MCID: SPS229
MIFTS: 21

Spastic Ataxia 8

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 8

MalaCards integrated aliases for Spastic Ataxia 8:

Name: Spastic Ataxia 8 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080252

Summaries for Spastic Ataxia 8

Disease Ontology : 12 A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has material basis in homozygous mutation in the NKX6-2 gene on chromosome 8q21.

MalaCards based summary : Spastic Ataxia 8 is related to spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy and spastic ataxia 4. An important gene associated with Spastic Ataxia 8 is NKX6-2 (NK6 Homeobox 2). Affiliated tissues include eye, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Spastic Ataxia 8

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive Spastic Ataxia 1
Spastic Ataxia 2 Spastic Ataxia 3
Spastic Ataxia 4 Spastic Ataxia 5
Spastic Ataxia 7 Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia Autosomal Recessive Spastic Ataxia

Diseases related to Spastic Ataxia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 11.7
2 spastic ataxia 4 10.2 POLR3B POLR3A
3 polr3-related leukodystrophy 10.2 POLR3B POLR3A
4 boucher-neuhauser syndrome 10.2 POLR3B POLR3A
5 leukodystrophy, hypomyelinating, 10 10.2 POLR3B POLR3A
6 leukodystrophy, hypomyelinating, 9 10.2 POLR3A GJC2
7 gordon holmes syndrome 10.1 POLR3B POLR3A
8 spastic ataxia 10.1 POLR3A NKX6-2 GJC2
9 spastic paraplegia 75, autosomal recessive 10.1 PLP1 GJC2
10 leukodystrophy, hypomyelinating, 5 10.1 PLP1 GJC2
11 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.0 POLR3B POLR3A GJC2
12 spastic paraplegia 44, autosomal recessive 10.0 PLP1 GJC2
13 leukodystrophy, hypomyelinating, 2 10.0 PLP1 GJC2
14 pelizaeus-merzbacher-like disease 9.9 POLR3A PLP1 GJC2
15 leukodystrophy, hypomyelinating, 4 9.9 POLR3A PLP1 GJC2
16 torsion dystonia 4 9.9 TUBB4A PLP1
17 megalencephalic leukoencephalopathy with subcortical cysts 2a 9.9 TUBB4A PLP1
18 microphthalmia, syndromic 8 9.9 PAX6 OTX2
19 fryns microphthalmia syndrome 9.9 PAX6 OTX2
20 microphthalmia, isolated 3 9.9 PAX6 OTX2
21 macular degeneration, age-related, 7 9.9 PAX6 OTX2
22 microphthalmia, isolated 2 9.8 PAX6 OTX2
23 aniseikonia 9.8 PAX6 MAF
24 vitreous disease 9.8 PAX6 OTX2
25 iris disease 9.8 PAX6 OTX2
26 hypomyelinating leukoencephalopathy 9.8 POLR3B POLR3A PLP1 GJC2
27 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.8 POLR3B POLR3A PLP1 GJC2
28 microphthalmia, syndromic 3 9.8 PAX6 OTX2
29 cerebral degeneration 9.8 POLR3B POLR3A PLP1 GJC2
30 leukoencephalopathy with vanishing white matter 9.8 POLR3B POLR3A PLP1 GJC2
31 syndromic microphthalmia 9.8 PAX6 OTX2
32 esotropia 9.7 PAX6 OTX2
33 persistent hyperplastic primary vitreous 9.6 PAX6 OTX2
34 aniridia 1 9.6 PAX6 OTX2 MAF
35 anterior segment dysgenesis 9.6 PAX6 OTX2 MAF
36 benign epilepsy with centrotemporal spikes 9.6 PAX6 MAF CLCN2
37 coloboma of macula 9.5 PAX6 OTX2 MAF
38 amblyopia 9.5 PAX6 OTX2
39 hypomyelinating leukodystrophy 9.3 TUBB4A POLR3B POLR3A PLP1 NKX6-2 GJC2
40 leukodystrophy 9.1 TUBB4A POLR3B POLR3A PLP1 NKX6-2 GJC2
41 disease of mental health 8.6 TUBB4A PLP1 PAX6 OTX2 MAF GJC2

Graphical network of the top 20 diseases related to Spastic Ataxia 8:



Diseases related to Spastic Ataxia 8

Symptoms & Phenotypes for Spastic Ataxia 8

MGI Mouse Phenotypes related to Spastic Ataxia 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CLCN2 GJC2 MAF NKX6-2 OTX2 PAX6
2 growth/size/body region MP:0005378 9.97 CKM MAF MEOX1 OTX2 PAX6 PLP1
3 mortality/aging MP:0010768 9.96 GJC2 MAF MEOX1 NKX6-2 OTX2 PAX6
4 nervous system MP:0003631 9.65 CLCN2 GJC2 MAF MEOX1 NKX6-2 OTX2
5 muscle MP:0005369 9.63 CKM MEOX1 OTX2 PAX6 PLP1 TUBB4A
6 vision/eye MP:0005391 9.17 CLCN2 GJC2 MAF NKX6-2 OTX2 PAX6

Drugs & Therapeutics for Spastic Ataxia 8

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 8

Genetic Tests for Spastic Ataxia 8

Anatomical Context for Spastic Ataxia 8

MalaCards organs/tissues related to Spastic Ataxia 8:

40
Eye

Publications for Spastic Ataxia 8

Articles related to Spastic Ataxia 8:

# Title Authors PMID Year
1
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. 61
31509304 2020

Variations for Spastic Ataxia 8

Expression for Spastic Ataxia 8

Search GEO for disease gene expression data for Spastic Ataxia 8.

Pathways for Spastic Ataxia 8

GO Terms for Spastic Ataxia 8

Cellular components related to Spastic Ataxia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.55 PAX6 OTX2 NKX6-2 MEOX1 MAF
2 RNA polymerase III complex GO:0005666 8.96 POLR3B POLR3A
3 myelin sheath GO:0043209 8.8 TUBB4A PLP1 GJC2

Biological processes related to Spastic Ataxia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.46 PLP1 PAX6 MAF GJC2
2 lens development in camera-type eye GO:0002088 9.32 PAX6 MAF
3 positive regulation of interferon-beta production GO:0032728 9.26 POLR3B POLR3A
4 central nervous system myelination GO:0022010 8.96 PLP1 NKX6-2
5 positive regulation of calcium ion transmembrane transport GO:1904427 8.62 PLP1 GJC2

Molecular functions related to Spastic Ataxia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.83 PAX6 OTX2 NKX6-2 MEOX1 MAF
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 PAX6 OTX2 NKX6-2 MEOX1 MAF
3 DNA binding GO:0003677 9.7 POLR3B POLR3A PAX6 OTX2 NKX6-2 MEOX1
4 sequence-specific DNA binding GO:0043565 9.67 PAX6 NKX6-2 MEOX1 MAF
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 PAX6 OTX2 MEOX1 MAF
6 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.46 POLR3B POLR3A
7 DNA-binding transcription factor activity GO:0003700 9.35 PAX6 OTX2 NKX6-2 MEOX1 MAF
8 HMG box domain binding GO:0071837 9.26 PAX6 MEOX1
9 sequence-specific double-stranded DNA binding GO:1990837 9.02 PAX6 OTX2 NKX6-2 MEOX1 MAF

Sources for Spastic Ataxia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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