MCID: HYP700
MIFTS: 32

Hypomyelinating Leukodystrophy

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 38 30 15
Leukodystrophy, Hypomyelinating 41
Hld 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060786
KEGG 38 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 leukodystrophy, hypomyelinating, 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 brain, spinal cord and eye.

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
Leukodystrophy, Hypomyelinating, 18

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

(show all 42)
# 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 33.7 AIMP1 POLR3A
3 leukodystrophy, hypomyelinating, 3 33.3 AIMP1 POLR3A
4 leukodystrophy, hypomyelinating, 4 33.2 GJC2 HSPD1 PLP1
5 leukodystrophy, hypomyelinating, 5 33.0 FAM126A PLP1 TUBB4A
6 leukodystrophy, hypomyelinating, 2 33.0 GJB1 GJC2 PLP1
7 pol iii-related leukodystrophies 32.4 POLR1C POLR3A POLR3B
8 leukodystrophy 28.9 AIMP1 EPRS FAM126A GJC2 HSPD1 NKX6-2
9 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.6
10 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
11 leukodystrophy, hypomyelinating, 13 12.0
12 pelizaeus-merzbacher disease 12.0
13 leukodystrophy, hypomyelinating, 9 12.0
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 11.8
19 leukodystrophy, hypomyelinating, 15 11.7
20 leukodystrophy, hypomyelinating, 18 11.7
21 polr3-related leukodystrophy 11.5
22 tubb4a-related leukodystrophy 11.3
23 leukodystrophy, hypomyelinating, 17 11.2
24 spastic paraplegia 13, autosomal dominant 10.2 GJC2 HSPD1
25 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJB1 GJC2
26 oculodentodigital dysplasia 10.1
27 cakut 10.1
28 hypogonadotropic hypogonadism 10.1
29 hypogonadism 10.1
30 hypogonadotropism 10.1
31 neuropathy 10.1
32 pathologic nystagmus 10.1
33 microcephaly 10.1
34 auditory neuropathy spectrum disorder 10.1
35 cataract 10.1
36 hallermann-streiff syndrome 10.1 GJB1 GJC2
37 spastic paraplegia 2, x-linked 10.1 GJC2 PLP1
38 cerebral degeneration 9.9 GJC2 PLP1 POLR3A POLR3B
39 hypomyelinating leukoencephalopathy 9.8 GJC2 PLP1 POLR3A POLR3B TUBB4A
40 pelizaeus-merzbacher-like disease 9.7 AIMP1 GJB1 GJC2 PLP1
41 hereditary spastic paraplegia 9.7 GJC2 HSPD1 PLP1
42 commensal bacterial infectious disease 9.6 SETBP1 TST

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



Diseases related to Hypomyelinating Leukodystrophy

Symptoms & Phenotypes for Hypomyelinating Leukodystrophy

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 30

Anatomical Context for Hypomyelinating Leukodystrophy

MalaCards organs/tissues related to Hypomyelinating Leukodystrophy:

42
Brain, Spinal Cord, Eye

Publications for Hypomyelinating Leukodystrophy

Articles related to Hypomyelinating Leukodystrophy:

(show all 29)
# Title Authors Year
1
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. ( 30620337 )
2019
2
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients. ( 30791064 )
2019
3
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement. ( 31048294 )
2019
4
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. ( 29444210 )
2018
5
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. ( 29444246 )
2018
6
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. ( 29576217 )
2018
7
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation. ( 30584594 )
2018
8
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy. ( 30643851 )
2018
9
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
10
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
11
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation. ( 28377887 )
2017
12
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. ( 28407788 )
2017
13
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
14
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
15
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. ( 28969374 )
2017
16
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ( 29186371 )
2017
17
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. ( 26597493 )
2016
18
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. ( 26643067 )
2016
19
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ( 27405012 )
2016
20
Auditory neuropathy spectrum disorder in hypomyelinating leukodystrophy--A case study. ( 26611342 )
2015
21
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. ( 25524707 )
2015
22
Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics. ( 25957474 )
2015
23
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. ( 24417797 )
2014
24
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. ( 24742798 )
2014
25
Pendular nystagmus in hypomyelinating leukodystrophy. ( 23845262 )
2013
26
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. ( 24190003 )
2013
27
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. ( 21855841 )
2011
28
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. ( 22036172 )
2011
29
[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]. ( 20120347 )
2010

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 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.16 AIMP1 EPRS
4 myelin sheath GO:0043209 9.13 GJC2 PLP1 TUBB4A
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 defense response to virus GO:0051607 9.5 AIMP1 POLR3A POLR3B
2 positive regulation of interferon-beta production GO:0032728 9.26 POLR3A POLR3B
3 central nervous system myelination GO:0022010 9.16 NKX6-2 PLP1
4 myelination GO:0042552 9.13 ATRN FAM126A PLP1
5 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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