SCAR6
MCID: SPN313
MIFTS: 29

Spinocerebellar Ataxia, Autosomal Recessive 6 (SCAR6)

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 6

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 6:

Name: Spinocerebellar Ataxia, Autosomal Recessive 6 58 13 74
Scar6 58 54 60
Norwegian Infantile Onset Ataxia 58 54
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia 60
Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive 58
Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive 54
Autosomal Recessive Spinocerebellar Ataxia Type 6 60
Spinocerebellar Ataxia Autosomal Recessive 6 54

Characteristics:

Orphanet epidemiological data:

60
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
nonprogressive


HPO:

33
spinocerebellar ataxia, autosomal recessive 6:
Onset and clinical course congenital onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 6

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 6, is also known as scar6, and has symptoms including gait ataxia, clumsiness and action tremor. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 6 is SCAR6 (Spinocerebellar Ataxia, Autosomal Recessive 6). The drugs Ceftriaxone and Cefixime have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are progressive cerebellar ataxia and spasticity

Description from OMIM: 608029

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 6

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 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, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 6

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 6:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
3 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
7 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
8 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
9 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
10 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
11 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
12 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
13 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
14 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
15 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
16 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
17 broad-based gait 60 33 frequent (33%) Frequent (79-30%) HP:0002136
18 intention tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002080
19 ataxia 33 HP:0001251
20 muscular hypotonia 33 HP:0001252
21 gait ataxia 33 HP:0002066
22 motor delay 33 HP:0001270

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
gait ataxia
dysmetria
intention tremor
clumsiness
more
Growth Height:
short stature

Skeletal Feet:
pes planus

Clinical features from OMIM:

608029

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 6:


gait ataxia, clumsiness, action tremor, cerebellar signs

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 6

Drugs for Spinocerebellar Ataxia, Autosomal Recessive 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
2
Cefixime Approved, Investigational Phase 4 79350-37-1 5362065 54362
3 Anti-Bacterial Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Antitubercular Agents Phase 4
7
Petrolatum Approved, Investigational Not Applicable 8009-03-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Acute Pyelonephritis With Gram Negative Strains in Infants and Children Less Than 3 Years Old Completed NCT00136656 Phase 4 antibiotic;antibiotics
2 A Prospective Study Comparing Telescopic vs. Balloon Dissection in Single Incision Laparoscopic Inguinal Herniorraphy (SILTELESCOPIC) Unknown status NCT01883115
3 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
4 Evaluation of Hysterotomy Site After Open Fetal Surgery Terminated NCT02493062 Not Applicable
5 Postoperative Pain and Skin Closure Methods After Cesarean Section Terminated NCT02028000 Not Applicable
6 Impact of Early Post-Operative Water Exposure on Complications of Cutaneous Surgeries Recruiting NCT01773694 Not Applicable
7 A Prospective Study Comparing Single and Multiport Laparoscopic Inguinal Hernia Repair Completed NCT01660048 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 6

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 6

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 6

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 6:

42
Skin, Liver, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 6

Variations for Spinocerebellar Ataxia, Autosomal Recessive 6

Expression for Spinocerebellar Ataxia, Autosomal Recessive 6

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 6.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 6

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 6

Sources for Spinocerebellar Ataxia, Autosomal Recessive 6

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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