MCID: SPN313
MIFTS: 29

Spinocerebellar Ataxia, Autosomal Recessive 6

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 6

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 6:

Name: Spinocerebellar Ataxia, Autosomal Recessive 6 57 13 73
Scar6 57 53 59
Norwegian Infantile Onset Ataxia 57 53
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia 59
Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive 57
Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive 53
Autosomal Recessive Spinocerebellar Ataxia Type 6 59
Spinocerebellar Ataxia Autosomal Recessive 6 53

Characteristics:

Orphanet epidemiological data:

59
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
nonprogressive


HPO:

32
spinocerebellar ataxia, autosomal recessive 6:
Onset and clinical course congenital onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
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 clumsiness, action tremor and cerebellar signs. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 6 is SCAR6 (Spinocerebellar Ataxia, Autosomal Recessive 6). The drugs Cefixime and Ceftriaxone have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are spasticity and dysarthria

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, 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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 6:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
6 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
7 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
8 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
9 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
10 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
11 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
12 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
13 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
14 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
15 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
18 broad-based gait 59 32 frequent (33%) Frequent (79-30%) HP:0002136
19 ataxia 32 HP:0001251
20 muscular hypotonia 32 HP:0001252
21 gait ataxia 32 HP:0002066
22 motor delay 32 HP:0001270

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 6:


clumsiness, action tremor, cerebellar signs, gait ataxia

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefixime Approved, Investigational Phase 4 79350-37-1 54362 5362065
2
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
3 Anti-Bacterial Agents Phase 4
4 Antibiotics, Antitubercular Phase 4
5 Anti-Infective Agents Phase 4
6 Antitubercular Agents Phase 4
7
Menthol Approved Not Applicable 2216-51-5 16666
8
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 Completed NCT02493062 Not Applicable
5 A Prospective Study Comparing Single and Multiport Laparoscopic Inguinal Hernia Repair Completed NCT01660048 Not Applicable
6 Impact of Early Post-Operative Water Exposure on Complications of Cutaneous Surgeries Recruiting NCT01773694 Not Applicable
7 Postoperative Pain and Skin Closure Methods After Cesarean Section Terminated NCT02028000 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:

41
Skin

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 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
Content
Loading form....