SCAR21
MCID: SPN381
MIFTS: 42

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 57 29 6
Scar21 57 12 59 75
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome 12 59
Spinocerebellar Ataxia, Autosomal Recessive 21, with Hepatopathy 57 75
Autosomal Recessive Spinocerebellar Ataxia 21 12 15
Autosomal Recessive Spinocerebellar Ataxia 21 with Hepatopathy 12
Autosomal Recessive Spinocerebellar Ataxia Type 21 59
Spinocerebellar Ataxia, Autosomal Recessive, 21 75

Characteristics:

OMIM:

57
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:

32
spinocerebellar ataxia, autosomal recessive 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 21

UniProtKB/Swiss-Prot : 75 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 spastic paraplegia 5a, autosomal recessive. 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 spasticity and hyperreflexia

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 : 57 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 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 17)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 10.1 CYP7B1 GBA2
2 spastic paraplegia 5a, autosomal recessive 10.0 CYP7B1 PNPLA6
3 spastic paraplegia 43, autosomal recessive 10.0 CYP7B1 PNPLA6
4 sjogren-larsson syndrome 10.0 FA2H PNPLA6
5 spastic paraplegia 24, autosomal recessive 9.9 CYP7B1 SPG7
6 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 FA2H PNPLA6
7 autosomal recessive cerebellar ataxia 9.9 GBA2 SPG7 UBA5
8 spastic paraplegia 15, autosomal recessive 9.9 FA2H SPG7
9 spastic ataxia 9.9 KIF1C SPG7
10 spastic paraparesis 9.8 FA2H SPG7
11 spinocerebellar ataxia 28 9.8 GRM1 SPG7
12 spasticity 9.8 CAPN1 SPG7
13 aceruloplasminemia 9.7 ATP13A2 FA2H GBA2 GRM1
14 paraplegia 9.6 CYP7B1 FA2H PNPLA6 SPG7
15 hereditary spastic paraplegia 9.1 ATP13A2 CAPN1 CYP7B1 FA2H GBA2 KIF1C
16 spastic paraplegia 73, autosomal dominant 8.3 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
17 spastic paraplegia 76, autosomal recessive 8.3 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 21:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001257
2 hyperreflexia 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001347
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 optic atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000648
5 intellectual disability, mild 59 32 occasional (7.5%) Frequent (79-30%) HP:0001256
6 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
7 hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001395
8 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
9 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
10 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
11 talipes equinovarus 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001762
12 acute hepatic failure 59 32 frequent (33%) Frequent (79-30%) HP:0006554
13 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
14 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
15 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
16 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
17 generalized limb muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009055
18 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
19 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
20 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
21 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
22 dysmetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000641
23 stuttering 59 32 frequent (33%) Frequent (79-30%) HP:0025268
24 tremor 32 HP:0001337
25 splenomegaly 32 HP:0001744
26 hepatomegaly 32 HP:0002240
27 peripheral neuropathy 59 Frequent (79-30%)
28 reduced visual acuity 59 Excluded (0%)
29 motor delay 32 HP:0001270
30 hepatic failure 32 HP:0001399
31 cerebellar atrophy 32 HP:0001272
32 sensorimotor neuropathy 32 HP:0007141
33 distal sensory impairment 32 HP:0002936

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ATP13A2 CPT1C FA2H GRM1 PNPLA6 SCYL1
2 homeostasis/metabolism MP:0005376 9.61 CAPN1 CPT1C CYP7B1 FA2H GBA2 GRM1
3 nervous system MP:0003631 9.23 ATP13A2 CPT1C FA2H GRM1 PNPLA6 SCYL1

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 29 SCYL1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 21

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

41
Liver, Spinal Cord, Cerebellum, Skin, Eye

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 GRCh38 Chromosome 11, 65535978: 65535978
2 SCYL1 NM_020680.3(SCYL1): c.1412C> T (p.Ala471Val) single nucleotide variant Likely pathogenic 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 9.93 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
2 endoplasmic reticulum membrane GO:0005789 9.43 CPT1C CYP7B1 FA2H GBA2 PLD3 PNPLA6
3 axon cytoplasm GO:1904115 9.26 KIF1C SPG7
4 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 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
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