Aliases & Classifications for Plp1 Disorders

MalaCards integrated aliases for Plp1 Disorders:

Name: Plp1 Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Plp1 pathogenic variants are believed to be completely penetrant in males.

Summaries for Plp1 Disorders

MalaCards based summary : Plp1 Disorders is related to pelizaeus-merzbacher disease and spastic paraplegia 2, x-linked. An important gene associated with Plp1 Disorders is PLP1 (Proteolipid Protein 1). Affiliated tissues include brain.

GeneReviews: NBK1182

Related Diseases for Plp1 Disorders

Diseases related to Plp1 Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 10.0
2 spastic paraplegia 2, x-linked 10.0
3 scoliosis 10.0
4 paraplegia 10.0
5 pathologic nystagmus 10.0
6 spastic paraparesis 10.0
7 dysphagia 10.0
8 hypotonia 10.0
9 spasticity 10.0

Graphical network of the top 20 diseases related to Plp1 Disorders:



Diseases related to Plp1 Disorders

Symptoms & Phenotypes for Plp1 Disorders

Drugs & Therapeutics for Plp1 Disorders

Search Clinical Trials , NIH Clinical Center for Plp1 Disorders

Genetic Tests for Plp1 Disorders

Anatomical Context for Plp1 Disorders

MalaCards organs/tissues related to Plp1 Disorders:

40
Brain

Publications for Plp1 Disorders

Articles related to Plp1 Disorders:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 24
31587869 2019
2
Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation. 24
31585094 2019
3
Diagnosis, prognosis, and treatment of leukodystrophies. 24
31307818 2019
4
Long-Term Safety, Immunologic Response, and Imaging Outcomes following Neural Stem Cell Transplantation for Pelizaeus-Merzbacher Disease. 24
31378671 2019
5
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation. 24
31137068 2019
6
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease. 24
30919030 2019
7
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement. 24
31048294 2019
8
Chemical Screening Identifies Enhancers of Mutant Oligodendrocyte Survival and Unmasks a Distinct Pathological Phase in Pelizaeus-Merzbacher Disease. 24
30146490 2018
9
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 24
28842795 2017
10
PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers. 24
29620084 2017
11
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress. 24
28286750 2017
12
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders. 24
26786043 2016
13
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. 24
26329556 2015
14
Altered PLP1 splicing causes hypomyelination of early myelinating structures. 24
26125040 2015
15
Consensus statement on preventive and symptomatic care of leukodystrophy patients. 24
25577286 2015
16
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. 24
24890387 2014
17
Mutations in RARS cause hypomyelination. 24
24777941 2014
18
Proteolipid protein dimerization at cysteine 108: Implications for protein structure. 24
22902553 2012
19
Neural stem cell engraftment and myelination in the human brain. 24
23052294 2012
20
Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. 24
22706386 2012
21
Central nervous system myelin: structure, synthesis and assembly. 24
21763137 2011
22
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. 24
21679407 2011
23
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 24
20881161 2010
24
The burden of inherited leukodystrophies in children. 24
20660364 2010
25
Axonal damage in leukodystrophies. 24
20304325 2010
26
Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1. 24
19705472 2009
27
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. 24
18160035 2007
28
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. 24
16778599 2006
29
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. 24
16416265 2006
30
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. 24
16374829 2006
31
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. 24
16380909 2005
32
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. 24
15689360 2005
33
Magnetic resonance techniques in the assessment of myelin and myelination. 24
15868466 2005
34
Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. 24
15591263 2004
35
Insertion of mutant proteolipid protein results in missorting of myelin proteins. 24
14681886 2003
36
Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. 24
12884439 2003
37
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. 24
12910435 2003
38
Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. 24
12605435 2003
39
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. 24
12601703 2003
40
Prenatal diagnosis of Pelizaeus-Merzbacher disease. 24
12424770 2002
41
The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. 24
12441049 2002
42
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. 24
12297985 2002
43
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. 24
11872612 2002
44
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. 24
11761472 2001
45
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations. 24
11274318 2001
46
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 24
11093273 2000
47
Assembly of myelin by association of proteolipid protein with cholesterol- and galactosylceramide-rich membrane domains. 24
11018060 2000
48
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. 24
10827108 2000
49
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. 24
10878666 2000
50
The proteolipid protein gene and myelin disorders in man and animal models. 24
10767322 2000

Variations for Plp1 Disorders

Expression for Plp1 Disorders

Search GEO for disease gene expression data for Plp1 Disorders.

Pathways for Plp1 Disorders

GO Terms for Plp1 Disorders

Sources for Plp1 Disorders

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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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