MCID: SPS229
MIFTS: 19

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

MalaCards based summary : Spastic Ataxia 8 is related to spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy and polr3-related leukodystrophy. An important gene associated with Spastic Ataxia 8 is NKX6-2 (NK6 Homeobox 2). Related phenotypes are mortality/aging and nervous system

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 36)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.7
2 polr3-related leukodystrophy 10.3 POLR3B POLR3A
3 spastic ataxia 4 10.3 POLR3B POLR3A
4 hallermann-streiff syndrome 10.3 POLR3A GJC2
5 leukodystrophy, hypomyelinating, 9 10.3 POLR3A GJC2
6 leukodystrophy, hypomyelinating, 10 10.2 POLR3B POLR3A
7 spastic ataxia 10.1 POLR3A NKX6-2 GJC2
8 pelizaeus-merzbacher-like disease 10.1 PLP1 GJC2
9 spastic paraplegia 75, autosomal recessive 10.1 PLP1 GJC2
10 leukodystrophy, hypomyelinating, 5 10.1 PLP1 GJC2
11 spastic paraplegia 44, autosomal recessive 10.1 PLP1 GJC2
12 leukodystrophy, hypomyelinating, 2 10.0 PLP1 GJC2
13 spastic paraplegia 2, x-linked 10.0 PLP1 GJC2
14 dystonia 11, myoclonic 9.9 POLR3B POLR3A
15 leukodystrophy, hypomyelinating, 4 9.9 POLR3A PLP1 GJC2
16 megalencephalic leukoencephalopathy with subcortical cysts 2a 9.8 TUBB4A PLP1
17 fryns microphthalmia syndrome 9.8 PAX6 OTX2
18 gordon holmes syndrome 9.8 POLR3B POLR3A
19 microphthalmia, isolated 3 9.8 PAX6 OTX2
20 macular degeneration, age-related, 7 9.7 PAX6 OTX2
21 microphthalmia, isolated 2 9.7 PAX6 OTX2
22 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.7 POLR3B POLR3A PLP1 GJC2
23 hypomyelinating leukoencephalopathy 9.7 POLR3B POLR3A PLP1 GJC2
24 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.7 POLR3B POLR3A PLP1 GJC2
25 cerebral degeneration 9.7 POLR3B POLR3A PLP1 GJC2
26 leukoencephalopathy with vanishing white matter 9.7 POLR3B POLR3A PLP1 GJC2
27 vitreous disease 9.7 PAX6 OTX2
28 syndromic microphthalmia 9.6 PAX6 OTX2
29 iris disease 9.6 PAX6 OTX2
30 axenfeld-rieger syndrome, type 3 9.6 PAX6 MAF
31 persistent hyperplastic primary vitreous 9.6 PAX6 OTX2
32 colobomatous microphthalmia 9.5 PAX6 OTX2
33 aniridia 1 9.4 PAX6 OTX2 MAF
34 coloboma of macula 9.3 PAX6 OTX2 MAF
35 hypomyelinating leukodystrophy 9.1 TUBB4A POLR3B POLR3A PLP1 NKX6-2 GJC2
36 leukodystrophy 8.8 TUBB4A POLR3B POLR3A PLP1 NKX6-2 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.02 CSNK2A1 GJC2 MAF MEOX1 NKX6-2 OTX2
2 nervous system MP:0003631 9.85 CLCN2 CSNK2A1 GJC2 MAF MEOX1 NKX6-2
3 muscle MP:0005369 9.73 CKM CSNK2A1 MEOX1 OTX2 PAX6 PLP1
4 pigmentation MP:0001186 9.26 CLCN2 CSNK2A1 OTX2 PAX6
5 vision/eye MP:0005391 9.23 CLCN2 CSNK2A1 GJC2 MAF NKX6-2 OTX2

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

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 nuclear chromatin GO:0000790 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 transcription by RNA polymerase II GO:0045944 9.77 PAX6 OTX2 NKX6-2 MEOX1 MAF
2 positive regulation of gene expression GO:0010628 9.56 PLP1 PAX6 MAF GJC2
3 lens development in camera-type eye GO:0002088 9.4 PAX6 MAF
4 positive regulation of interferon-beta production GO:0032728 9.32 POLR3B POLR3A
5 central nervous system myelination GO:0022010 9.16 PLP1 NKX6-2
6 regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification GO:0021913 8.96 PAX6 NKX6-2
7 regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification GO:0021912 8.62 PAX6 NKX6-2

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 GO:0003700 9.8 PAX6 OTX2 NKX6-2 MEOX1 MAF
2 DNA binding GO:0003677 9.8 POLR3B POLR3A PAX6 OTX2 NKX6-2 MEOX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 PAX6 OTX2 NKX6-2 MEOX1 MAF
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.67 PAX6 OTX2 MEOX1 MAF
5 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.43 POLR3B POLR3A
6 sequence-specific DNA binding GO:0043565 9.35 PAX6 OTX2 NKX6-2 MEOX1 MAF
7 HMG box domain binding GO:0071837 9.16 PAX6 MEOX1
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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