MCID: CHR315
MIFTS: 8

Charcot-Marie-Tooth Neuropathy Type 4j

Categories: Neuronal 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
Charcot-Marie-Tooth Disease, Type 4j 69
Charcot-Marie-Tooth Disease Type 4j 23
Cmt4j 23

Classifications:



External Ids:

UMLS 69 C1970011

Summaries for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 4j, also known as charcot-marie-tooth disease, type 4j, is related to charcot-marie-tooth disease, type 4j and neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive. 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 Hereditary Neuropathy family:

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

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4j 11.3
2 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 11.1
3 neuropathy 10.4
4 charcot-marie-tooth disease 9.9

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

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:

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