SPAX8
MCID: NKX002
MIFTS: 8

Nkx6-2-Related Disorder (SPAX8)

Aliases & Classifications for Nkx6-2-Related Disorder

MalaCards integrated aliases for Nkx6-2-Related Disorder:

Name: Nkx6-2-Related Disorder 24
Nkx6-2-Related Spastic Ataxia with Hypomyelination 24
Spax8 24

Summaries for Nkx6-2-Related Disorder

MalaCards based summary : Nkx6-2-Related Disorder, also known as nkx6-2-related spastic ataxia with hypomyelination, is related to pathologic nystagmus and ataxia and polyneuropathy, adult-onset. An important gene associated with Nkx6-2-Related Disorder is NKX6-2 (NK6 Homeobox 2).

GeneReviews: NBK531509

Related Diseases for Nkx6-2-Related Disorder

Diseases related to Nkx6-2-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 10.3
2 ataxia and polyneuropathy, adult-onset 10.1
3 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 10.1
4 spastic ataxia 10.1
5 scoliosis 10.1
6 leukodystrophy 10.1
7 quadriplegia 10.1
8 hypotonia 10.1
9 spasticity 10.1

Graphical network of the top 20 diseases related to Nkx6-2-Related Disorder:



Diseases related to Nkx6-2-Related Disorder

Symptoms & Phenotypes for Nkx6-2-Related Disorder

Drugs & Therapeutics for Nkx6-2-Related Disorder

Search Clinical Trials , NIH Clinical Center for Nkx6-2-Related Disorder

Genetic Tests for Nkx6-2-Related Disorder

Anatomical Context for Nkx6-2-Related Disorder

Publications for Nkx6-2-Related Disorder

Articles related to Nkx6-2-Related Disorder:

# Title Authors PMID Year
1
Expanding the clinical and genetic spectra of NKX6-2-related disorder. 38 4
29388673 2018
2
Expanding the genetic heterogeneity of intellectual disability. 4
28940097 2017
3
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. 4
28969374 2017
4
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 4
28575651 2017
5
Consensus statement on preventive and symptomatic care of leukodystrophy patients. 4
25577286 2015
6
The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineages. 4
21679462 2011
7
Exploring the homeobox. 4
7903947 1993
8
NKX6-2-Related Disorder 38
30285346 2018

Variations for Nkx6-2-Related Disorder

Expression for Nkx6-2-Related Disorder

Search GEO for disease gene expression data for Nkx6-2-Related Disorder.

Pathways for Nkx6-2-Related Disorder

GO Terms for Nkx6-2-Related Disorder

Sources for Nkx6-2-Related Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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