Spastic Ataxia 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Spastic Ataxia 8

MalaCards integrated aliases for Spastic Ataxia 8:

Name: Spastic Ataxia 8 ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080252

Sources

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

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Spastic Ataxia 8

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 8

Sources

Genetic Tests for Spastic Ataxia 8

Sources

Anatomical Context for Spastic Ataxia 8

Sources

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	Chelban V...Kaya N	31509304	2020

Sources

Genes for Spastic Ataxia 8

Genes related to Spastic Ataxia 8 (0 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NKX6-2	NK6 Homeobox 2	Protein Coding	23.68	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	MEOX1	Mesenchyme Homeobox 1	Protein Coding	5.86	DISEASES inferred ¹⁵
3	POLR3B	RNA Polymerase III Subunit B	Protein Coding	5.81	DISEASES inferred ¹⁵
4	GJC2	Gap Junction Protein Gamma 2	Protein Coding	5.48	DISEASES inferred ¹⁵
5	POLR3A	RNA Polymerase III Subunit A	Protein Coding	5.48	DISEASES inferred ¹⁵
6	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	5.45	DISEASES inferred ¹⁵
7	CKM	Creatine Kinase, M-Type	Protein Coding	5.16	DISEASES inferred ¹⁵
8	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	4.82	DISEASES inferred ¹⁵
9	OTX2	Orthodenticle Homeobox 2	Protein Coding	4.8	DISEASES inferred ¹⁵
10	PLP1	Proteolipid Protein 1	Protein Coding	4.67	DISEASES inferred ¹⁵
11	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	4.45	DISEASES inferred ¹⁵
12	PAX6	Paired Box 6	Protein Coding	4.21	DISEASES inferred ¹⁵
13	MAF	MAF BZIP Transcription Factor	Protein Coding	3.94	DISEASES inferred ¹⁵

Sources

Variations for Spastic Ataxia 8

Sources

Expression for Spastic Ataxia 8

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

Sources

Pathways for Spastic Ataxia 8

Sources

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

Sources for Spastic Ataxia 8

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia