MCID: SPN295
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive 3

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 3

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 3:

Name: Spinocerebellar Ataxia, Autosomal Recessive 3 57 13 73
Scar3 57 53 59
Scabd 57 53 59
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome 53 59
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome 53 59
Spinocerebellar Ataxia with Blindness and Deafness 57 53
Autosomal Recessive Spinocerebellar Ataxia Type 3 53 59
Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome 53
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness 53
Spinocerebellar Ataxia with Blindness and Deafness; Scabd 57
Spinocerebellar Ataxia Autosomal Recessive 3 53

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinocerebellar ataxia, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 271250
Orphanet 59 ORPHA95433
UMLS via Orphanet 74 C1849094
ICD10 via Orphanet 34 G11.1
MedGen 42 C1849094
UMLS 73 C1849094

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 3

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 3, also known as scar3, is related to autosomal dominant cerebellar ataxia and trehalase deficiency. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 3 is SLC52A2 (Solute Carrier Family 52 Member 2). The drugs Ethanol and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are hearing impairment and blindness

Description from OMIM: 271250

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 10.0
2 trehalase deficiency 9.0 PEX6 SLC52A2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
cochlear degeneration
deafness

Neurologic Central Nervous System:
spinocerebellar ataxia

Head And Neck Eyes:
optic degeneration
blindness


Clinical features from OMIM:

271250

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 3:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 blindness 32 HP:0000618
3 ataxia 32 HP:0001251
4 cochlear degeneration 32 HP:0005102

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 3

Drugs for Spinocerebellar Ataxia, Autosomal Recessive 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
3
Tocopherol Approved, Investigational, Nutraceutical Phase 4 1406-66-2 14986
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
5
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
6 Anti-Infective Agents Phase 4
7 Anti-Infective Agents, Local Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Antioxidants Phase 4
10 Central Nervous System Depressants Phase 4
11 Cortisol succinate Phase 4
12 Hydrocortisone 17-butyrate 21-propionate Phase 4
13 Hydrocortisone acetate Phase 4
14 Hydrocortisone-17-butyrate Phase 4
15 Micronutrients Phase 4
16 Protective Agents Phase 4
17 Tocopherols Phase 4
18 Tocotrienols Phase 4
19 Trace Elements Phase 4
20 Vitamins Phase 4
21 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Comparative Study Evaluating the Tolerability and Efficacy of Two Topical Therapies for the Treatment of Keloids and Hypertrophic Scars Completed NCT00754247 Phase 4 0.5% hydrocortisone, silicone, vitamin E lotion;Onion extract gel;Cetearyl alcohol lotion
2 10 600 nm Ablative Fractional Laser Treatment of Scars: a Prospective Single Blinded Within Patient Controlled Randomized Trial Unknown status NCT01639105 Not Applicable
3 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
4 Set-back Suture Versus Traditional Vertical Mattress Suture Completed NCT01773447 Not Applicable
5 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
6 Assessment of Fractional CO2 Laser in Treatment of Post-surgical Scarring of Cleft Lip Not yet recruiting NCT03277287 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 3

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 3

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 3

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 3:

41
Skin

Publications for Spinocerebellar Ataxia, Autosomal Recessive 3

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 3:

# Title Authors Year
1
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). ( 26669662 )
2016

Variations for Spinocerebellar Ataxia, Autosomal Recessive 3

Expression for Spinocerebellar Ataxia, Autosomal Recessive 3

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 3.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 3

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 3

Sources for Spinocerebellar Ataxia, Autosomal Recessive 3

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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