MCID: PLZ007
MIFTS: 18

Pelizaeus-Merzbacher Disease, Classic Form

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pelizaeus-Merzbacher Disease, Classic Form

MalaCards integrated aliases for Pelizaeus-Merzbacher Disease, Classic Form:

Name: Pelizaeus-Merzbacher Disease, Classic Form 58
Classic Pmd 58

Characteristics:

Orphanet epidemiological data:

58
pelizaeus-merzbacher disease, classic form
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Pelizaeus-Merzbacher Disease, Classic Form

MalaCards based summary : Pelizaeus-Merzbacher Disease, Classic Form, also known as classic pmd, is related to pelizaeus-merzbacher disease. An important gene associated with Pelizaeus-Merzbacher Disease, Classic Form is PLP1 (Proteolipid Protein 1). Affiliated tissues include eye and spinal cord, and related phenotypes are nystagmus and ataxia

Related Diseases for Pelizaeus-Merzbacher Disease, Classic Form

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

# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 11.1

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease, Classic Form

Human phenotypes related to Pelizaeus-Merzbacher Disease, Classic Form:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
6 cerebral hypomyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0006808
7 eeg with abnormally slow frequencies 58 31 hallmark (90%) Very frequent (99-80%) HP:0011203
8 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
9 confluent hyperintensity of cerebral white matter on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0040330
10 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
11 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
12 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
13 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
14 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
15 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
16 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
17 athetosis 58 31 frequent (33%) Frequent (79-30%) HP:0002305
18 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
19 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
20 abnormality of somatosensory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007377
21 titubation 58 31 frequent (33%) Frequent (79-30%) HP:0030187
22 delayed ability to sit 58 31 frequent (33%) Frequent (79-30%) HP:0025336
23 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
24 orofacial dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002310
25 dystonic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0031954
26 spasticity 58 Frequent (79-30%)
27 muscular hypotonia 58 Frequent (79-30%)

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease, Classic Form

Search Clinical Trials , NIH Clinical Center for Pelizaeus-Merzbacher Disease, Classic Form

Genetic Tests for Pelizaeus-Merzbacher Disease, Classic Form

Anatomical Context for Pelizaeus-Merzbacher Disease, Classic Form

MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease, Classic Form:

40
Eye, Spinal Cord

Publications for Pelizaeus-Merzbacher Disease, Classic Form

Articles related to Pelizaeus-Merzbacher Disease, Classic Form:

# Title Authors PMID Year
1
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation. 61
33785861 2021
2
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. 61
30104812 2018
3
Neurogenetics of Pelizaeus-Merzbacher disease. 61
29478609 2018
4
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. 61
23711321 2014
5
PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report. 61
21082496 2010
6
Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. 61
20513814 2010
7
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. 61
18190592 2008
8
MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication. 61
10588103 1999
9
Corneal topography in atypical pellucid marginal degeneration. 61
10336026 1999

Variations for Pelizaeus-Merzbacher Disease, Classic Form

Expression for Pelizaeus-Merzbacher Disease, Classic Form

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

Pathways for Pelizaeus-Merzbacher Disease, Classic Form

GO Terms for Pelizaeus-Merzbacher Disease, Classic Form

Sources for Pelizaeus-Merzbacher Disease, Classic Form

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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