MCID: HYP700
MIFTS: 31

Hypomyelinating Leukodystrophy

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Hypomyelinating Leukodystrophy

MalaCards integrated aliases for Hypomyelinating Leukodystrophy:

Name: Hypomyelinating Leukodystrophy 12 37 29 15
Hld 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060786
KEGG 37 H00679

Summaries for Hypomyelinating Leukodystrophy

Disease Ontology : 12 A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system.

MalaCards based summary : Hypomyelinating Leukodystrophy, also known as hld, is related to leukodystrophy, hypomyelinating, 6 and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism. An important gene associated with Hypomyelinating Leukodystrophy is POLR3B (RNA Polymerase III Subunit B), and among its related pathways/superpathways is Epstein-Barr virus infection. Affiliated tissues include kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Hypomyelinating Leukodystrophy

Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 3 Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 6 Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypomyelinating, 10 Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Hypomyelinating, 12 Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Hypomyelinating, 14 Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Hypomyelinating, 16 Leukodystrophy, Hypomyelinating, 17

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 6 33.8 FAM126A TUBB4A
2 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 33.6 AIMP1 POLR3A
3 leukodystrophy, hypomyelinating, 3 33.4 AIMP1 POLR3A
4 leukodystrophy, hypomyelinating, 5 32.8 FAM126A PLP1 TUBB4A
5 leukodystrophy, hypomyelinating, 4 32.7 GJC2 HSPD1 PLP1
6 leukodystrophy, hypomyelinating, 2 32.6 GJB1 GJC2 PLP1
7 pol iii-related leukodystrophies 32.2 POLR1C POLR3A POLR3B
8 leukodystrophy 28.3 FAM126A GJC2 HSPD1 NKX6-2 PLP1 POLR1C
9 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.4
10 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.9
11 leukodystrophy, hypomyelinating, 13 11.8
12 pelizaeus-merzbacher disease 11.8
13 leukodystrophy, hypomyelinating, 9 11.8
14 leukodystrophy, hypomyelinating, 10 11.7
15 leukodystrophy, hypomyelinating, 12 11.7
16 leukodystrophy, hypomyelinating, 11 11.7
17 leukodystrophy, hypomyelinating, 14 11.7
18 leukodystrophy, hypomyelinating, 16 11.2
19 tubb4a-related leukodystrophy 11.1
20 leukodystrophy, hypomyelinating, 15 11.0
21 leukodystrophy, hypomyelinating, 17 11.0
22 cerebellar hypoplasia with endosteal sclerosis 10.5 LOC100287944 POLR3B
23 spastic paraplegia 13, autosomal dominant 10.5 GJC2 HSPD1
24 charcot-marie-tooth disease, x-linked dominant, 1 10.4 GJB1 GJC2
25 spastic paraplegia 2, x-linked 10.1 GJC2 PLP1
26 hallermann-streiff syndrome 10.0 GJB1 GJC2
27 cakut 10.0
28 hypogonadotropic hypogonadism 10.0
29 microcephaly 10.0
30 hypogonadism 10.0
31 hypogonadotropism 10.0
32 neuropathy 10.0
33 auditory neuropathy spectrum disorder 10.0
34 cerebral degeneration 9.8 GJC2 PLP1 POLR3A POLR3B
35 hereditary spastic paraplegia 9.6 GJC2 HSPD1 PLP1
36 hypomyelinating leukoencephalopathy 9.6 GJC2 PLP1 POLR3A POLR3B TUBB4A
37 pelizaeus-merzbacher-like disease 9.5 AIMP1 GJB1 GJC2 PLP1
38 hereditary neuropathies 9.5 GJB1 PLP1
39 trehalase deficiency 8.7 GJB1 GJC2 PLP1 SETBP1 TUBB4A

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



Diseases related to Hypomyelinating Leukodystrophy

Symptoms & Phenotypes for Hypomyelinating Leukodystrophy

GenomeRNAi Phenotypes related to Hypomyelinating Leukodystrophy according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 TUBB4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 GJB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 SETBP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.7 TUBB4A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.7 GJB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.7 SETBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.7 SETBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.7 TUBB4A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 GJB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 SETBP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 SETBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.7 GJB1 SETBP1 TUBB4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 SETBP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.7 SETBP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 GJB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 GJB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.7 GJB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.7 GJB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.7 SETBP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 SETBP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 TUBB4A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 SETBP1

Drugs & Therapeutics for Hypomyelinating Leukodystrophy

Search Clinical Trials , NIH Clinical Center for Hypomyelinating Leukodystrophy

Genetic Tests for Hypomyelinating Leukodystrophy

Genetic tests related to Hypomyelinating Leukodystrophy:

# Genetic test Affiliating Genes
1 Hypomyelinating Leukodystrophy 29

Anatomical Context for Hypomyelinating Leukodystrophy

MalaCards organs/tissues related to Hypomyelinating Leukodystrophy:

41
Kidney

Publications for Hypomyelinating Leukodystrophy

Articles related to Hypomyelinating Leukodystrophy:

(show all 28)
# Title Authors Year
1
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hot spot. ( 29444210 )
2018
2
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. ( 29444246 )
2018
3
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. ( 29576217 )
2018
4
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
5
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
6
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
7
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. ( 28969374 )
2017
8
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. ( 28407788 )
2017
9
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
10
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ( 29186371 )
2017
11
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation. ( 28377887 )
2017
12
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. ( 26597493 )
2016
13
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ( 27405012 )
2016
14
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. ( 26643067 )
2016
15
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. ( 25524707 )
2015
16
Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics. ( 25957474 )
2015
17
Auditory neuropathy spectrum disorder in hypomyelinating leukodystrophy--A case study. ( 26611342 )
2015
18
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. ( 24742798 )
2014
19
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. ( 23355746 )
2013
20
Pendular nystagmus in hypomyelinating leukodystrophy. ( 23845262 )
2013
21
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. ( 24417797 )
2013
22
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. ( 24190003 )
2013
23
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT). ( 22348788 )
2012
24
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. ( 22036172 )
2011
25
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. ( 21855841 )
2011
26
[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]. ( 20120347 )
2010
27
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. ( 16416265 )
2006
28
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. ( 16441258 )
2006

Variations for Hypomyelinating Leukodystrophy

Expression for Hypomyelinating Leukodystrophy

Search GEO for disease gene expression data for Hypomyelinating Leukodystrophy.

Pathways for Hypomyelinating Leukodystrophy

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

# Super pathways Score Top Affiliating Genes
1 11.1 POLR1C POLR3A POLR3B

GO Terms for Hypomyelinating Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 9.33 GJC2 PLP1 TUBB4A
2 gap junction GO:0005921 9.26 GJB1 GJC2
3 connexin complex GO:0005922 8.96 GJB1 GJC2
4 DNA-directed RNA polymerase III complex GO:0005666 8.8 POLR1C POLR3A POLR3B

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

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.54 AIMP1 POLR3A POLR3B
2 positive regulation of type I interferon production GO:0032481 9.33 POLR1C POLR3A POLR3B
3 positive regulation of interferon-beta production GO:0032728 9.32 POLR3A POLR3B
4 central nervous system myelination GO:0022010 9.26 NKX6-2 PLP1
5 myelination GO:0042552 9.13 ATRN FAM126A PLP1
6 transcription by RNA polymerase III GO:0006383 8.8 POLR1C POLR3A POLR3B

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 9.16 GJB1 GJC2
2 DNA-directed 5-3 RNA polymerase activity GO:0003899 9.13 POLR1C POLR3A POLR3B
3 RNA polymerase III activity GO:0001056 8.8 POLR1C POLR3A POLR3B

Sources for Hypomyelinating Leukodystrophy

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
Content
Loading form....