MCID: HYP659
MIFTS: 18

Hypomyelinating Leukoencephalopathy

Categories: Genetic diseases, 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

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.

MalaCards based summary : Hypomyelinating Leukoencephalopathy is related to leukodystrophy, hypomyelinating, 4 and polr3-related leukodystrophy. An important gene associated with Hypomyelinating Leukoencephalopathy is GJC2 (Gap Junction Protein Gamma 2). Related phenotype is immune system.

Related Diseases for Hypomyelinating Leukoencephalopathy

Diseases related to Hypomyelinating Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 4 31.3 POLR3A PLP1 GJC2 FAM126A
2 polr3-related leukodystrophy 30.4 POLR3B POLR3A
3 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 30.0 POLR3B POLR3A GJC2
4 leukodystrophy, hypomyelinating, 2 30.0 PLP1 GJC2
5 pelizaeus-merzbacher-like disease 29.9 POLR3A PLP1 GJC2
6 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 29.7 POLR3B POLR3A PLP1 GJC2
7 leukodystrophy, hypomyelinating, 12 11.1
8 leukodystrophy, hypomyelinating, 13 11.1
9 pathologic nystagmus 10.3
10 spasticity 10.3
11 spastic ataxia 4 10.2 POLR3B POLR3A
12 boucher-neuhauser syndrome 10.1 POLR3B POLR3A
13 leukodystrophy, hypomyelinating, 10 10.1 POLR3B POLR3A
14 ataxia and polyneuropathy, adult-onset 10.1
15 spastic paraplegia 75, autosomal recessive 10.1 PLP1 GJC2
16 gordon holmes syndrome 10.1 POLR3B POLR3A
17 spastic paraplegia 44, autosomal recessive 10.0 PLP1 GJC2
18 treacher collins syndrome 1 10.0 POLR3B POLR3A
19 leukodystrophy, hypomyelinating, 9 10.0 POLR3A GJC2 FAM126A
20 3-methylglutaconic aciduria, type iii 10.0
21 pelizaeus-merzbacher disease 10.0
22 hypotonia 10.0
23 spastic paraplegia 2, x-linked 10.0 PLP1 GJC2
24 leukodystrophy, hypomyelinating, 5 9.9 PLP1 GJC2 FAM126A
25 spastic ataxia 9.9 POLR3A KIF1C GJC2
26 spastic ataxia 8 9.8 POLR3B POLR3A PLP1 GJC2
27 cerebral degeneration 9.8 POLR3B POLR3A PLP1 GJC2
28 leukoencephalopathy with vanishing white matter 9.8 POLR3B POLR3A PLP1 GJC2
29 hypomyelinating leukodystrophy 9.6 POLR3B POLR3A PLP1 GJC2 FAM126A
30 hereditary spastic paraplegia 9.5 PLP1 KIF1C GJC2
31 gastrointestinal defects and immunodeficiency syndrome 9.5 TTC7B TTC7A EFR3B
32 leukodystrophy 9.4 POLR3B POLR3A PLP1 HIKESHI GJC2 FAM126A

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



Diseases related to Hypomyelinating Leukoencephalopathy

Symptoms & Phenotypes for Hypomyelinating Leukoencephalopathy

MGI Mouse Phenotypes related to Hypomyelinating Leukoencephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.23 EFR3B FAM126A GJC2 HIKESHI KIF1C PLP1

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:

(show all 17)
# Title Authors PMID Year
1
The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates de novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation. 61
33535532 2021
2
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins. 61
31413903 2019
3
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. 61
28000699 2017
4
[Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports]. 61
27113066 2016
5
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 61
24974158 2015
6
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 61
24850488 2014
7
New mutation of pelizaeus--merzbacher-like disease; a report from iran. 61
25035705 2014
8
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers. 61
23349001 2013
9
Hypomyelinating leukoencephalopathy. 61
23573409 2013
10
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. 61
22232354 2012
11
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 61
22036171 2011
12
Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. 61
21070704 2010
13
New case of 4H syndrome and a review of the literature. 61
20399393 2010
14
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 61
19056803 2009
15
Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development. 61
17149740 2007
16
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. 61
16707726 2006
17
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. 61
16138252 2005

Variations for Hypomyelinating Leukoencephalopathy

Expression for Hypomyelinating Leukoencephalopathy

Search GEO for disease gene expression data for Hypomyelinating Leukoencephalopathy.

Pathways for Hypomyelinating Leukoencephalopathy

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 myelin sheath GO:0043209 8.96 PLP1 GJC2
2 RNA polymerase III complex GO:0005666 8.62 POLR3B POLR3A

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of type I interferon production GO:0032481 9.37 POLR3B POLR3A
2 protein localization to plasma membrane GO:0072659 9.35 TTC7B TTC7A FAM126B FAM126A EFR3B
3 myelination GO:0042552 9.32 PLP1 FAM126A
4 positive regulation of interferon-beta production GO:0032728 9.26 POLR3B POLR3A
5 positive regulation of calcium ion transmembrane transport GO:1904427 9.16 PLP1 GJC2
6 phosphatidylinositol phosphorylation GO:0046854 9.02 TTC7B TTC7A FAM126B FAM126A EFR3B

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.62 POLR3B POLR3A

Sources for Hypomyelinating Leukoencephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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