SCAR21
MCID: SPN381
MIFTS: 39

Spinocerebellar Ataxia, Autosomal Recessive 21 (SCAR21)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 21

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 21:

Name: Spinocerebellar Ataxia, Autosomal Recessive 21 58 30 6
Scar21 58 12 60 76
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome 12 60
Spinocerebellar Ataxia, Autosomal Recessive 21, with Hepatopathy 58 76
Autosomal Recessive Spinocerebellar Ataxia 21 12 15
Autosomal Recessive Spinocerebellar Ataxia 21 with Hepatopathy 12
Autosomal Recessive Spinocerebellar Ataxia Type 21 60
Spinocerebellar Ataxia, Autosomal Recessive, 21 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three patients from 2 unrelated families have been reported (last curated december 2015)
onset of episodic liver failure in first 2 years of life
liver failure episodes associated with fever
liver failure episodes cease in later childhood
onset of ataxia in early childhood


HPO:

33
spinocerebellar ataxia, autosomal recessive 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 21

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, 21: 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. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 21, also known as scar21, is related to spastic paraplegia 5a and spinocerebellar ataxia 21. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 21 is SCYL1 (SCY1 Like Pseudokinase 1). Affiliated tissues include liver, spinal cord and cerebellum, and related phenotypes are global developmental delay and intellectual disability, mild

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.

OMIM : 58 Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015). (616719)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 21

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 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 10.2 CYP7B1 GBA2
2 spinocerebellar ataxia 21 10.2 SCYL1 TMEM240
3 spastic paraplegia 5a, autosomal recessive 10.1 CYP7B1 PNPLA6
4 sjogren-larsson syndrome 10.1 FA2H PNPLA6
5 spastic paraplegia 43, autosomal recessive 10.1 CYP7B1 PNPLA6
6 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 FA2H PNPLA6
7 spastic paraplegia 24, autosomal recessive 9.9 CYP7B1 SPG7
8 spastic paraplegia 15, autosomal recessive 9.9 FA2H SPG7
9 autosomal recessive cerebellar ataxia 9.8 GBA2 SPG7 UBA5
10 spastic paraparesis 9.8 FA2H SPG7
11 spastic ataxia 9.8 KIF1C SPG7
12 spinocerebellar ataxia 28 9.7 GRM1 SPG7
13 aceruloplasminemia 9.7 ATP13A2 FA2H GBA2 GRM1
14 paraplegia 9.5 CYP7B1 FA2H PNPLA6 SPG7
15 spasticity 9.5 CAPN1 SPG7
16 hereditary spastic paraplegia 8.7 ATP13A2 CAPN1 CYP7B1 FA2H GBA2 KIF1C
17 spastic paraplegia 73, autosomal dominant 7.4 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
18 spastic paraplegia 76, autosomal recessive 7.4 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 21:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 21

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 21

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 21:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
2 intellectual disability, mild 60 33 occasional (7.5%) Frequent (79-30%) HP:0001256
3 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
4 hepatic fibrosis 60 33 frequent (33%) Frequent (79-30%) HP:0001395
5 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
6 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
7 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
8 acute hepatic failure 60 33 frequent (33%) Frequent (79-30%) HP:0006554
9 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
10 saccadic smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0001152
11 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
12 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
13 generalized limb muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009055
14 distal lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009053
15 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
16 sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0003474
17 hepatosplenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001433
18 dysmetric saccades 60 33 frequent (33%) Frequent (79-30%) HP:0000641
19 stuttering 60 33 frequent (33%) Frequent (79-30%) HP:0025268
20 spasticity 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001257
21 hyperreflexia 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001347
22 talipes equinovarus 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001762
23 optic atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000648
24 tremor 33 HP:0001337
25 splenomegaly 33 HP:0001744
26 hepatomegaly 33 HP:0002240
27 peripheral neuropathy 60 Frequent (79-30%)
28 reduced visual acuity 60 Excluded (0%)
29 motor delay 33 HP:0001270
30 hepatic failure 33 HP:0001399
31 cerebellar atrophy 33 HP:0001272
32 sensorimotor neuropathy 33 HP:0007141
33 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
tremor
cerebellar atrophy
frequent falls
delayed motor development
cerebellar ataxia
more
Abdomen Liver:
hepatomegaly
hepatic fibrosis
liver failure, episodic, during first decade

Skeletal Feet:
pes equinovarus (1 patient)

Muscle Soft Tissue:
muscle atrophy, upper and lower limbs
muscle weakness, distal, lower limbs, due to peripheral neuropathy

Abdomen Spleen:
splenomegaly

Neurologic Peripheral Nervous System:
hyporeflexia
sensorimotor neuropathy
distal sensory impairment

Head And Neck Eyes:
saccadic pursuit
cerebellar oculomotor disturbance
subclinical optic atrophy (1 family)
preserved vision

Clinical features from OMIM:

616719

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 21

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 21

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 21

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 21:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 21 30 SCYL1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 21

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 21:

42
Liver, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 21

Variations for Spinocerebellar Ataxia, Autosomal Recessive 21

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCYL1 NM_020680.3(SCYL1): c.1412C> T (p.Ala471Val) single nucleotide variant Likely pathogenic rs1554969894 GRCh38 Chromosome 11, 65535978: 65535978
2 SCYL1 NM_020680.3(SCYL1): c.1412C> T (p.Ala471Val) single nucleotide variant Likely pathogenic rs1554969894 GRCh37 Chromosome 11, 65303449: 65303449

Expression for Spinocerebellar Ataxia, Autosomal Recessive 21

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 21.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 21

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 21

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
2 endoplasmic reticulum membrane GO:0005789 9.43 CPT1C CYP7B1 FA2H GBA2 PLD3 PNPLA6
3 endoplasmic reticulum GO:0005783 9.17 CPT1C CYP7B1 FA2H GBA2 KIF1C PLD3

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.1 CPT1C CYP7B1 FA2H GBA2 PLD3 PNPLA6

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.1 ATP13A2 CAPN1 GBA2 PLD3 PNPLA6 SPG7

Sources for Spinocerebellar Ataxia, Autosomal Recessive 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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