MCID: CHR315
MIFTS: 11

Charcot-Marie-Tooth Neuropathy Type 4j

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 4j:

Name: Charcot-Marie-Tooth Neuropathy Type 4j 23 24
Cmt4j 23 24
Charcot-Marie-Tooth Disease, Type 4j 69
Charcot-Marie-Tooth Disease Type 4j 23
Charcot Marie Tooth Disease Type 4j 24
Cmt 4j 24

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 4j, also known as cmt4j, is related to charcot-marie-tooth disease, type 4j and neuropathy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 4j is FIG4 (FIG4 Phosphoinositide 5-Phosphatase).

GeneReviews: NBK169431

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 4j

Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2g Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Charcot-Marie-Tooth Neuropathy X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

Diseases related to Charcot-Marie-Tooth Neuropathy Type 4j via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4j 12.8
2 neuropathy 10.3
3 charcot-marie-tooth neuropathy 10.3
4 charcot-marie-tooth disease 10.2
5 chronic inflammatory demyelinating polyneuropathy 10.2
6 tooth disease 10.2
7 polyneuropathy 10.2
8 demyelinating polyneuropathy 10.2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 4j:



Diseases related to Charcot-Marie-Tooth Neuropathy Type 4j

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 4j

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 4j

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 4j

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 4j

Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 4j:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 4j 24 FIG4

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 4j

Publications for Charcot-Marie-Tooth Neuropathy Type 4j

Articles related to Charcot-Marie-Tooth Neuropathy Type 4j:

id Title Authors Year
1
Charcot-Marie-Tooth Neuropathy Type 4J ( 24228289 )
1993

Variations for Charcot-Marie-Tooth Neuropathy Type 4j

ClinVar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 4j:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 FIG4, 1-BP DEL, 294T deletion Pathogenic
2 FIG4 NM_014845.5(FIG4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121908288 GRCh37 Chromosome 6, 110056402: 110056402
3 FIG4 FIG4, 8-BP DEL, NT1043 deletion Pathogenic
4 FIG4 FIG4, 1-BP DEL, 759G deletion Pathogenic
5 FIG4 NM_014845.5(FIG4): c.50T> C (p.Leu17Pro) single nucleotide variant Pathogenic rs587777713 GRCh38 Chromosome 6, 109691485: 109691485
6 FIG4 NM_014845.5(FIG4): c.904G> A (p.Glu302Lys) single nucleotide variant Pathogenic rs587777714 GRCh37 Chromosome 6, 110064340: 110064340
7 FIG4 NM_014845.5(FIG4): c.290-2A> T single nucleotide variant Pathogenic rs587777715 GRCh38 Chromosome 6, 109727107: 109727107
8 FIG4 NM_014845.5(FIG4): c.1141C> T (p.Arg381Ter) single nucleotide variant Pathogenic rs377357931 GRCh37 Chromosome 6, 110081456: 110081456

Expression for Charcot-Marie-Tooth Neuropathy Type 4j

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 4j.

Pathways for Charcot-Marie-Tooth Neuropathy Type 4j

GO Terms for Charcot-Marie-Tooth Neuropathy Type 4j

Sources for Charcot-Marie-Tooth Neuropathy Type 4j

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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42 MeSH
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44 MGI
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48 NDF-RT
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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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