HLD1
MCID: PLZ001
MIFTS: 64

Pelizaeus-Merzbacher Disease (HLD1)

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

Aliases & Classifications for Pelizaeus-Merzbacher Disease

MalaCards integrated aliases for Pelizaeus-Merzbacher Disease:

Name: Pelizaeus-Merzbacher Disease 58 39 12 77 54 26 55 76 76 30 13 56 6 45 15 74
Pmd 58 12 54 26 76
Hld1 58 12 26 76
Cockayne-Pelizaeus-Merzbacher Disease 26 74
Pelizaeus Merzbacher Brain Sclerosis 12 54
Pelizaeus-Merzbacher Brain Sclerosis 12 76
Leukodystrophy, Hypomyelinating, 1 58 76
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type 12
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type 76
Pelizaeus-Merzbacher Disease, Connatal Form 60
Pelizaeus-Merzbacher Disease, Null Syndrome 60
Leukodystrophy, Hypomyelinating, 1; Hld1 58
Diffuse Cerebral Sclerosis of Schilder 74
Pelizaeus-Merzbacher Disease Type Ii 60
Hypomyelinating Leukodystrophy, 1 26
Diffuse Familial Brain Sclerosis 12
Hypomyelinating Leukodystrophy 1 12
Brain Sclerosis Diffuse Familial 76
Leukodystrophy Hypomyelinating 1 76
Pelizaeus-Merzbacher Disease ) 41
Leukodystrophy, Sudanophilic 12
Pelizaeus Merzbacher Disease 54
Sudanophilic Leukodystrophy 26
Plp1 Null Syndrome 60
Null Syndrome 60
Connatal Pmd 60
Severe Pmd 60

Characteristics:

Orphanet epidemiological data:

60
pelizaeus-merzbacher disease, connatal form
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;
null syndrome
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult;

OMIM:

58
Miscellaneous:
onset in infancy
slowly progressive
nystagmus may disappear by mid-childhood
hearing impairment may improve with age
connatal form (type ii), most severe with death in first decade
classical form (type i), less severe with survival into adulthood
spastic paraplegia 2 (spg2, ) is an allelic disorder

Inheritance:
x-linked recessive


HPO:

33
pelizaeus-merzbacher disease:
Onset and clinical course infantile onset slow progression
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Pelizaeus-Merzbacher Disease

NINDS : 55 Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are: Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; Complicated SPG2, which features motor development issues and brain involvement, and, Pure SPG2, which includes cases of PMD that do not have neurologic complications. Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.

MalaCards based summary : Pelizaeus-Merzbacher Disease, also known as pmd, is related to spastic paraplegia 2, x-linked and leukodystrophy, hypomyelinating, 2, and has symptoms including seizures, ataxia and scanning speech. An important gene associated with Pelizaeus-Merzbacher Disease is PLP1 (Proteolipid Protein 1), and among its related pathways/superpathways are Neural Crest Differentiation and Glial Cell Differentiation. The drugs Quinidine and Dextromethorphan have been mentioned in the context of this disorder. Affiliated tissues include Spinal Cord and Brain, and related phenotypes are nystagmus and psychomotor deterioration

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22.

Genetics Home Reference : 26 Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, Pelizaeus-Merzbacher disease involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. As a result, overall neurological function is reduced.

NIH Rare Diseases : 54 Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.

OMIM : 58 Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). (312080)

UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 1: A X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. Pelizaeus-Merzbacher disease: An X-linked recessive hypomyelinating disorder of the central nervous system in which myelin is not formed properly. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay.

Wikipedia : 77 Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor... more...

Related Diseases for Pelizaeus-Merzbacher Disease

Diseases in the Pelizaeus-Merzbacher Disease family:

Pelizaeus-Merzbacher-Like Disease

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 2, x-linked 33.5 GJC2 PLP1
2 leukodystrophy, hypomyelinating, 2 33.3 GJC2 MBP PLP1
3 pelizaeus-merzbacher-like disease 32.9 GJC2 PLP1 SLC16A2
4 neuropathy, hereditary, with liability to pressure palsies 30.9 MPZ PMP22
5 charcot-marie-tooth disease 30.2 MAG MBP MPZ PLP1 PMP22
6 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.5
7 pelizaeus-merzbacher disease, classic form 12.5
8 pelizaeus-merzbacher disease, transitional form 12.5
9 pelizaeus-merzbacher disease in female carriers 12.5
10 persistent mullerian duct syndrome 12.2
11 leukodystrophy 11.9
12 persistent mullerian duct syndrome, types i and ii 11.9
13 leukodystrophy, demyelinating, adult-onset, autosomal dominant 11.8
14 retinohepatoendocrinologic syndrome 11.7
15 leukodystrophy, hypomyelinating, 3 11.5
16 autosomal dominant leukodystrophy with autonomic disease 11.5
17 microphthalmia, syndromic 9 11.3
18 rh-null, amorph type 11.1
19 pellucid marginal degeneration 11.1
20 paraplegia 10.7
21 ichthyosis prematurity syndrome 10.5
22 cerebral palsy 10.5
23 allergic encephalomyelitis 10.4 MBP PLP1
24 leukodystrophy, hypomyelinating, 4 10.4 GJC2 PLP1
25 hypomyelinating leukoencephalopathy 10.4 GJC2 PLP1
26 chromosome 18q deletion syndrome 10.4 GJC2 MBP
27 central pontine myelinolysis 10.3 MAG MBP
28 charcot-marie-tooth hereditary neuropathy 10.3 MPZ PMP22
29 leigh syndrome 10.3
30 aging 10.3
31 malaria 10.3
32 leukodystrophy, hypomyelinating, 9 10.3
33 spastic paraplegia 75, autosomal recessive 10.3
34 spinal muscular atrophy 10.3
35 tooth disease 10.3
36 beriberi 10.3
37 muscular atrophy 10.3
38 neuropathy 10.3
39 pathologic nystagmus 10.3
40 microcephaly 10.3
41 brainstem auditory evoked responses 10.3
42 hypotonia 10.3
43 tremor 10.3
44 cerebral atrophy 10.3
45 foot drop 10.3 MPZ PMP22
46 roussy-levy hereditary areflexic dystasia 10.3 MPZ PMP22
47 charcot-marie-tooth disease, demyelinating, type 1f 10.3 MPZ PMP22
48 charcot-marie-tooth disease, axonal, type 2d 10.3 MPZ PMP22
49 charcot-marie-tooth disease, demyelinating, type 1c 10.3 MPZ PMP22
50 charcot-marie-tooth disease, demyelinating, type 1b 10.3 MPZ PMP22

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



Diseases related to Pelizaeus-Merzbacher Disease

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease

Human phenotypes related to Pelizaeus-Merzbacher Disease:

33 (show all 50)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 obligate (100%) HP:0000639
2 psychomotor deterioration 33 obligate (100%) HP:0002361
3 ataxia 33 hallmark (90%) HP:0001251
4 muscular hypotonia 33 hallmark (90%) HP:0001252
5 spasticity 33 hallmark (90%) HP:0001257
6 gait disturbance 33 hallmark (90%) HP:0001288
7 developmental regression 33 hallmark (90%) HP:0002376
8 scoliosis 33 hallmark (90%) HP:0002650
9 kyphosis 33 hallmark (90%) HP:0002808
10 abnormal pyramidal sign 33 hallmark (90%) HP:0007256
11 behavioral abnormality 33 hallmark (90%) HP:0000708
12 global developmental delay 33 hallmark (90%) HP:0001263
13 joint stiffness 33 hallmark (90%) HP:0001387
14 visual impairment 33 hallmark (90%) HP:0000505
15 optic atrophy 33 frequent (33%) HP:0000648
16 failure to thrive in infancy 33 hallmark (90%) HP:0001531
17 dystonia 33 hallmark (90%) HP:0001332
18 cerebral cortical atrophy 33 hallmark (90%) HP:0002120
19 cachexia 33 hallmark (90%) HP:0004326
20 premature birth 33 hallmark (90%) HP:0001622
21 progressive spastic quadriplegia 33 hallmark (90%) HP:0002478
22 intellectual disability 33 frequent (33%) HP:0001249
23 seizures 33 occasional (7.5%) HP:0001250
24 dysarthria 33 frequent (33%) HP:0001260
25 failure to thrive 33 frequent (33%) HP:0001508
26 dysphagia 33 frequent (33%) HP:0002015
27 respiratory insufficiency 33 frequent (33%) HP:0002093
28 neurological speech impairment 33 frequent (33%) HP:0002167
29 bowel incontinence 33 frequent (33%) HP:0002607
30 hearing impairment 33 occasional (7.5%) HP:0000365
31 recurrent respiratory infections 33 frequent (33%) HP:0002205
32 delayed speech and language development 33 frequent (33%) HP:0000750
33 microcephaly 33 frequent (33%) HP:0000252
34 short stature 33 frequent (33%) HP:0004322
35 abnormality of visual evoked potentials 33 frequent (33%) HP:0000649
36 arteriovenous malformation 33 frequent (33%) HP:0100026
37 choreoathetosis 33 frequent (33%) HP:0001266
38 abnormality of the urinary system 33 frequent (33%) HP:0000079
39 head titubation 33 frequent (33%) HP:0002599
40 sudanophilic leukodystrophy 33 frequent (33%) HP:0003269
41 reduction of oligodendroglia 33 frequent (33%) HP:0100709
42 peripheral neuropathy 33 occasional (7.5%) HP:0009830
43 congenital laryngeal stridor 33 occasional (7.5%) HP:0004886
44 hyporeflexia 33 very rare (1%) HP:0001265
45 tremor 33 HP:0001337
46 generalized hypotonia 33 HP:0001290
47 scanning speech 33 HP:0002168
48 leukodystrophy 33 HP:0002415
49 rotary nystagmus 33 HP:0001583
50 cerebral dysmyelination 33 HP:0007266

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
dystonia
more
Head And Neck Eyes:
optic atrophy
rotary nystagmus

Growth:
developmental delay

Head And Neck Head:
microcephaly

Respiratory Larynx:
stridor

Head And Neck Ears:
decreased or absent brainstem auditory evoked potentials (baep) of waves iii-v
hearing impairment may occur

Clinical features from OMIM:

312080

UMLS symptoms related to Pelizaeus-Merzbacher Disease:


seizures, ataxia, scanning speech, stridor, muscle spasticity

MGI Mouse Phenotypes related to Pelizaeus-Merzbacher Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CHRM1 GJC2 GPM6B MAG MBP MPZ
2 cellular MP:0005384 10.01 CTBS GJC2 GPM6B MBP MPZ PLP1
3 homeostasis/metabolism MP:0005376 10 CHRM1 CTBS GPM6B MAG MBP MPZ
4 hematopoietic system MP:0005397 9.92 CHRM1 CTBS GJC2 GPM6B MAG MBP
5 hearing/vestibular/ear MP:0005377 9.85 CHRM1 GPM6B MBP PLP1 PMP22 SLC17A5
6 immune system MP:0005387 9.76 CHRM1 CTBS GJC2 GPM6B MAG MBP
7 nervous system MP:0003631 9.65 CHRM1 GJC2 GPM6B MAG MBP MPZ
8 vision/eye MP:0005391 9.1 GJC2 GPM6B MBP PLP1 PMP22 SLC17A5

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease

Drugs for Pelizaeus-Merzbacher Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Quinidine Approved, Investigational Phase 4,Phase 3 56-54-2 441074
2
Dextromethorphan Approved Phase 4,Phase 3 125-71-3 5362449 5360696
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3 93-14-1 3516
4
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4,Phase 3 303-98-0 5281915
5 Diuretics, Potassium Sparing Phase 4,Phase 3
6 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 3
7 Antimalarials Phase 4,Phase 3
8 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
9 Excitatory Amino Acids Phase 4,Phase 3
10 Anti-Infective Agents Phase 4,Phase 3
11 Neurotransmitter Agents Phase 4,Phase 3
12 Adrenergic Agents Phase 4,Phase 3
13 Excitatory Amino Acid Antagonists Phase 4,Phase 3
14 Sodium Channel Blockers Phase 4,Phase 3
15 Adrenergic alpha-Antagonists Phase 4,Phase 3
16 Respiratory System Agents Phase 4,Phase 3
17 Antiparasitic Agents Phase 4,Phase 3
18 Antitussive Agents Phase 4,Phase 3
19 Cholinergic Antagonists Phase 4,Phase 3
20 Muscarinic Antagonists Phase 4,Phase 3
21 Anti-Arrhythmia Agents Phase 4,Phase 3
22 Quinidine gluconate Phase 4,Phase 3
23 Adrenergic Antagonists Phase 4,Phase 3
24 Cytochrome P-450 CYP2D6 Inhibitors Phase 4,Phase 3
25 Antiprotozoal Agents Phase 4,Phase 3
26 Cholinergic Agents Phase 4,Phase 3
27 Fluorides Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Tolerability and Effectiveness of Nuedexta in the Treatment of Pseudobulbar Affect (PBA) Completed NCT01799941 Phase 4 Nuedexta (DM 20 mg/Q 10 mg)
2 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
3 Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects Completed NCT01005004 Phase 1
4 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
5 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
6 Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD) Completed NCT01391637
7 Impact of Providing Free Preventive Dental Health Products on Infant's Tooth Brushing and Bottle-feeding Termination Practices Completed NCT02200536 Not Applicable
8 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Pelizaeus-Merzbacher Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pelizaeus-Merzbacher Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Pelizaeus-Merzbacher Disease:
Enriched hematopoetic stem cell for inherited metabolic disorders
HuCNS-SC, human central nervous system stem cells for neurological diseases
Embryonic/Adult Cultured Cells Related to Pelizaeus-Merzbacher Disease:
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22430083
Human neural stem cells (HuCNS-SC�) PMIDs: 16610769

Cochrane evidence based reviews: pelizaeus-merzbacher disease

Genetic Tests for Pelizaeus-Merzbacher Disease

Genetic tests related to Pelizaeus-Merzbacher Disease:

# Genetic test Affiliating Genes
1 Pelizaeus-Merzbacher Disease 30 PLP1

Anatomical Context for Pelizaeus-Merzbacher Disease

MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease:

42
Brain, Spinal Cord, Eye, Bone, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pelizaeus-Merzbacher Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Spinal Cord Spinal Cord White Matter Myelinating Oligodendrocyte Cells Affected by disease
2 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease

Publications for Pelizaeus-Merzbacher Disease

Articles related to Pelizaeus-Merzbacher Disease:

(show top 50) (show all 368)
# Title Authors Year
1
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease. ( 30919030 )
2019
2
Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA. ( 31092737 )
2019
3
Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1. ( 31110947 )
2019
4
Collection of the Abstracts of the 2019Sp PMD: Translational Myology and Mobility Medicine. ( 31019666 )
2019
5
Protect, modify, deprotect (PMD): A strategy for creating vaccines to elicit antibodies targeting a specific epitope. ( 31028143 )
2019
6
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. ( 29619238 )
2018
7
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease. ( 29027761 )
2018
8
Neurogenetics of Pelizaeus-Merzbacher disease. ( 29478609 )
2018
9
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. ( 29486744 )
2018
10
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. ( 29665810 )
2018
11
Auditory function in Pelizaeus-Merzbacher disease. ( 29725841 )
2018
12
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. ( 30104812 )
2018
13
Anesthetic challenges and successful management of a child with Pelizaeus-Merzbacher disease using general and caudal anesthesia. ( 30104840 )
2018
14
Chemical Screening Identifies Enhancers of Mutant Oligodendrocyte Survival and Unmasks a Distinct Pathological Phase in Pelizaeus-Merzbacher Disease. ( 30146490 )
2018
15
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease. ( 30616056 )
2018
16
3D shape measurement of discontinuous specular objects based on advanced PMD with bi-telecentric lens. ( 29402034 )
2018
17
Window-split structured frequency domain Kalman equalization scheme for large PMD and ultra-fast RSOP in an optical coherent PDM-QPSK system. ( 29609407 )
2018
18
Determination of red blood cell deformability using centrifugal force in a three-dimensional-printed mini-disk (3D-PMD). ( 29787582 )
2018
19
Evaluation of standard field and laboratory methods to compare protection times of the topical repellents PMD and DEET. ( 30135603 )
2018
20
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS. ( 30195779 )
2018
21
Physical Layer Cryptographic Key Generation by Exploiting PMD of an Optical Fiber Link. ( 30713365 )
2018
22
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress. ( 28286750 )
2017
23
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. ( 28366443 )
2017
24
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. ( 28905880 )
2017
25
A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding. ( 27793435 )
2017
26
Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease. ( 27882623 )
2017
27
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. ( 28101371 )
2017
28
Personality traits in psychogenic nonepileptic seizures (PNES) and psychogenic movement disorder (PMD): Neuroticism and perfectionism. ( 28606495 )
2017
29
Pea Marker Database (PMD) - A new online database combining known pea (Pisum sativum L.) gene-based markers. ( 29073280 )
2017
30
Pelizaeus Merzbacher disease: dysmyelination versus demyelination. ( 26486495 )
2016
31
Modulation of the Innate Immune Response by Human Neural Precursors Prevails over Oligodendrocyte Progenitor Remyelination to Rescue a Severe Model of Pelizaeus-Merzbacher Disease. ( 26676415 )
2016
32
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease. ( 26725305 )
2016
33
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. ( 26774704 )
2016
34
Brain atrophy in Pelizaeus-Merzbacher disease. ( 26864603 )
2016
35
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. ( 27179222 )
2016
36
Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. ( 27222925 )
2016
37
General Anesthesia for a Patient With Pelizaeus-Merzbacher Disease. ( 27269667 )
2016
38
Is involvement of inflammation underestimated in Pelizaeus-Merzbacher disease? ( 27661457 )
2016
39
A genetically proven case of Pelizaeus-Merzbacher disease: Clinicoradiological clues. ( 27994374 )
2016
40
Effectiveness of bulking agents for co-composting penicillin mycelial dreg (PMD) and sewage sludge in pilot-scale system. ( 26362639 )
2016
41
PMD: A Resource for Archiving and Analyzing Protein Microarray data. ( 26813635 )
2016
42
PMD tolerant nonlinear compensation using in-line phase conjugation. ( 26906997 )
2016
43
First Approval of Regenerative Medical Products under the PMD Act in Japan. ( 27058934 )
2016
44
DEET (N,N-diethyl-meta-toluamide)/PMD (para-menthane-3,8-diol) repellent-treated mesh increases Culicoides catches in light traps. ( 27179956 )
2016
45
Joint CD and PMD monitoring based on a pair of low-bandwidth coherent receivers. ( 27857406 )
2016
46
REMOVED: Cerebral atrophy is linked to clinical severity and worsens with aging in patients with Pelizaeus-Merzbacher disease and Spastic Paraplegia type 2. ( 29887120 )
2015
47
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. ( 24974158 )
2015
48
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease. ( 25043250 )
2015
49
Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. ( 25491635 )
2015
50
Modeling the natural history of Pelizaeus-Merzbacher disease. ( 25562656 )
2015

Variations for Pelizaeus-Merzbacher Disease

UniProtKB/Swiss-Prot genetic disease variations for Pelizaeus-Merzbacher Disease:

76 (show top 50) (show all 62)
# Symbol AA change Variation ID SNP ID
1 PLP1 p.Pro15Leu VAR_004546 rs11543022
2 PLP1 p.Thr43Ile VAR_004547 rs132630289
3 PLP1 p.Gly74Arg VAR_004548 rs132630285
4 PLP1 p.Thr156Ile VAR_004552 rs132630280
5 PLP1 p.Trp163Arg VAR_004553 rs132630279
6 PLP1 p.Val166Glu VAR_004554
7 PLP1 p.Thr182Pro VAR_004555 rs132630282
8 PLP1 p.Asp203His VAR_004557 rs132630284
9 PLP1 p.Pro216Ser VAR_004558 rs132630278
10 PLP1 p.Gly217Ser VAR_004559
11 PLP1 p.Val219Phe VAR_004560 rs132630281
12 PLP1 p.Gly221Cys VAR_004561 rs132630286
13 PLP1 p.Leu224Pro VAR_004562 rs132630283
14 PLP1 p.Ala249Pro VAR_004565
15 PLP1 p.Asp203Val VAR_007956
16 PLP1 p.Leu31Pro VAR_015014
17 PLP1 p.Phe32Leu VAR_015015
18 PLP1 p.Phe32Val VAR_015016
19 PLP1 p.Cys35Tyr VAR_015017
20 PLP1 p.Ala39Thr VAR_015018
21 PLP1 p.Leu46Pro VAR_015019
22 PLP1 p.Leu46Arg VAR_015020
23 PLP1 p.Phe51Ser VAR_015021
24 PLP1 p.Tyr60Cys VAR_015022
25 PLP1 p.Thr116Lys VAR_015023
26 PLP1 p.His148Tyr VAR_015025
27 PLP1 p.Lys151Asn VAR_015026
28 PLP1 p.Cys169Arg VAR_015028
29 PLP1 p.Val172Ala VAR_015030
30 PLP1 p.Tyr175Cys VAR_015031
31 PLP1 p.Trp181Cys VAR_015032
32 PLP1 p.Thr183Asn VAR_015033
33 PLP1 p.Asp203Glu VAR_015034
34 PLP1 p.Asp203Gly VAR_015035
35 PLP1 p.Asp203Asn VAR_015036 rs132630284
36 PLP1 p.Arg205Gly VAR_015037
37 PLP1 p.Tyr207Cys VAR_015038
38 PLP1 p.Val209Asp VAR_015039
39 PLP1 p.Leu210His VAR_015040
40 PLP1 p.Pro211Leu VAR_015041
41 PLP1 p.Trp212Arg VAR_015042
42 PLP1 p.Pro216Ala VAR_015043
43 PLP1 p.Cys220Tyr VAR_015044
44 PLP1 p.Cys228Tyr VAR_015047 rs398123466
45 PLP1 p.Gln234Pro VAR_015048
46 PLP1 p.Ala242Pro VAR_015049
47 PLP1 p.Gly246Glu VAR_015050
48 PLP1 p.Ala248Glu VAR_015051
49 PLP1 p.Ser253Phe VAR_015052
50 PLP1 p.Cys33Tyr VAR_046906 rs106479425

ClinVar genetic disease variations for Pelizaeus-Merzbacher Disease:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLP1 NM_001128834.2(PLP1): c.646C> T (p.Pro216Ser) single nucleotide variant Pathogenic rs132630278 GRCh37 Chromosome X, 103043389: 103043389
2 PLP1 NM_001128834.2(PLP1): c.646C> T (p.Pro216Ser) single nucleotide variant Pathogenic rs132630278 GRCh38 Chromosome X, 103788460: 103788460
3 PLP1 NM_001128834.2(PLP1): c.487T> C (p.Trp163Arg) single nucleotide variant Likely pathogenic rs132630279 GRCh37 Chromosome X, 103042760: 103042760
4 PLP1 NM_001128834.2(PLP1): c.487T> C (p.Trp163Arg) single nucleotide variant Likely pathogenic rs132630279 GRCh38 Chromosome X, 103787831: 103787831
5 PLP1 NM_001128834.2(PLP1): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs11543022 GRCh37 Chromosome X, 103040550: 103040550
6 PLP1 NM_001128834.2(PLP1): c.44C> T (p.Pro15Leu) single nucleotide variant Pathogenic rs11543022 GRCh38 Chromosome X, 103785621: 103785621
7 PLP1 NM_001128834.2(PLP1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs132630280 GRCh37 Chromosome X, 103042740: 103042740
8 PLP1 NM_001128834.2(PLP1): c.467C> T (p.Thr156Ile) single nucleotide variant Pathogenic rs132630280 GRCh38 Chromosome X, 103787811: 103787811
9 PLP1 NM_001128834.2(PLP1): c.655G> T (p.Val219Phe) single nucleotide variant Pathogenic rs132630281 GRCh37 Chromosome X, 103043398: 103043398
10 PLP1 NM_001128834.2(PLP1): c.655G> T (p.Val219Phe) single nucleotide variant Pathogenic rs132630281 GRCh38 Chromosome X, 103788469: 103788469
11 PLP1 PLP1, DEL deletion Pathogenic
12 PLP1 NM_001128834.2(PLP1): c.544A> C (p.Thr182Pro) single nucleotide variant Pathogenic rs132630282 GRCh37 Chromosome X, 103042817: 103042817
13 PLP1 NM_001128834.2(PLP1): c.544A> C (p.Thr182Pro) single nucleotide variant Pathogenic rs132630282 GRCh38 Chromosome X, 103787888: 103787888
14 PLP1 NM_001128834.2(PLP1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs132630283 GRCh37 Chromosome X, 103043414: 103043414
15 PLP1 NM_001128834.2(PLP1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs132630283 GRCh38 Chromosome X, 103788485: 103788485
16 PLP1 NM_001128834.2(PLP1): c.607G> C (p.Asp203His) single nucleotide variant Pathogenic rs132630284 GRCh37 Chromosome X, 103042880: 103042880
17 PLP1 NM_001128834.2(PLP1): c.607G> C (p.Asp203His) single nucleotide variant Pathogenic rs132630284 GRCh38 Chromosome X, 103787951: 103787951
18 PLP1 NM_001128834.2(PLP1): c.220G> A (p.Gly74Arg) single nucleotide variant Pathogenic rs132630285 GRCh37 Chromosome X, 103041422: 103041422
19 PLP1 NM_001128834.2(PLP1): c.220G> A (p.Gly74Arg) single nucleotide variant Pathogenic rs132630285 GRCh38 Chromosome X, 103786493: 103786493
20 PLP1 NM_001128834.2(PLP1): c.128C> T (p.Thr43Ile) single nucleotide variant Pathogenic rs132630289 GRCh37 Chromosome X, 103040634: 103040634
21 PLP1 NM_001128834.2(PLP1): c.128C> T (p.Thr43Ile) single nucleotide variant Pathogenic rs132630289 GRCh38 Chromosome X, 103785705: 103785705
22 PLP1 PLP1, DUP duplication Pathogenic
23 PLP1 NM_001128834.2(PLP1): c.762+3G> T single nucleotide variant Pathogenic GRCh38 Chromosome X, 103789401: 103789401
24 PLP1 NM_001128834.2(PLP1): c.762+3G> T single nucleotide variant Pathogenic GRCh37 Chromosome X, 103044330: 103044330
25 PLP1 NM_001128834.2(PLP1): c.453+4A> G single nucleotide variant Pathogenic GRCh37 Chromosome X, 103041659: 103041659
26 PLP1 NM_001128834.2(PLP1): c.453+4A> G single nucleotide variant Pathogenic GRCh38 Chromosome X, 103786730: 103786730
27 PLP1 NM_001128834.2(PLP1): c.169G> T (p.Asp57Tyr) single nucleotide variant Pathogenic rs132630296 GRCh37 Chromosome X, 103040675: 103040675
28 PLP1 NM_001128834.2(PLP1): c.169G> T (p.Asp57Tyr) single nucleotide variant Pathogenic rs132630296 GRCh38 Chromosome X, 103785746: 103785746
29 PLP1 NM_000533.4(PLP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs797045064 GRCh37 Chromosome X, 103031924: 103031924
30 PLP1 NM_000533.4(PLP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs797045064 GRCh38 Chromosome X, 103776996: 103776996
31 PLP1 NM_000533.4(PLP1): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs1060499653 GRCh37 Chromosome X, 103040681: 103040681
32 PLP1 NM_000533.4(PLP1): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs1060499653 GRCh38 Chromosome X, 103785752: 103785752
33 PLP1 NM_000533.4(PLP1): c.140T> C (p.Ile47Thr) single nucleotide variant Likely pathogenic rs1060500909 GRCh37 Chromosome X, 103040646: 103040646
34 PLP1 NM_000533.4(PLP1): c.140T> C (p.Ile47Thr) single nucleotide variant Likely pathogenic rs1060500909 GRCh38 Chromosome X, 103785717: 103785717
35 PLP1 NM_001128834.2(PLP1): c.384_393delCCAACATCAA (p.Gln129Leufs) deletion Pathogenic rs1556267215 GRCh37 Chromosome X, 103041586: 103041595
36 PLP1 NM_001128834.2(PLP1): c.384_393delCCAACATCAA (p.Gln129Leufs) deletion Pathogenic rs1556267215 GRCh38 Chromosome X, 103786657: 103786666
37 PLP1 NM_001128834.2(PLP1): c.617T> G (p.Met206Arg) single nucleotide variant Likely pathogenic rs1556269487 GRCh37 Chromosome X, 103042890: 103042890
38 PLP1 NM_001128834.2(PLP1): c.617T> G (p.Met206Arg) single nucleotide variant Likely pathogenic rs1556269487 GRCh38 Chromosome X, 103787961: 103787961
39 PLP1 NM_000533.3(PLP1): c.453+2T> C single nucleotide variant Pathogenic rs1556267388 GRCh37 Chromosome X, 103041657: 103041657
40 PLP1 NM_000533.3(PLP1): c.453+2T> C single nucleotide variant Pathogenic rs1556267388 GRCh38 Chromosome X, 103786728: 103786728
41 PLP1 NM_001128834.2(PLP1): c.658T> G (p.Cys220Gly) single nucleotide variant Likely pathogenic rs1556270312 GRCh37 Chromosome X, 103043401: 103043401
42 PLP1 NM_001128834.2(PLP1): c.658T> G (p.Cys220Gly) single nucleotide variant Likely pathogenic rs1556270312 GRCh38 Chromosome X, 103788472: 103788472
43 PLP1 NM_000533.4(PLP1): c.518C> G (p.Pro173Arg) single nucleotide variant Uncertain significance rs1556269029 GRCh37 Chromosome X, 103042791: 103042791
44 PLP1 NM_000533.4(PLP1): c.518C> G (p.Pro173Arg) single nucleotide variant Uncertain significance rs1556269029 GRCh38 Chromosome X, 103787862: 103787862
45 PLP1 NM_000533.4(PLP1): c.41C> A (p.Ala14Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103040547: 103040547
46 PLP1 NM_000533.4(PLP1): c.41C> A (p.Ala14Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103785618: 103785618
47 PLP1 NM_000533.4(PLP1): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 103040672: 103040672
48 PLP1 NM_000533.4(PLP1): c.166C> T (p.Gln56Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 103785743: 103785743
49 PLP1 NM_000533.4(PLP1): c.677C> G (p.Ser226Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 103043420: 103043420
50 PLP1 NM_000533.4(PLP1): c.677C> G (p.Ser226Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 103788491: 103788491

Copy number variations for Pelizaeus-Merzbacher Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257410 X 102500000 103600000 Microduplication Pelizaeus-Merzbacher disease
2 257431 X 102918094 102934203 Duplication PLP1 Pelizaeus-Merzbacher disease
3 266517 X 98200000 110500000 Deletion or duplicat ion PLP1 Pelizaeus-Merzbacher disease
4 266518 X 98200000 110500000 Deletion or duplicat ion PLP1 Pelizaeus-Merzbacher disease
5 266521 X 98200000 110500000 Microdeletion Pelizaeus-Merzbacher disease

Expression for Pelizaeus-Merzbacher Disease

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

Pathways for Pelizaeus-Merzbacher Disease

Pathways related to Pelizaeus-Merzbacher Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 MBP MPZ PMP22
2 9.7 MAG MBP PLP1

GO Terms for Pelizaeus-Merzbacher Disease

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 CHRM1 GJC2 GPM6B MAG MBP MPZ
2 myelin sheath GO:0043209 9.35 GJC2 MAG MBP MPZ PLP1
3 paranode region of axon GO:0033270 9.32 GJC2 MAG
4 compact myelin GO:0043218 8.8 MAG MBP PMP22
5 integral component of membrane GO:0016021 10.07 CHRM1 GJC2 GPM6B MAG MPZ PDE3B
6 plasma membrane GO:0005886 10 CHRM1 GJC2 GPM6B MAG MBP MPZ

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

# Name GO ID Score Top Affiliating Genes
1 substantia nigra development GO:0021762 9.37 MBP PLP1
2 chemical synaptic transmission GO:0007268 9.35 CHRM1 MBP MPZ PLP1 PMP22
3 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.32 MAG MPZ
4 central nervous system myelination GO:0022010 9.26 MAG PLP1
5 axon ensheathment GO:0008366 9.16 MBP PLP1
6 myelination GO:0042552 8.92 MBP MPZ PLP1 PMP22

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of myelin sheath GO:0019911 8.62 MBP PLP1

Sources for Pelizaeus-Merzbacher Disease

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
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45 MeSH
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50 NCI
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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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