SCAR3
MCID: SPN295
MIFTS: 24

Spinocerebellar Ataxia, Autosomal Recessive 3 (SCAR3) malady

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 3

Aliases & Descriptions for Spinocerebellar Ataxia, Autosomal Recessive 3:

Name: Spinocerebellar Ataxia, Autosomal Recessive 3 54 13 69
Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome 50 56
Scar3 50 56
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness 50
Spinocerebellar Ataxia with Blindness and Deafness 50
Spinocerebellar Ataxia Autosomal Recessive 3 50

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive cerebellar ataxia-blindness-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 271250
Orphanet 56 ORPHA95433
ICD10 via Orphanet 34 G11.1

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 3

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 3, also known as autosomal recessive cerebellar ataxia-blindness-deafness syndrome, is related to hermansky-pudlak syndrome 7, and has symptoms including ataxia, hearing impairment and blindness. 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.

Description from OMIM: 271250

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 3

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 7 9.6 PEX6 SCAR3 SLC52A2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 3

Symptoms by clinical synopsis from OMIM:

271250

Clinical features from OMIM:

271250

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 3:

32
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 hearing impairment 32 HP:0000365
3 blindness 32 HP:0000618
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 29)
id 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 657311
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
4
Butyric Acid Experimental Phase 4 107-92-6 264
5 Anti-Infective Agents Phase 4
6 Anti-Infective Agents, Local Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Antioxidants Phase 4
9 Central Nervous System Depressants Phase 4
10 Cortisol succinate Phase 4
11 Hydrocortisone 17-butyrate 21-propionate Phase 4
12 Hydrocortisone acetate Phase 4
13 Hydrocortisone-17-butyrate Phase 4
14 Micronutrients Phase 4
15 Protective Agents Phase 4,Phase 2,Phase 3
16 Tocopherols Phase 4
17 Tocotrienols Phase 4
18 Trace Elements Phase 4
19 Vitamins Phase 4
20 Tocopherol Nutraceutical Phase 4
21 Tocotrienol Nutraceutical Phase 4
22
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
23 Anticonvulsants Phase 2, Phase 3
24 Excitatory Amino Acid Antagonists Phase 2, Phase 3
25 Excitatory Amino Acids Phase 2, Phase 3
26 Neuroprotective Agents Phase 2, Phase 3
27 Neurotransmitter Agents Phase 2, Phase 3
28 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
29 Vaccines Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
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
2 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
3 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
4 10 600 nm Ablative Fractional Laser Treatment of Scars: a Prospective Single Blinded Within Patient Controlled Randomized Trial Unknown status NCT01639105
5 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
6 Set-back Suture Versus Traditional Vertical Mattress Suture Completed NCT01773447
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 3

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....