MCID: PLZ002
MIFTS: 29

Pelizaeus-Merzbacher-Like Disease

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

Aliases & Classifications for Pelizaeus-Merzbacher-Like Disease

MalaCards integrated aliases for Pelizaeus-Merzbacher-Like Disease:

Name: Pelizaeus-Merzbacher-Like Disease 53 59 55
Pmld 53 59

Characteristics:

Orphanet epidemiological data:

59
pelizaeus-merzbacher-like disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA280270
ICD10 via Orphanet 34 E75.2

Summaries for Pelizaeus-Merzbacher-Like Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 280270Disease definitionPelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).EpidemiologyPrevalence is unknown.Clinical descriptionIt is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on MRI.EtiologyOne PMLD form is due to mutations in the GJC2 gene encoding the gap junction protein C2. There are very likely other PMLD forms that have not been defined but that are caused by mutations affecting other genes involved in myelination. Other syndromes have also been referred to as PMLD but their inclusion as PMLD has been debated because of their severity and of the evidence of neuronal, besides white matter, involvement on MRI. These syndromes include an autosomal recessive syndrome due to mutations in the HSPD1 gene, encoding the heat shock protein 1, that resembles severe PMD (nystagmus, developmental delay, spasticity, feeding and breathing problems, early-onset lethality) and that is associated with acquired microcephaly, as well as a syndrome due to mutations in the AIMP1 gene, encoding the aminoacyl tRNA synthetase complex-interacting multifunctional protein 1, and characterized by nystagmus, axial hypotonia, spastic paraparesis, severe developmental delay, kyphoscoliosis, microcephaly, intellectual deficit, and absence of speech. An X-linked syndrome, allelic to Allan-Herndon-Dudley syndrome (see this term), has also been referred to as a PMLD. This syndrome is characterized by neonatal hypotonia, nystagmus, progressive spastic paraplegia, ataxia and developmental delay, and is due to mutations in the SLC16A2 gene encoding the monocarboxylate transporter 8 involved in thyroid hormone transport. However, MRI findings are not as severe as those of PMD (diffuse hypomyelination), and tend to improve over time, making this more of a delayed myelination disorder that is probably secondary to a neuronal dysfunction related to impaired thyroid hormone transport.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pelizaeus-Merzbacher-Like Disease, also known as pmld, is related to leukodystrophy, hypomyelinating, 4 and leukodystrophy, hypomyelinating, 2. An important gene associated with Pelizaeus-Merzbacher-Like Disease is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include thyroid, and related phenotypes are cellular and immune system

Related Diseases for Pelizaeus-Merzbacher-Like Disease

Graphical network of the top 20 diseases related to Pelizaeus-Merzbacher-Like Disease:



Diseases related to Pelizaeus-Merzbacher-Like Disease

Symptoms & Phenotypes for Pelizaeus-Merzbacher-Like Disease

MGI Mouse Phenotypes related to Pelizaeus-Merzbacher-Like Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 GJA1 GJB1 GJC2 HSP90B1 PLP1 SNAP29
2 immune system MP:0005387 9.1 AIMP1 GJA1 GJB1 GJC2 HSP90B1 PLP1

Drugs & Therapeutics for Pelizaeus-Merzbacher-Like Disease

Search Clinical Trials , NIH Clinical Center for Pelizaeus-Merzbacher-Like Disease

Genetic Tests for Pelizaeus-Merzbacher-Like Disease

Anatomical Context for Pelizaeus-Merzbacher-Like Disease

MalaCards organs/tissues related to Pelizaeus-Merzbacher-Like Disease:

41
Thyroid

Publications for Pelizaeus-Merzbacher-Like Disease

Articles related to Pelizaeus-Merzbacher-Like Disease:

(show all 27)
# Title Authors Year
1
Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease. ( 28712094 )
2017
2
Identification of GJC2 gene mutations in chinese patients with Pelizaeus-Merzbacher-like disease. ( 27057822 )
2016
3
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. ( 24374284 )
2014
4
New mutation of pelizaeus--merzbacher-like disease; a report from iran. ( 25035705 )
2014
5
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. ( 22669416 )
2013
6
Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation. ( 23143715 )
2013
7
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. ( 23684670 )
2013
8
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions. ( 23544880 )
2013
9
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. ( 21246605 )
2012
10
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. ( 22422208 )
2012
11
Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease. ( 22832166 )
2012
12
Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. ( 21750683 )
2011
13
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. ( 21959080 )
2011
14
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction. ( 20442743 )
2010
15
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. ( 20695017 )
2010
16
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. ( 21092922 )
2010
17
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. ( 19423250 )
2010
18
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. ( 19194886 )
2009
19
Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. ( 18521858 )
2009
20
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. ( 18094336 )
2008
21
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. ( 17881259 )
2008
22
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. ( 17031678 )
2007
23
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. ( 17344063 )
2007
24
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. ( 15192806 )
2004
25
Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. ( 9305348 )
1997
26
Pelizaeus-Merzbacher-like disease: female case report. ( 8733901 )
1996
27
Pelizaeus-Merzbacher-Like Disease 1 ( 29276893 )
1993

Variations for Pelizaeus-Merzbacher-Like Disease

ClinVar genetic disease variations for Pelizaeus-Merzbacher-Like Disease:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJC2 NM_020435.3(GJC2): c.857T> C (p.Met286Thr) single nucleotide variant Pathogenic rs74315311 GRCh37 Chromosome 1, 228346316: 228346316
2 GJC2 NM_020435.3(GJC2): c.857T> C (p.Met286Thr) single nucleotide variant Pathogenic rs74315311 GRCh38 Chromosome 1, 228158615: 228158615
3 GJC2 NM_020435.3(GJC2): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs74315312 GRCh37 Chromosome 1, 228345727: 228345727
4 GJC2 NM_020435.3(GJC2): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs74315312 GRCh38 Chromosome 1, 228158026: 228158026
5 GJC2 NM_020435.3(GJC2): c.989delC (p.Pro330Argfs) deletion Pathogenic rs796065027 GRCh38 Chromosome 1, 228158747: 228158747
6 GJC2 NM_020435.3(GJC2): c.989delC (p.Pro330Argfs) deletion Pathogenic rs796065027 GRCh37 Chromosome 1, 228346448: 228346448
7 GJC2 NM_020435.3(GJC2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs74315313 GRCh37 Chromosome 1, 228346177: 228346177
8 GJC2 NM_020435.3(GJC2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs74315313 GRCh38 Chromosome 1, 228158476: 228158476
9 GJC2 NM_020435.3(GJC2): c.814T> G (p.Tyr272Asp) single nucleotide variant Pathogenic rs74315314 GRCh37 Chromosome 1, 228346273: 228346273
10 GJC2 NM_020435.3(GJC2): c.814T> G (p.Tyr272Asp) single nucleotide variant Pathogenic rs74315314 GRCh38 Chromosome 1, 228158572: 228158572
11 GJC2 NM_020435.3(GJC2): c.914_947del34 (p.Pro305Argfs) deletion Pathogenic rs796065028 GRCh38 Chromosome 1, 228158672: 228158705
12 GJC2 NM_020435.3(GJC2): c.914_947del34 (p.Pro305Argfs) deletion Pathogenic rs796065028 GRCh37 Chromosome 1, 228346373: 228346406
13 GJC2 NM_020435.3(GJC2): c.695_696insG (p.Tyr232Terfs) insertion Pathogenic rs796065029 GRCh38 Chromosome 1, 228158453: 228158454
14 GJC2 NM_020435.3(GJC2): c.695_696insG (p.Tyr232Terfs) insertion Pathogenic rs796065029 GRCh37 Chromosome 1, 228346154: 228346155
15 GJC2 NM_020435.3(GJC2): c.-167A> G single nucleotide variant Pathogenic rs587776888 GRCh37 Chromosome 1, 228337561: 228337561
16 GJC2 NM_020435.3(GJC2): c.-167A> G single nucleotide variant Pathogenic rs587776888 GRCh38 Chromosome 1, 228149860: 228149860
17 GJC2 NM_020435.3(GJC2): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs397514734 GRCh37 Chromosome 1, 228346246: 228346246
18 GJC2 NM_020435.3(GJC2): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs397514734 GRCh38 Chromosome 1, 228158545: 228158545
19 GJC2 NM_020435.3(GJC2): c.-170A> G single nucleotide variant Pathogenic rs587777496 GRCh37 Chromosome 1, 228337558: 228337558
20 GJC2 NM_020435.3(GJC2): c.-170A> G single nucleotide variant Pathogenic rs587777496 GRCh38 Chromosome 1, 228149857: 228149857
21 GJC2 NM_020435.3(GJC2): c.78delG (p.Trp27Glyfs) deletion Likely pathogenic rs886039904 GRCh37 Chromosome 1, 228345537: 228345537
22 GJC2 NM_020435.3(GJC2): c.78delG (p.Trp27Glyfs) deletion Likely pathogenic rs886039904 GRCh38 Chromosome 1, 228157836: 228157836
23 SNAP29 NM_004782.3(SNAP29): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs886041240 GRCh37 Chromosome 22, 21213400: 21213400
24 SNAP29 NM_004782.3(SNAP29): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs886041240 GRCh38 Chromosome 22, 20859112: 20859112
25 SNAP29 NM_004782.3(SNAP29): c.354dupG (p.Leu119Alafs) duplication Pathogenic rs886041263 GRCh37 Chromosome 22, 21224741: 21224741
26 SNAP29 NM_004782.3(SNAP29): c.354dupG (p.Leu119Alafs) duplication Pathogenic rs886041263 GRCh38 Chromosome 22, 20870453: 20870453
27 GJC2 NM_020435.3(GJC2): c.1175C> G (p.Ser392Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 228158933: 228158933
28 GJC2 NM_020435.3(GJC2): c.1175C> G (p.Ser392Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 228346634: 228346634

Expression for Pelizaeus-Merzbacher-Like Disease

Search GEO for disease gene expression data for Pelizaeus-Merzbacher-Like Disease.

Pathways for Pelizaeus-Merzbacher-Like Disease

GO Terms for Pelizaeus-Merzbacher-Like Disease

Cellular components related to Pelizaeus-Merzbacher-Like Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 AIMP1 GJA1 GJB1 GJC2 HSP90B1 PLP1
2 plasma membrane GO:0005886 9.7 GJA1 GJB1 GJC2 HSP90B1 PLP1 SLC16A2
3 lateral plasma membrane GO:0016328 9.32 GJA1 GJB1
4 gap junction GO:0005921 9.13 GJA1 GJB1 GJC2
5 connexin complex GO:0005922 8.8 GJA1 GJB1 GJC2

Biological processes related to Pelizaeus-Merzbacher-Like Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.67 GJA1 GJB1 GJC2 SLC16A2
2 positive regulation of gene expression GO:0010628 9.63 GJA1 GJC2 PLP1
3 cell-cell signaling GO:0007267 9.56 AIMP1 GJA1 GJB1 GJC2
4 protein complex oligomerization GO:0051259 9.48 GJA1 GJB1
5 negative regulation of endothelial cell proliferation GO:0001937 9.43 AIMP1 GJA1
6 blood vessel morphogenesis GO:0048514 9.4 AIMP1 GJA1
7 gap junction assembly GO:0016264 9.32 GJA1 GJB1
8 cell communication by electrical coupling GO:0010644 9.16 GJA1 GJC2
9 epididymis development GO:1905867 8.96 GJA1 GJB1
10 cell communication GO:0007154 8.8 GJA1 GJB1 GJC2

Molecular functions related to Pelizaeus-Merzbacher-Like Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJA1 GJC2
2 gap junction channel activity GO:0005243 8.8 GJA1 GJB1 GJC2

Sources for Pelizaeus-Merzbacher-Like Disease

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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