MCID: PLZ008
MIFTS: 13

Pelizaeus-Merzbacher Disease, Transitional Form

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pelizaeus-Merzbacher Disease, Transitional Form

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

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 71 C0751917
Orphanet 58 ORPHA280224

Summaries for Pelizaeus-Merzbacher Disease, Transitional Form

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

Related Diseases for Pelizaeus-Merzbacher Disease, Transitional Form

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

# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 10.3

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease, Transitional Form

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

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cns hypomyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0003429
3 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease, Transitional Form

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

Genetic Tests for Pelizaeus-Merzbacher Disease, Transitional Form

Anatomical Context for Pelizaeus-Merzbacher Disease, Transitional Form

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

40
Eye

Publications for Pelizaeus-Merzbacher Disease, Transitional Form

Articles related to Pelizaeus-Merzbacher Disease, Transitional Form:

# Title Authors PMID Year
1
Neurogenetics of Pelizaeus-Merzbacher disease. 61
29478609 2018
2
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. 61
15689360 2005
3
[A case of Pelizaeus-Merzbacher disease (transitional form) with recurrence of transient exacerbations (author's transl)]. 61
477135 1979

Variations for Pelizaeus-Merzbacher Disease, Transitional Form

Expression for Pelizaeus-Merzbacher Disease, Transitional Form

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

Pathways for Pelizaeus-Merzbacher Disease, Transitional Form

GO Terms for Pelizaeus-Merzbacher Disease, Transitional Form

Sources for Pelizaeus-Merzbacher Disease, Transitional 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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