MCID: PLZ001
MIFTS: 66

Pelizaeus-Merzbacher Disease

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

Aliases & Classifications for Pelizaeus-Merzbacher Disease

MalaCards integrated aliases for Pelizaeus-Merzbacher Disease:

Name: Pelizaeus-Merzbacher Disease 57 38 12 53 25 54 75 75 29 13 55 6 44 15 73
Pmd 57 12 53 25 75
Hld1 57 12 25 75
Cockayne-Pelizaeus-Merzbacher Disease 25 73
Pelizaeus Merzbacher Brain Sclerosis 12 53
Pelizaeus-Merzbacher Brain Sclerosis 12 75
Leukodystrophy, Hypomyelinating, 1 57 75
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type 12
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type 75
Pelizaeus-Merzbacher Disease, Connatal Form 59
Pelizaeus-Merzbacher Disease, Null Syndrome 59
Leukodystrophy, Hypomyelinating, 1; Hld1 57
Diffuse Cerebral Sclerosis of Schilder 73
Pelizaeus-Merzbacher Disease Type Ii 59
Hypomyelinating Leukodystrophy, 1 25
Diffuse Familial Brain Sclerosis 12
Hypomyelinating Leukodystrophy 1 12
Brain Sclerosis Diffuse Familial 75
Leukodystrophy Hypomyelinating 1 75
Pelizaeus-Merzbacher Disease ) 40
Leukodystrophy, Sudanophilic 12
Pelizaeus Merzbacher Disease 53
Sudanophilic Leukodystrophy 25
Plp1 Null Syndrome 59
Null Syndrome 59
Connatal Pmd 59
Severe Pmd 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
pelizaeus-merzbacher disease:
Onset and clinical course infantile onset slow progression
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Pelizaeus-Merzbacher Disease

NINDS : 54 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 leukodystrophy, hypomyelinating, 2 and spastic paraplegia 2, x-linked, and has symptoms including ataxia, muscle spasticity and seizures. 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 Dextromethorphan and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include Spinal Cord and Brain, and related phenotypes are nystagmus and intellectual disability

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 : 25 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 : 53 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 : 57 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 : 75 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 : 76 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 73)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 2 33.3 GJC2 MBP PLP1
2 spastic paraplegia 2, x-linked 33.2 GJC2 PLP1
3 pelizaeus-merzbacher-like disease 32.5 GJC2 PLP1 SLC16A2
4 hereditary neuropathy with liability to pressure palsy 31.2 MPZ PMP22
5 neuropathy, hereditary, with liability to pressure palsies 31.0 MPZ PMP22
6 hereditary neuropathies 29.7 MAG MBP MPZ PLP1 PMP22
7 charcot-marie-tooth disease 29.7 MAG MBP MPZ PLP1 PMP22
8 cerebral sclerosis similar to pelizaeus-merzbacher disease 12.3
9 pelizaeus-merzbacher disease, classic form 12.3
10 pelizaeus-merzbacher disease, transitional form 12.3
11 pelizaeus-merzbacher disease in female carriers 12.3
12 persistent mullerian duct syndrome 11.8
13 leukodystrophy 11.7
14 leukodystrophy, demyelinating, adult-onset, autosomal dominant 11.6
15 retinohepatoendocrinologic syndrome 11.5
16 leukodystrophy, hypomyelinating, 3 11.3
17 autosomal dominant leukodystrophy with autonomic disease 11.3
18 rh-null, regulator type 10.9
19 allergic encephalomyelitis 10.7 MBP PLP1
20 leukodystrophy, hypomyelinating, 4 10.7 GJC2 PLP1
21 hypomyelinating leukoencephalopathy 10.7 GJC2 PLP1
22 charcot-marie-tooth disease, x-linked dominant, 1 10.7 GJC2 MPZ
23 charcot-marie-tooth neuropathy type 1 10.6 MPZ PMP22
24 central pontine myelinolysis 10.6 MAG MBP
25 foot drop 10.6 MPZ PMP22
26 roussy-levy hereditary areflexic dystasia 10.6 MPZ PMP22
27 charcot-marie-tooth disease, demyelinating, type 1f 10.6 MPZ PMP22
28 charcot-marie-tooth disease, demyelinating, type 1c 10.6 MPZ PMP22
29 paraplegia 10.6
30 spasticity 10.6
31 charcot-marie-tooth disease, demyelinating, type 1b 10.6 MPZ PMP22
32 charcot-marie-tooth disease, axonal, type 2b 10.5 MPZ PMP22
33 motor peripheral neuropathy 10.5 MPZ PMP22
34 charcot-marie-tooth disease, demyelinating, type 1a 10.5 MPZ PMP22
35 mannosidosis, beta a, lysosomal 10.5 MAG MBP
36 chronic inflammatory demyelinating polyradiculoneuropathy 10.5 MPZ PMP22
37 spindle cell synovial sarcoma 10.5 MAG MBP
38 charcot-marie-tooth disease, demyelinating, type 1d 10.5 MPZ PMP22
39 cerebritis 10.4
40 aging 10.4
41 primary progressive multiple sclerosis 10.4 MBP PLP1
42 wallerian degeneration 10.4 MAG MPZ
43 demyelinating disease 10.4 MAG MBP PLP1
44 congenital hypomyelination neuropathy 10.4 MBP MPZ PMP22
45 guillain-barre syndrome 10.3 MBP MPZ PMP22
46 cerebral palsy 10.3
47 demyelinating polyneuropathy 10.3 MAG PMP22
48 sensory peripheral neuropathy 10.3 MAG MPZ PMP22
49 peripheral nervous system disease 10.3 MAG MPZ PMP22
50 spastic quadriplegia 10.2 PLP1 SLC16A2

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



Diseases related to Pelizaeus-Merzbacher Disease

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pelizaeus-Merzbacher Disease:

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

UMLS symptoms related to Pelizaeus-Merzbacher Disease:


ataxia, muscle spasticity, seizures, stridor, scanning speech

MGI Mouse Phenotypes related to Pelizaeus-Merzbacher Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 PLP1 PMP22 RARS SLC17A5 CHRM1 GJC2
2 homeostasis/metabolism MP:0005376 9.65 SLC17A5 CHRM1 MAG MBP MLC1 MPZ
3 hearing/vestibular/ear MP:0005377 9.63 CHRM1 MAG MBP PLP1 PMP22 SLC17A5
4 nervous system MP:0003631 9.32 CHRM1 GJC2 MAG MBP MLC1 MPZ

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
Dextromethorphan Approved Phase 4,Phase 3 125-71-3 5360696 5362449
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3 93-14-1 3516
3
Quinidine Approved, Investigational Phase 4,Phase 3 56-54-2 441074
4
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4,Phase 3 303-98-0 5281915
5 Adrenergic Agents Phase 4,Phase 3
6 Adrenergic alpha-Antagonists Phase 4,Phase 3
7 Adrenergic Antagonists Phase 4,Phase 3
8 Anti-Arrhythmia Agents Phase 4,Phase 3
9 Anti-Infective Agents Phase 4,Phase 3
10 Antimalarials Phase 4,Phase 3
11 Antiparasitic Agents Phase 4,Phase 3
12 Antiprotozoal Agents Phase 4,Phase 3
13 Antitussive Agents Phase 4,Phase 3
14 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 3
15 Cholinergic Agents Phase 4,Phase 3
16 Cholinergic Antagonists Phase 4,Phase 3
17 Cytochrome P-450 CYP2D6 Inhibitors Phase 4,Phase 3
18 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
19 Diuretics, Potassium Sparing Phase 4,Phase 3
20 Excitatory Amino Acid Antagonists Phase 4,Phase 3
21 Excitatory Amino Acids Phase 4,Phase 3
22 Muscarinic Antagonists Phase 4,Phase 3
23 Neurotransmitter Agents Phase 4,Phase 3
24 Quinidine gluconate Phase 4,Phase 3
25 Respiratory System Agents Phase 4,Phase 3
26 Sodium Channel Blockers 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
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 29 PLP1

Anatomical Context for Pelizaeus-Merzbacher Disease

MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease:

41
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 265)
# Title Authors Year
1
Neurogenetics of Pelizaeus-Merzbacher disease. ( 29478609 )
2018
2
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. ( 29665810 )
2018
3
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. ( 29619238 )
2018
4
Auditory function in Pelizaeus-Merzbacher disease. ( 29725841 )
2018
5
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. ( 29486744 )
2018
6
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. ( 28366443 )
2017
7
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease. ( 29027761 )
2017
8
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress. ( 28286750 )
2017
9
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. ( 28905880 )
2017
10
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. ( 28101371 )
2017
11
Is involvement of inflammation underestimated in Pelizaeus-Merzbacher disease? ( 27661457 )
2016
12
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. ( 27179222 )
2016
13
A genetically proven case of Pelizaeus-Merzbacher disease: Clinicoradiological clues. ( 27994374 )
2016
14
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease. ( 26725305 )
2016
15
A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding. ( 27793435 )
2016
16
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. ( 26774704 )
2016
17
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
18
General Anesthesia for a Patient With Pelizaeus-Merzbacher Disease. ( 27269667 )
2016
19
Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease. ( 27882623 )
2016
20
Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. ( 27222925 )
2016
21
Brain atrophy in Pelizaeus-Merzbacher disease. ( 26864603 )
2016
22
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease. ( 26329556 )
2015
23
Modeling the natural history of Pelizaeus-Merzbacher disease. ( 25562656 )
2015
24
Curcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease. ( 26339673 )
2015
25
Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case. ( 25959197 )
2015
26
Callosal disconnection syndrome in symptomatic female carrier of Pelizaeus-Merzbacher disease. ( 26279330 )
2015
27
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. ( 26179919 )
2015
28
Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene. ( 25789183 )
2015
29
Cerebral atrophy is linked to clinical severity and worsens with aging in patients with Pelizaeus-Merzbacher disease and Spastic Paraplegia type 2. ( 26531569 )
2015
30
Pelizaeus Merzbacher disease: dysmyelination versusdemyelination. ( 26486495 )
2015
31
Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine. ( 24521562 )
2014
32
Age-Related Changes in a Patient With Pelizaeus-Merzbacher Disease Determined by Repeated 1H-Magnetic Resonance Spectroscopy. ( 24056155 )
2014
33
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. ( 24974158 )
2014
34
Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes. ( 24936452 )
2014
35
Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy. ( 25040584 )
2014
36
Umbilical cord blood transplantation to treat pelizaeus-merzbacher disease in 2 young boys. ( 25287453 )
2014
37
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease. ( 25043250 )
2014
38
Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. ( 25491635 )
2014
39
Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy. ( 25343112 )
2013
40
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease. ( 23771846 )
2013
41
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. ( 24519770 )
2013
42
Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication. ( 23864668 )
2013
43
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. ( 24139698 )
2013
44
Pelizaeus-Merzbacher Disease, Easily Misdiagnosed as Cerebral Palsy: A Report of a Three-generation Family. ( 23597542 )
2013
45
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. ( 22283455 )
2013
46
Pelizaeus-Merzbacher disease as a chromosomal disorder. ( 23480352 )
2013
47
PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. ( 22320281 )
2013
48
Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease. ( 23344956 )
2013
49
Potential For Cell-mediated Immune Responses In Mouse Models Of Pelizaeus-Merzbacher Disease. ( 24575297 )
2013
50
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. ( 22695888 )
2012

Variations for Pelizaeus-Merzbacher Disease

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

75 (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

ClinVar genetic disease variations for Pelizaeus-Merzbacher Disease:

6
(show all 39)
# 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 PLP1, IVS6DS, G-T, +3 single nucleotide variant Pathogenic
24 PLP1 PLP1, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
25 PLP1 PLP1, IVS3DS, A-G, +4 single nucleotide variant Pathogenic
26 PLP1 NM_001128834.2(PLP1): c.169G> T (p.Asp57Tyr) single nucleotide variant Pathogenic rs132630296 GRCh37 Chromosome X, 103040675: 103040675
27 PLP1 NM_001128834.2(PLP1): c.169G> T (p.Asp57Tyr) single nucleotide variant Pathogenic rs132630296 GRCh38 Chromosome X, 103785746: 103785746
28 PLP1 NM_000533.4(PLP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs797045064 GRCh37 Chromosome X, 103031924: 103031924
29 PLP1 NM_000533.4(PLP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs797045064 GRCh38 Chromosome X, 103776996: 103776996
30 PLP1 NM_001128834.2(PLP1): c.453G> A (p.Lys151=) single nucleotide variant Pathogenic rs886044450 GRCh37 Chromosome X, 103041655: 103041655
31 PLP1 NM_001128834.2(PLP1): c.453G> A (p.Lys151=) single nucleotide variant Pathogenic rs886044450 GRCh38 Chromosome X, 103786726: 103786726
32 PLP1 NM_000533.4(PLP1): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs1060499653 GRCh37 Chromosome X, 103040681: 103040681
33 PLP1 NM_000533.4(PLP1): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs1060499653 GRCh38 Chromosome X, 103785752: 103785752
34 PLP1 NM_001128834.2(PLP1): c.384_393delCCAACATCAA (p.Gln129Leufs) deletion Pathogenic GRCh37 Chromosome X, 103041582: 103041595
35 PLP1 NM_001128834.2(PLP1): c.384_393delCCAACATCAA (p.Gln129Leufs) deletion Pathogenic GRCh38 Chromosome X, 103786657: 103786666
36 PLP1 NM_001128834.2(PLP1): c.617T> G (p.Met206Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 103042890: 103042890
37 PLP1 NM_001128834.2(PLP1): c.617T> G (p.Met206Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 103787961: 103787961
38 PLP1 NM_001128834.2(PLP1): c.658T> G (p.Cys220Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 103043401: 103043401
39 PLP1 NM_001128834.2(PLP1): c.658T> G (p.Cys220Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 103788472: 103788472

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 GLRA4 MAG MBP MLC1
2 integral component of plasma membrane GO:0005887 9.88 CHRM1 GLRA4 MAG MPZ SLC16A2 SLC17A5
3 paranode region of axon GO:0033270 9.37 GJC2 MAG
4 myelin sheath GO:0043209 9.35 GJC2 MAG MBP MPZ PLP1
5 compact myelin GO:0043218 8.8 MAG MBP PMP22
6 integral component of membrane GO:0016021 10.06 CHRM1 GJC2 GLRA4 MAG MLC1 MPZ
7 plasma membrane GO:0005886 10 CHRM1 GJC2 GLRA4 MAG MBP MLC1

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 GLRA4 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 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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