MCID: PLP005
MIFTS: 5

Plp1-Related Disorders

Aliases & Classifications for Plp1-Related Disorders

MalaCards integrated aliases for Plp1-Related Disorders:

Name: Plp1-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Plp1 pathogenic variants are believed to be completely penetrant in males. the complete conservation of amino acid sequence between rodent and human plp1 suggests that any variation from the normal sequence may be detrimental...

Summaries for Plp1-Related Disorders

MalaCards based summary : Plp1-Related Disorders is related to pelizaeus-merzbacher disease and cerebritis. An important gene associated with Plp1-Related Disorders is PLP1 (Proteolipid Protein 1).

GeneReviews: NBK1182

Related Diseases for Plp1-Related Disorders

Diseases related to Plp1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 10.9
2 cerebritis 9.9

Symptoms & Phenotypes for Plp1-Related Disorders

Drugs & Therapeutics for Plp1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Plp1-Related Disorders

Genetic Tests for Plp1-Related Disorders

Anatomical Context for Plp1-Related Disorders

Publications for Plp1-Related Disorders

Articles related to Plp1-Related Disorders:

# Title Authors Year
1
Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders. ( 28735559 )
2017
2
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders. ( 26786043 )
2016
3
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. ( 21679407 )
2011
4
PLP1-Related Disorders ( 20301361 )
1993

Variations for Plp1-Related Disorders

Expression for Plp1-Related Disorders

Search GEO for disease gene expression data for Plp1-Related Disorders.

Pathways for Plp1-Related Disorders

GO Terms for Plp1-Related Disorders

Sources for Plp1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....