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

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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

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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

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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:

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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

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Drugs & Therapeutics for Spastic Ataxia 8

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 8

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Genetic Tests for Spastic Ataxia 8

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Anatomical Context for Spastic Ataxia 8

MalaCards organs/tissues related to Spastic Ataxia 8:

⁴⁰

Eye

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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

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Genes for Spastic Ataxia 8

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

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NKX6-2	NK6 Homeobox 2	Protein Coding	23.65	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	MEOX1	Mesenchyme Homeobox 1	Protein Coding	5.8	DISEASES inferred ¹⁵
3	POLR3B	RNA Polymerase III Subunit B	Protein Coding	5.78	DISEASES inferred ¹⁵
4	POLR3A	RNA Polymerase III Subunit A	Protein Coding	5.55	DISEASES inferred ¹⁵
5	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	5.42	DISEASES inferred ¹⁵
6	GJC2	Gap Junction Protein Gamma 2	Protein Coding	5.42	DISEASES inferred ¹⁵
7	CKM	Creatine Kinase, M-Type	Protein Coding	5.12	DISEASES inferred ¹⁵
8	OTX2	Orthodenticle Homeobox 2	Protein Coding	4.74	DISEASES inferred ¹⁵
9	PLP1	Proteolipid Protein 1	Protein Coding	4.62	DISEASES inferred ¹⁵
10	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	4.42	DISEASES inferred ¹⁵
11	PAX6	Paired Box 6	Protein Coding	4.16	DISEASES inferred ¹⁵
12	MAF	MAF BZIP Transcription Factor	Protein Coding	3.89	DISEASES inferred ¹⁵

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Variations for Spastic Ataxia 8

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Expression for Spastic Ataxia 8

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

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Pathways for Spastic Ataxia 8

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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

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Sources for Spastic Ataxia 8

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