MCID: PLR023
MIFTS: 4

Polr3-Related Leukodystrophy

Aliases & Classifications for Polr3-Related Leukodystrophy

MalaCards integrated aliases for Polr3-Related Leukodystrophy:

Name: Polr3-Related Leukodystrophy 24 29
4h Leukodystrophy 24

Summaries for Polr3-Related Leukodystrophy

MalaCards based summary : Polr3-Related Leukodystrophy, also known as 4h leukodystrophy, is related to leukodystrophy. An important gene associated with Polr3-Related Leukodystrophy is POLR3B (RNA Polymerase III Subunit B).

GeneReviews: NBK99167

Related Diseases for Polr3-Related Leukodystrophy

Diseases related to Polr3-Related Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukodystrophy 10.1

Symptoms & Phenotypes for Polr3-Related Leukodystrophy

Drugs & Therapeutics for Polr3-Related Leukodystrophy

Search Clinical Trials , NIH Clinical Center for Polr3-Related Leukodystrophy

Genetic Tests for Polr3-Related Leukodystrophy

Genetic tests related to Polr3-Related Leukodystrophy:

# Genetic test Affiliating Genes
1 Polr3-Related Leukodystrophy 29

Anatomical Context for Polr3-Related Leukodystrophy

Publications for Polr3-Related Leukodystrophy

Articles related to Polr3-Related Leukodystrophy:

# Title Authors Year
1
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. ( 26045207 )
2015

Variations for Polr3-Related Leukodystrophy

Expression for Polr3-Related Leukodystrophy

Search GEO for disease gene expression data for Polr3-Related Leukodystrophy.

Pathways for Polr3-Related Leukodystrophy

GO Terms for Polr3-Related Leukodystrophy

Sources for Polr3-Related Leukodystrophy

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
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