MCID: PLZ006
MIFTS: 9

Pelizaeus-Merzbacher Disease, Connatal Form

Categories: Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Pelizaeus-Merzbacher Disease, Connatal Form

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

Name: Pelizaeus-Merzbacher Disease, Connatal Form 56
Pelizaeus-Merzbacher Disease Type Ii 56
Connatal Pmd 56
Severe Pmd 56

Characteristics:

Orphanet epidemiological data:

56
pelizaeus-merzbacher disease, connatal form
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Orphanet 56 ORPHA280210
ICD10 via Orphanet 34 E75.2

Summaries for Pelizaeus-Merzbacher Disease, Connatal Form

MalaCards based summary : Pelizaeus-Merzbacher Disease, Connatal Form, also known as pelizaeus-merzbacher disease type ii, is related to pelizaeus-merzbacher disease and pelizaeus-merzbacher-like disease. An important gene associated with Pelizaeus-Merzbacher Disease, Connatal Form is PLP1 (Proteolipid Protein 1). Affiliated tissues include eye.

Related Diseases for Pelizaeus-Merzbacher Disease, Connatal Form

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

id Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 11.1
2 pelizaeus-merzbacher-like disease 10.8

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease, Connatal Form

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease, Connatal Form

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

Genetic Tests for Pelizaeus-Merzbacher Disease, Connatal Form

Anatomical Context for Pelizaeus-Merzbacher Disease, Connatal Form

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

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Eye

Publications for Pelizaeus-Merzbacher Disease, Connatal Form

Variations for Pelizaeus-Merzbacher Disease, Connatal Form

Expression for Pelizaeus-Merzbacher Disease, Connatal Form

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

Pathways for Pelizaeus-Merzbacher Disease, Connatal Form

GO Terms for Pelizaeus-Merzbacher Disease, Connatal Form

Sources for Pelizaeus-Merzbacher Disease, Connatal Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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