MCID: PLZ007
MIFTS: 8

Pelizaeus-Merzbacher Disease, Classic Form

Categories: Neuronal diseases, Eye 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 55
Classic Pmd 55

Characteristics:

Orphanet epidemiological data:

55
pelizaeus-merzbacher disease, classic form
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:



External Ids:

Orphanet 55 ORPHA280219
UMLS via Orphanet 70 C0751916
ICD10 via Orphanet 33 E75.2

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.

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 11.0

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease, Classic Form

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:

38
Eye

Publications for Pelizaeus-Merzbacher Disease, Classic Form

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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