MCID: HYP659
MIFTS: 18

Hypomyelinating Leukoencephalopathy

Categories: Neuronal diseases

Aliases & Classifications for Hypomyelinating Leukoencephalopathy

MalaCards integrated aliases for Hypomyelinating Leukoencephalopathy:

Name: Hypomyelinating Leukoencephalopathy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050987

Summaries for Hypomyelinating Leukoencephalopathy

MalaCards based summary : Hypomyelinating Leukoencephalopathy is related to leukodystrophy, hypomyelinating, 4 and leukodystrophy, hypomyelinating, 12. An important gene associated with Hypomyelinating Leukoencephalopathy is HIKESHI (Hikeshi, Heat Shock Protein Nuclear Import Factor), and among its related pathways/superpathways is Gap junction.

Related Diseases for Hypomyelinating Leukoencephalopathy

Graphical network of the top 20 diseases related to Hypomyelinating Leukoencephalopathy:



Diseases related to Hypomyelinating Leukoencephalopathy

Symptoms & Phenotypes for Hypomyelinating Leukoencephalopathy

Drugs & Therapeutics for Hypomyelinating Leukoencephalopathy

Search Clinical Trials , NIH Clinical Center for Hypomyelinating Leukoencephalopathy

Genetic Tests for Hypomyelinating Leukoencephalopathy

Anatomical Context for Hypomyelinating Leukoencephalopathy

Publications for Hypomyelinating Leukoencephalopathy

Articles related to Hypomyelinating Leukoencephalopathy:

# Title Authors Year
1
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. ( 28000699 )
2016
2
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. ( 24850488 )
2014
3
Hypomyelinating leukoencephalopathy. ( 23573409 )
2013
4
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers. ( 23349001 )
2013
5
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. ( 22232354 )
2012
6
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. ( 22036171 )
2011
7
Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. ( 21070704 )
2010
8
Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development. ( 17149740 )
2007
9
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. ( 16707726 )
2006

Variations for Hypomyelinating Leukoencephalopathy

Expression for Hypomyelinating Leukoencephalopathy

Search GEO for disease gene expression data for Hypomyelinating Leukoencephalopathy.

Pathways for Hypomyelinating Leukoencephalopathy

Pathways related to Hypomyelinating Leukoencephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 GJA1 TUBB4A

GO Terms for Hypomyelinating Leukoencephalopathy

Cellular components related to Hypomyelinating Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.26 GJA1 GJC2
2 connexin complex GO:0005922 9.16 GJA1 GJC2
3 DNA-directed RNA polymerase III complex GO:0005666 8.96 POLR3A POLR3B
4 myelin sheath GO:0043209 8.8 GJC2 PLP1 TUBB4A

Biological processes related to Hypomyelinating Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.58 GJA1 GJC2 PLP1
2 cellular response to heat GO:0034605 9.37 HIKESHI HSPA4
3 positive regulation of type I interferon production GO:0032481 9.32 POLR3A POLR3B
4 cell communication GO:0007154 9.26 GJA1 GJC2
5 transcription by RNA polymerase III GO:0006383 9.16 POLR3A POLR3B
6 positive regulation of interferon-beta production GO:0032728 8.96 POLR3A POLR3B
7 cell communication by electrical coupling GO:0010644 8.62 GJA1 GJC2

Molecular functions related to Hypomyelinating Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.32 POLR3A POLR3B
2 DNA-directed 5-3 RNA polymerase activity GO:0003899 9.26 POLR3A POLR3B
3 RNA polymerase III activity GO:0001056 9.16 POLR3A POLR3B
4 gap junction channel activity GO:0005243 8.96 GJA1 GJC2
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.62 GJA1 GJC2

Sources for Hypomyelinating Leukoencephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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