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PMD
MCID: PLZ001
MIFTS: 64
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Pelizaeus-Merzbacher Disease (PMD)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Pelizaeus-Merzbacher Disease:
Characteristics:Orphanet epidemiological data:58
pelizaeus-merzbacher disease
Inheritance: X-linked dominant,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;
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:56
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:31
pelizaeus-merzbacher disease:
Onset and clinical course infantile onset slow progression Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases External Ids:
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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.
Pelizaeus-Merzbacher disease is divided into classic and connatal (present from birth) types. Although these two types differ in severity, their features can overlap.
Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills, such as sitting or grasping objects. Some individuals are able to walk with assistance. Despite these neurological problems, intellectual and motor skills develop throughout childhood, but development usually stops around adolescence, and these skills are slowly lost (developmental regression). As the condition worsens, nystagmus usually goes away but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), head and neck tremors (titubation), involuntary tensing of the muscles (dystonia), and jerking (choreiform) movements.
Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and seizures. As the condition worsens, affected children develop spasticity leading to joint deformities (contractures) that restrict movement. Individuals with connatal Pelizaeus-Merzbacher disease are never able to walk, and many are not able to purposefully use their arms. They also have problems producing speech (expressive language) but can generally understand speech (receptive language).
MalaCards based summary : Pelizaeus-Merzbacher Disease, also known as pmd, is related to leukodystrophy, hypomyelinating, 2 and pelizaeus-merzbacher-like disease, 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 Validated targets of C-MYC transcriptional activation. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include Brain and Spinal Cord, 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. NIH Rare Diseases : 52 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 : 56 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) NINDS : 53 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. UniProtKB/Swiss-Prot : 73 Leukodystrophy, hypomyelinating, 1: An 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 : 74 Pelizaeus-Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the... more... |
Human phenotypes related to Pelizaeus-Merzbacher Disease:58 31 (show top 50) (show all 52)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:312080UMLS symptoms related to Pelizaeus-Merzbacher Disease:seizures, ataxia, scanning speech, stridor, muscle spasticity GenomeRNAi Phenotypes related to Pelizaeus-Merzbacher Disease according to GeneCards Suite gene sharing:26 (show all 11)
MGI Mouse Phenotypes related to Pelizaeus-Merzbacher Disease:45
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Drugs for Pelizaeus-Merzbacher Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cell-based therapeutics:
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:
Embryonic/Adult Cultured Cells Related to Pelizaeus-Merzbacher Disease:
Cochrane evidence based reviews: pelizaeus-merzbacher disease |
MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease:40
Brain,
Eye,
Spinal Cord,
Bone,
Cerebellum,
Lung,
Thyroid
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Pelizaeus-Merzbacher Disease:
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Articles related to Pelizaeus-Merzbacher Disease:(show top 50) (show all 548)
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Genes related to Pelizaeus-Merzbacher Disease (1 elite genes):(show all 45) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pelizaeus-Merzbacher Disease:6 (show all 35)
UniProtKB/Swiss-Prot genetic disease variations for Pelizaeus-Merzbacher Disease:73 (show top 50) (show all 62)
Copy number variations for Pelizaeus-Merzbacher Disease from CNVD:7
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Search
GEO
for disease gene expression data for Pelizaeus-Merzbacher Disease.
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Cellular components related to Pelizaeus-Merzbacher Disease according to GeneCards Suite gene sharing:
Biological processes related to Pelizaeus-Merzbacher Disease according to GeneCards Suite gene sharing:
Molecular functions related to Pelizaeus-Merzbacher Disease according to GeneCards Suite gene sharing:
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