 6, 86223575: 86223575
2 SNX14 NM_153816.5(SNX14): c.2596C> T (p.Gln866Ter) single nucleotide variant Pathogenic rs876657385 GRCh38 Chromosome 6, 85513857: 85513857
3 SNX14 NM_153816.2(SNX14): c.1108+1181_2108-2342del deletion Pathogenic
4 SNX14 NM_153816.5(SNX14): c.645dupA (p.Glu216Argfs) duplication Pathogenic rs869320748 GRCh37 Chromosome 6, 86259587: 86259587
5 SNX14 NM_153816.5(SNX14): c.645dupA (p.Glu216Argfs) duplication Pathogenic rs869320748 GRCh38 Chromosome 6, 85549869: 85549869
6 SNX14 NM_153816.5(SNX14): c.1894+1G> T single nucleotide variant Pathogenic rs876657386 GRCh38 Chromosome 6, 85530191: 85530191
7 SNX14 NM_153816.5(SNX14): c.1894+1G> T single nucleotide variant Pathogenic rs876657386 GRCh37 Chromosome 6, 86239909: 86239909
8 SNX14 NM_153816.5(SNX14): c.1132C> T (p.Arg378Ter) single nucleotide variant Pathogenic rs786205229 GRCh37 Chromosome 6, 86253455: 86253455
9 SNX14 NM_153816.5(SNX14): c.1132C> T (p.Arg378Ter) single nucleotide variant Pathogenic rs786205229 GRCh38 Chromosome 6, 85543737: 85543737
10 SNX14 NM_153816.5(SNX14): c.428T> A (p.Leu143Ter) single nucleotide variant Pathogenic rs876657387 GRCh37 Chromosome 6, 86277285: 86277285
11 SNX14 NM_153816.5(SNX14): c.428T> A (p.Leu143Ter) single nucleotide variant Pathogenic rs876657387 GRCh38 Chromosome 6, 85567567: 85567567
12 SNX14 NM_153816.5(SNX14): c.2670delT (p.Cys890Terfs) deletion Pathogenic rs774694340 GRCh37 Chromosome 6, 86217761: 86217761
13 SNX14 NM_153816.5(SNX14): c.2670delT (p.Cys890Terfs) deletion Pathogenic rs774694340 GRCh38 Chromosome 6, 85508043: 85508043
14 SNX14 NM_153816.5(SNX14): c.1108G> A (p.Glu370Lys) single nucleotide variant Pathogenic rs201128942 GRCh37 Chromosome 6, 86256830: 86256830
15 SNX14 NM_153816.5(SNX14): c.1108G> A (p.Glu370Lys) single nucleotide variant Pathogenic rs201128942 GRCh38 Chromosome 6, 85547112: 85547112
16 MT-CYB NC_012920.1: m.14771C> A single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 14771: 14771
17 MT-CYB NC_012920.1: m.14771C> A single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 14771: 14771
18 SNX14 NM_153816.5(SNX14): c.1707_1708insTTTTTTTTTTT (p.Pro570Phefs) insertion Pathogenic rs1057519561 GRCh37 Chromosome 6, 86243419: 86243420
19 SNX14 NM_153816.5(SNX14): c.1707_1708insTTTTTTTTTTT (p.Pro570Phefs) insertion Pathogenic rs1057519561 GRCh38 Chromosome 6, 85533701: 85533702
20 SNX14 NM_153816.5(SNX14): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs760752847 GRCh37 Chromosome 6, 86282023: 86282023
21 SNX14 NM_153816.5(SNX14): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs760752847 GRCh38 Chromosome 6, 85572305: 85572305

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

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 endosome GO:0005768 9.32 LAMP1 SNX14
2 dendrite GO:0030425 9.26 LAMP1 SNX14
3 lysosome GO:0005764 9.16 LAMP1 SNX14
4 lysosomal membrane GO:0005765 8.96 LAMP1 SNX14
5 late endosome GO:0005770 8.62 LAMP1 SNX14

Sources for Spinocerebellar Ataxia, Autosomal Recessive 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....