PMLD
MCID: PLZ002
MIFTS: 37

Pelizaeus-Merzbacher-Like Disease (PMLD)

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

Aliases & Classifications for Pelizaeus-Merzbacher-Like Disease

MalaCards integrated aliases for Pelizaeus-Merzbacher-Like Disease:

Name: Pelizaeus-Merzbacher-Like Disease 20 58 54
Pmld 20 58

Characteristics:

Orphanet epidemiological data:

58
pelizaeus-merzbacher-like disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 E75.2
Orphanet 58 ORPHA280270

Summaries for Pelizaeus-Merzbacher-Like Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280270 Definition Pelizaeus-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). Epidemiology Prevalence is unknown. Clinical description It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on MRI. Etiology One 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.

MalaCards based summary : Pelizaeus-Merzbacher-Like Disease, also known as pmld, is related to leukodystrophy, hypomyelinating, 3 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 eye, thyroid and endothelial, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Pelizaeus-Merzbacher-Like Disease

Diseases in the Pelizaeus-Merzbacher Disease family:

Pelizaeus-Merzbacher-Like Disease

Diseases related to Pelizaeus-Merzbacher-Like Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 3 32.6 POLR3A AIMP1
2 leukodystrophy, hypomyelinating, 2 32.3 SNAP29 PLP1 GJC2 GJB1 GJA1
3 leukodystrophy, hypomyelinating, 4 31.7 POLR3A PLP1 HSPD1 GJC2
4 pelizaeus-merzbacher disease 30.9 SLC16A2 PLP1 GJC2
5 hypomyelinating leukodystrophy 30.9 POLR3A PLP1 HSPD1 GJC2 GJB1 AIMP1
6 paraplegia 30.3 PLP1 HSPD1 GJC2
7 spastic paraplegia 44, autosomal recessive 30.3 PLP1 GJC2 GJB1
8 allan-herndon-dudley syndrome 30.2 SLC16A2 PLP1
9 hypomyelinating leukoencephalopathy 30.2 POLR3A PLP1 GJC2
10 spastic paraplegia 2, x-linked 30.2 SLC16A2 PLP1 GJC2
11 hereditary spastic paraplegia 29.9 SLC16A2 PLP1 HSPD1 GJC2
12 leukodystrophy 28.9 SNAP29 POLR3A PLP1 HSPD1 GJC2 GJB1
13 pathologic nystagmus 10.7
14 spasticity 10.7
15 ataxia and polyneuropathy, adult-onset 10.6
16 47,xyy 10.5
17 hypotonia 10.4
18 autosomal recessive disease 10.3
19 scoliosis 10.3
20 congenital nystagmus 10.3
21 tremor 10.3
22 spastic paraplegia 75, autosomal recessive 10.2 PLP1 GJC2
23 3-methylglutaconic aciduria, type iii 10.2
24 anxiety 10.2
25 alacrima, achalasia, and mental retardation syndrome 10.2
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
27 sensorineural hearing loss 10.2
28 movement disease 10.2
29 dystonia 10.2
30 tubb4a-related leukodystrophy 10.2
31 athetosis 10.2
32 dysphagia 10.2
33 maternal uniparental disomy of chromosome 1 10.2
34 uniparental disomy of chromosome 1 10.2
35 maternal uniparental disomy 10.2
36 leukodystrophy, hypomyelinating, 5 10.2 PLP1 GJC2
37 charcot-marie-tooth disease type x 10.1 GJC2 GJB1
38 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1 POLR3A GJC2
39 hereditary neuropathies 10.1 PLP1 GJB1
40 leukodystrophy, hypomyelinating, 9 10.1 POLR3A GJC2
41 charcot-marie-tooth disease, x-linked dominant, 1 10.1 GJC2 GJB1
42 bart-pumphrey syndrome 10.1 GJB1 GJA1
43 learning disability 10.0
44 clouston syndrome 10.0 GJB1 GJA1
45 hereditary lymphedema ic 10.0 GJC2 GJB1 GJA1
46 hallermann-streiff syndrome 10.0 GJC2 GJB1 GJA1
47 palmoplantar keratoderma and congenital alopecia 1 10.0 GJC2 GJB1 GJA1
48 oculodentodigital dysplasia 10.0 GJC2 GJB1 GJA1
49 torsion dystonia 4 10.0 PLP1 HSPD1
50 spastic paraplegia 13, autosomal dominant 10.0 HSPD1 GJC2

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 behavior/neurological MP:0005386 10.01 AIMP1 GJA1 GJB1 GJC2 HSPD1 PLP1
2 growth/size/body region MP:0005378 9.92 AIMP1 GJA1 GJB1 HSP90B1 HSPD1 PLP1
3 cellular MP:0005384 9.91 GJA1 GJB1 GJC2 HSP90B1 HSPD1 PLP1
4 hematopoietic system MP:0005397 9.8 GJA1 GJB1 GJC2 HSP90B1 HSPD1 PLP1
5 immune system MP:0005387 9.7 AIMP1 GJA1 GJB1 GJC2 HSP90B1 PLP1
6 mortality/aging MP:0010768 9.61 AIMP1 GJA1 GJB1 GJC2 HSP90B1 HSPD1
7 nervous system MP:0003631 9.17 GJA1 GJB1 GJC2 HSPD1 PLP1 POLR3A

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:

40
Eye, Thyroid, Endothelial

Publications for Pelizaeus-Merzbacher-Like Disease

Articles related to Pelizaeus-Merzbacher-Like Disease:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. 6 61 54
18571143 2008
2
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. 6 61 54
18094336 2008
3
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. 54 6 61
17344063 2007
4
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. 61 6 54
17031678 2007
5
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]. 61 6
27780564 2016
6
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. 6 61
27405012 2016
7
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. 6 61
24374284 2014
8
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. 61 6
22669416 2013
9
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. 6 61
21246605 2012
10
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 6 61
21092922 2010
11
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. 61 6
20695017 2010
12
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. 6 61
16969684 2007
13
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 61 6
15192806 2004
14
Pelizaeus-Merzbacher-like disease: female case report. 6 61
8733901 1996
15
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. 6
26354221 2015
16
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
17
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset. 6
24958424 2014
18
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. 54 61
19423250 2010
19
Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. 54 61
18521858 2009
20
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 54 61
19056803 2009
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. 54 61
17881259 2008
22
Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy. 54 61
17171653 2007
23
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants. 61
33547378 2021
24
Can Circumstances Be Softened? Self-Efficacy, Post-Migratory Stressors, and Mental Health among Refugees. 61
33557018 2021
25
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease. 61
33515434 2021
26
Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report. 61
33727856 2021
27
Variations in prevalence and risk profiles for Common Mental Disorders amongst Rohingya, Chin and Kachin refugees from Myanmar. 61
32914737 2020
28
Mental health of forced migrants recently granted leave to remain in the United Kingdom. 61
32686559 2020
29
Occurrence and correlates of depressive symptoms among the resettled Afghan refugees in a regional area of Australia. 61
32243096 2020
30
The prevalence and correlates of symptoms of post-traumatic stress disorder (PTSD) among resettled Afghan refugees in a regional area of Australia. 61
32223476 2020
31
Influence of post-migration living difficulties on post-traumatic symptoms in Chinese asylum seekers resettled in Italy. 61
31774022 2020
32
Utility of the Sleep Disorders Inventory for Students in Clinically Referred Youth With Insomnia: Risk Identification and Relationship With Polysomnographic Measures. 61
30793972 2020
33
An analysis of the five year outcomes of a cohort of 46 deaf children with severe (SLD) or profound and multiple learning difficulties (PMLD) and associated complex needs, including autism (ASD), tracked using the Nottingham Early Cognitive and Listening Links (Early CaLL): This framework monitors the relationship between sound processor use and listening, spoken language, cognition and communicative development, following cochlear implantation. 61
31514587 2020
34
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
35
The development and implementation of the Nottingham early cognitive and listening links (Early CaLL); A framework designed to support expectation counselling and to monitor the progress, post cochlear implantation, of deaf children with severe (SLD) and profound and multiple learning difficulties (PMLD) and associated complex needs. 61
31514706 2020
36
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). 61
31748968 2019
37
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 61
31587869 2019
38
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family. 61
31431325 2019
39
Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease. 61
31508687 2019
40
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. 61
31270756 2019
41
Effectiveness of myofascial release after breast cancer surgery in women undergoing conservative surgery and radiotherapy: a randomized controlled trial. 61
30470892 2019
42
Growth of a Surface-Tethered, All-Carbon Backboned Fluoropolymer by Photoactivated Molecular Layer Deposition. 61
31180195 2019
43
Diseases of connexins expressed in myelinating glia. 61
28545922 2019
44
Effect of Physical Methods of Lymphatic Drainage on Postexercise Recovery of Mixed Martial Arts Athletes. 61
28817412 2019
45
Correlation of Functional Lung Heterogeneity and Dosimetry to Radiation Pneumonitis using Perfusion SPECT/CT and FDG PET/CT Imaging. 61
30108002 2018
46
Development and characterization of high payload combination dry powders of anti-tubercular drugs for treating pulmonary tuberculosis. 61
29625212 2018
47
Rapid and Specific Immunomagnetic Isolation of Mouse Primary Oligodendrocytes. 61
29863670 2018
48
Quality of life outcomes in cochlear implantation of children with profound and multiple learning disability. 61
29457562 2018
49
Changes in Post-migration Living Difficulties Predict Treatment Outcome in Traumatized Refugees. 61
30356791 2018
50
Neurogenetics of Pelizaeus-Merzbacher disease. 61
29478609 2018

Variations for Pelizaeus-Merzbacher-Like Disease

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

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJC2 NM_020435.4(GJC2):c.857T>C (p.Met286Thr) SNV Pathogenic 2071 rs74315311 GRCh37: 1:228346316-228346316
GRCh38: 1:228158615-228158615
2 GJC2 NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) SNV Pathogenic 2072 rs74315312 GRCh37: 1:228345727-228345727
GRCh38: 1:228158026-228158026
3 GJC2 NM_020435.4(GJC2):c.989del (p.Pro330fs) Deletion Pathogenic 2073 rs796065027 GRCh37: 1:228346446-228346446
GRCh38: 1:228158745-228158745
4 GJC2 NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) SNV Pathogenic 2074 rs74315313 GRCh37: 1:228346177-228346177
GRCh38: 1:228158476-228158476
5 GJC2 NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp) SNV Pathogenic 2075 rs74315314 GRCh37: 1:228346273-228346273
GRCh38: 1:228158572-228158572
6 GJC2 NM_020435.4(GJC2):c.914_947del (p.Pro305fs) Deletion Pathogenic 2076 rs796065028 GRCh37: 1:228346360-228346393
GRCh38: 1:228158659-228158692
7 GJC2 NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter) Insertion Pathogenic 2077 rs796065029 GRCh37: 1:228346154-228346155
GRCh38: 1:228158453-228158454
8 GJC2 NM_020435.3(GJC2):c.-167A>G SNV Pathogenic 30759 rs587776888 GRCh37: 1:228337561-228337561
GRCh38: 1:228149860-228149860
9 GJC2 NM_020435.4(GJC2):c.787G>A (p.Glu263Lys) SNV Pathogenic 60683 rs397514734 GRCh37: 1:228346246-228346246
GRCh38: 1:228158545-228158545
10 GJC2 NM_020435.3(GJC2):c.-170A>G SNV Pathogenic 139577 rs587777496 GRCh37: 1:228337558-228337558
GRCh38: 1:228149857-228149857
11 HSPD1 NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly) SNV Pathogenic 17558 rs72466451 GRCh37: 2:198363487-198363487
GRCh38: 2:197498763-197498763
12 GJC2 NM_020435.4(GJC2):c.575dup (p.Thr195fs) Duplication Pathogenic 873005 GRCh37:
GRCh38:
13 SNAP29 NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) SNV Pathogenic 279894 rs886041240 GRCh37: 22:21213400-21213400
GRCh38: 22:20859112-20859112
14 GJC2 NM_020435.4(GJC2):c.85_86dup (p.Val30fs) Duplication Pathogenic 571339 rs1558119445 GRCh37: 1:228345542-228345543
GRCh38: 1:228157841-228157842
15 AIMP1 NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs) Deletion Pathogenic 30372 rs387906865 GRCh37: 4:107249300-107249301
GRCh38: 4:106328143-106328144
16 AIMP1 NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) SNV Pathogenic 162377 rs724159969 GRCh37: 4:107248613-107248613
GRCh38: 4:106327456-106327456
17 AIMP1 NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) SNV Pathogenic 243083 rs879253867 GRCh37: 4:107249343-107249343
GRCh38: 4:106328186-106328186
18 SNAP29 NM_004782.4(SNAP29):c.354dup (p.Leu119fs) Duplication Pathogenic 279932 rs751575036 GRCh37: 22:21224735-21224736
GRCh38: 22:20870447-20870448
19 AIMP1 NM_001142416.2(AIMP1):c.162del (p.Lys54fs) Deletion Pathogenic 590774 rs750731609 GRCh37: 4:107248658-107248658
GRCh38: 4:106327501-106327501
20 GJC2 NM_020435.4(GJC2):c.49dup (p.His17fs) Duplication Likely pathogenic 983451 GRCh37: 1:228345506-228345507
GRCh38: 1:228157805-228157806
21 GJC2 NM_020435.4(GJC2):c.193_195del (p.Asn65del) Deletion Likely pathogenic 634512 rs1558119525 GRCh37: 1:228345650-228345652
GRCh38: 1:228157949-228157951
22 GJC2 NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) Deletion Likely pathogenic 656694 rs1571908452 GRCh37: 1:228346584-228346594
GRCh38: 1:228158883-228158893
23 GJC2 NM_020435.4(GJC2):c.1155del (p.Arg386fs) Deletion Likely pathogenic 801629 rs1196278287 GRCh37: 1:228346609-228346609
GRCh38: 1:228158908-228158908
24 GJC2 NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) SNV Likely pathogenic 870536 GRCh37: 1:228346342-228346342
GRCh38: 1:228158641-228158641
25 POLR3A NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) SNV Likely pathogenic 590969 rs1564617866 GRCh37: 10:79760741-79760741
GRCh38: 10:78000983-78000983
26 HSPD1 NM_002156.5(HSPD1):c.139T>G (p.Leu47Val) SNV Likely pathogenic 816623 GRCh37: 2:198363434-198363434
GRCh38: 2:197498710-197498710
27 GJC2 NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) SNV Likely pathogenic 872979 GRCh37:
GRCh38:
28 GJC2 NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) SNV Likely pathogenic 872977 GRCh37:
GRCh38:
29 GJC2 NM_020435.4(GJC2):c.78del (p.Trp27fs) Deletion Likely pathogenic 266108 rs886039904 GRCh37: 1:228345537-228345537
GRCh38: 1:228157836-228157836
30 GJC2 NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) SNV Likely pathogenic 435326 rs1356633840 GRCh37: 1:228346634-228346634
GRCh38: 1:228158933-228158933
31 GJC2 NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) SNV Likely pathogenic 801628 rs1330596542 GRCh37: 1:228345676-228345676
GRCh38: 1:228157975-228157975
32 GJC2 NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) SNV Uncertain significance 695528 rs577325764 GRCh37: 1:228345904-228345904
GRCh38: 1:228158203-228158203
33 GJC2 NM_020435.4(GJC2):c.571_572insG (p.Thr191fs) Insertion Uncertain significance 981047 GRCh37: 1:228346030-228346031
GRCh38: 1:228158329-228158330
34 GJC2 NM_020435.4(GJC2):c.1096dup (p.Asp366fs) Duplication Uncertain significance 981049 GRCh37: 1:228346551-228346552
GRCh38: 1:228158850-228158851
35 HSPD1 NM_002156.5(HSPD1):c.1394_1406del (p.Ile465fs) Deletion Uncertain significance 976190 GRCh37: 2:198352745-198352757
GRCh38: 2:197488021-197488033
36 GJC2 NM_020435.4(GJC2):c.907_923del (p.Gly303fs) Deletion Uncertain significance 932966 GRCh37: 1:228346362-228346378
GRCh38: 1:228158661-228158677
37 GJC2 NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) SNV Uncertain significance 982030 GRCh37: 1:228345521-228345521
GRCh38: 1:228157820-228157820
38 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
39 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
40 GJC2 NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) SNV Uncertain significance 800511 rs1571908096 GRCh37: 1:228346227-228346227
GRCh38: 1:228158526-228158526
41 HSPD1 NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val) SNV Uncertain significance 410975 rs374322039 GRCh37: 2:198351780-198351780
GRCh38: 2:197487056-197487056
42 HSPD1 NM_002156.5(HSPD1):c.871C>G (p.Leu291Val) SNV Uncertain significance 410974 rs139649754 GRCh37: 2:198355019-198355019
GRCh38: 2:197490295-197490295
43 HSPD1 NM_002156.5(HSPD1):c.947T>C (p.Met316Thr) SNV Uncertain significance 1029563 GRCh37: 2:198354943-198354943
GRCh38: 2:197490219-197490219
44 AIMP1 NM_001142416.2(AIMP1):c.578T>A (p.Leu193Gln) SNV Uncertain significance 1030837 GRCh37: 4:107253015-107253015
GRCh38: 4:106331858-106331858
45 HSPD1 NM_002156.5(HSPD1):c.1681A>G (p.Met561Val) SNV Likely benign 800207 rs371969794 GRCh37: 2:198351811-198351811
GRCh38: 2:197487087-197487087
46 AIMP1 NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) SNV not provided 585142 rs1344482241 GRCh37: 4:107268814-107268814
GRCh38: 4:106347657-106347657

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 9.85 SNAP29 SLC16A2 POLR3A PLP1 HSPD1 HSP90B1
2 protein-containing complex GO:0032991 9.62 HSPD1 HSP90B1 GJB1 GJA1
3 myelin sheath GO:0043209 9.26 PLP1 GJC2
4 gap junction GO:0005921 9.13 GJC2 GJB1 GJA1
5 connexin complex GO:0005922 8.8 GJC2 GJB1 GJA1

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 9.71 SLC16A2 GJC2 GJB1 GJA1
2 response to ischemia GO:0002931 9.46 HSPD1 GJA1
3 cell-cell signaling GO:0007267 9.46 GJC2 GJB1 GJA1 AIMP1
4 negative regulation of endothelial cell proliferation GO:0001937 9.43 GJA1 AIMP1
5 gap junction assembly GO:0016264 9.37 GJB1 GJA1
6 cell communication by electrical coupling GO:0010644 9.32 GJC2 GJA1
7 epididymis development GO:1905867 9.26 GJB1 GJA1
8 cell communication GO:0007154 9.13 GJC2 GJB1 GJA1
9 positive regulation of calcium ion transmembrane transport GO:1904427 8.62 PLP1 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 GJC2 GJA1
2 gap junction channel activity GO:0005243 8.8 GJC2 GJB1 GJA1

Sources for Pelizaeus-Merzbacher-Like Disease

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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