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 10.2
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. 61 24
29388673 2018
2
Expanding the genetic heterogeneity of intellectual disability. 24
28940097 2017
3
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. 24
28969374 2017
4
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 24
28575651 2017
5
Consensus statement on preventive and symptomatic care of leukodystrophy patients. 24
25577286 2015
6
The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineages. 24
21679462 2011
7
Exploring the homeobox. 24
7903947 1993
8
NKX6-2-Related Disorder 61
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 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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