MCID: PLZ007
MIFTS: 8

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 60
Classic Pmd 60

Characteristics:

Orphanet epidemiological data:

60
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:

ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C0751916
Orphanet 60 ORPHA280219

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 11.2

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:

42
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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