HLD
MCID: HYP700
MIFTS: 31

Hypomyelinating Leukodystrophy (HLD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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). Affiliated tissues include eye, 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 36)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 6 33.6 FAM126A TUBB4A
2 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 33.3 AIMP1 POLR3A
3 leukodystrophy, hypomyelinating, 3 33.1 AIMP1 POLR3A
4 leukodystrophy, hypomyelinating, 2 32.9 GJB1 GJC2 PLP1
5 leukodystrophy, hypomyelinating, 5 32.9 FAM126A PLP1 TUBB4A
6 leukodystrophy, hypomyelinating, 4 32.9 GJC2 HSPD1 PLP1
7 pelizaeus-merzbacher disease 32.7 GJC2 PLP1
8 pol iii-related leukodystrophies 32.0 POLR1C POLR3A POLR3B
9 leukodystrophy 29.6 AIMP1 EPRS FAM126A GJC2 HSPD1 NKX6-2
10 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.6
11 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.0
12 leukodystrophy, hypomyelinating, 13 12.0
13 leukodystrophy, hypomyelinating, 9 11.9
14 leukodystrophy, hypomyelinating, 10 11.9
15 leukodystrophy, hypomyelinating, 12 11.9
16 leukodystrophy, hypomyelinating, 11 11.8
17 leukodystrophy, hypomyelinating, 14 11.8
18 leukodystrophy, hypomyelinating, 16 11.4
19 leukodystrophy, hypomyelinating, 15 11.3
20 tubb4a-related leukodystrophy 11.2
21 leukodystrophy, hypomyelinating, 17 11.2
22 cerebellar hypoplasia with endosteal sclerosis 10.1 LOC100287944 POLR3B
23 spastic paraplegia 13, autosomal dominant 10.1 GJC2 HSPD1
24 charcot-marie-tooth disease, x-linked dominant, 1 10.1 GJB1 GJC2
25 cakut 10.1
26 hypogonadotropic hypogonadism 10.1
27 microcephaly 10.1
28 hypogonadism 10.1
29 neuropathy 10.1
30 auditory neuropathy spectrum disorder 10.1
31 hallermann-streiff syndrome 10.0 GJB1 GJC2
32 spastic paraplegia 2, x-linked 10.0 GJC2 PLP1
33 cerebral degeneration 9.9 GJC2 PLP1 POLR3A POLR3B
34 hypomyelinating leukoencephalopathy 9.8 GJC2 PLP1 POLR3A POLR3B TUBB4A
35 hereditary spastic paraplegia 9.8 GJC2 HSPD1 PLP1
36 pelizaeus-merzbacher-like disease 9.8 AIMP1 GJB1 GJC2 PLP1

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
Eye

Publications for Hypomyelinating Leukodystrophy

Articles related to Hypomyelinating Leukodystrophy:

(show all 41)
# 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
Effects of HLD-associated POLR1C mutant proteins on cellular localization and differentiation. ( 30505682 )
2018
5
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
6
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
7
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
8
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. ( 28969374 )
2017
9
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. ( 28407788 )
2017
10
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
11
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ( 29186371 )
2017
12
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation. ( 28377887 )
2017
13
Formulation of crude oil spill dispersants based on the HLD concept and using a lipopeptide biosurfactant. ( 28411538 )
2017
14
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. ( 26597493 )
2016
15
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ( 27405012 )
2016
16
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. ( 26643067 )
2016
17
Standards BoosterPak™ Supports Best Practices for HLD and Sterilization. ( 27263321 )
2016
18
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. ( 25524707 )
2015
19
Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics. ( 25957474 )
2015
20
Auditory neuropathy spectrum disorder in hypomyelinating leukodystrophy--A case study. ( 26611342 )
2015
21
The Cloud Point of Alkyl Ethoxylates and Its Prediction with the Hydrophilic-Lipophilic Difference (HLD) Framework. ( 26467232 )
2015
22
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. ( 24742798 )
2014
23
Pendular nystagmus in hypomyelinating leukodystrophy. ( 23845262 )
2013
24
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. ( 24417797 )
2013
25
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. ( 24190003 )
2013
26
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. ( 22036172 )
2011
27
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. ( 21855841 )
2011
28
[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]. ( 20120347 )
2010
29
Assessment of the validity of HLD (CalMod) in identifying orthodontic treatment need. ( 19968675 )
2010
30
Hydrophilic-lipophilic deviation (HLD) method for characterizing conventional and extended surfactants. ( 18572180 )
2008
31
Effects of the PT region of EngD and HLD of CbpA on solubility, catalytic activity and purification characteristics of EngD-CBD(CbpA) fusions from Clostridium cellulovorans. ( 15707684 )
2005
32
A useful insight into 2 occlusal indexes: HLD(Md) and HLD(CalMod). ( 11552123 )
2001
33
Useful data from application of the HLD (CalMod) Index. ( 10756268 )
2000
34
A study of 1000 malocclusions selected by the HLD (CalMod) Index. ( 10194276 )
1999
35
The HLD (CalMod) index and the index question. ( 9714277 )
1998
36
Distribution of the synergistic haemolysin genes hld and slush with respect to agr in human staphylococci. ( 9228746 )
1997
37
The role of the delta-lysin gene (hld) in the regulation of virulence genes by the accessory gene regulator (agr) in Staphylococcus aureus. ( 2328718 )
1990
38
Identification and nucleotide sequence of the delta-lysin gene, hld, adjacent to the accessory gene regulator (agr) of Staphylococcus aureus. ( 2622452 )
1989
39
The effect of short-term feeding of a high carbohydrate diet on HLD subclasses in normal subjects. ( 7289884 )
1981
40
Histocompatibility antigens of human plasma. Localization to the HLD-3 lipoprotein fraction. ( 4353948 )
1973
41
An evaluation of the HLD index as a decision-making tool. ( 19316503 )
1966

Variations for Hypomyelinating Leukodystrophy

Expression for Hypomyelinating Leukodystrophy

Search GEO for disease gene expression data for Hypomyelinating Leukodystrophy.

Pathways for Hypomyelinating Leukodystrophy

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 gap junction GO:0005921 9.32 GJB1 GJC2
2 connexin complex GO:0005922 9.26 GJB1 GJC2
3 myelin sheath GO:0043209 9.26 GJC2 HSPD1 PLP1 TUBB4A
4 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.16 AIMP1 EPRS
5 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 transcription, DNA-templated GO:0006351 9.54 POLR1C POLR3A POLR3B
2 defense response to virus GO:0051607 9.5 AIMP1 POLR3A POLR3B
3 tRNA aminoacylation for protein translation GO:0006418 9.4 AIMP1 EPRS
4 positive regulation of interferon-beta production GO:0032728 9.26 POLR3A POLR3B
5 central nervous system myelination GO:0022010 9.16 NKX6-2 PLP1
6 myelination GO:0042552 9.13 ATRN FAM126A PLP1
7 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 GTPase binding GO:0051020 9.26 AIMP1 EPRS
2 gap junction channel activity GO:0005243 9.16 GJB1 GJC2
3 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.13 POLR1C POLR3A POLR3B
4 RNA polymerase III activity GO:0001056 8.8 POLR1C POLR3A POLR3B

Sources for Hypomyelinating Leukodystrophy

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