MCID: CHR147
MIFTS: 18

Charcot-Marie-Tooth Disease Type 2k

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2k

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2k:

Name: Charcot-Marie-Tooth Disease Type 2k 54 30 6
Charcot-Marie-Tooth Disease, Axonal, Type 2k 54 74
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k 54
Charcot Marie Tooth Disease Type 2k 54
Cmt 2k 54

Classifications:



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UMLS 74 C1842983

Summaries for Charcot-Marie-Tooth Disease Type 2k

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2k, also known as charcot-marie-tooth disease, axonal, type 2k, is related to charcot-marie-tooth disease, axonal, type 2k and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2k is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1).

Related Diseases for Charcot-Marie-Tooth Disease Type 2k

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 2k via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2k 33.4 GDAP1 JPH1
2 charcot-marie-tooth disease 30.5 GDAP1 JPH1
3 tooth disease 10.6
4 charcot-marie-tooth disease, type 4a 9.7 GDAP1 JPH1
5 myoclonic epilepsy associated with ragged-red fibers 9.6 GDAP1 JPH1
6 charcot-marie-tooth disease, axonal, type 2e 9.5 GDAP1 JPH1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2k:



Diseases related to Charcot-Marie-Tooth Disease Type 2k

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2k

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2k

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2k

Genetic Tests for Charcot-Marie-Tooth Disease Type 2k

Genetic tests related to Charcot-Marie-Tooth Disease Type 2k:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2k 30 GDAP1 JPH1

Anatomical Context for Charcot-Marie-Tooth Disease Type 2k

Publications for Charcot-Marie-Tooth Disease Type 2k

Articles related to Charcot-Marie-Tooth Disease Type 2k:

# Title Authors Year
1
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K. ( 28495047 )
2017
2
Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. ( 26648837 )
2015

Variations for Charcot-Marie-Tooth Disease Type 2k

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease Type 2k:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
2 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh37 Chromosome 8, 75272434: 75272434
3 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
4 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
5 GDAP1 NM_018972.3(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
6 GDAP1 NM_018972.3(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
7 GDAP1 NM_018972.3(GDAP1): c.469A> C (p.Thr157Pro) single nucleotide variant Pathogenic rs104894079 GRCh37 Chromosome 8, 75272530: 75272530
8 GDAP1 NM_018972.3(GDAP1): c.469A> C (p.Thr157Pro) single nucleotide variant Pathogenic rs104894079 GRCh38 Chromosome 8, 74360295: 74360295
9 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
10 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
11 GDAP1 NM_018972.3(GDAP1): c.652C> G (p.Gln218Glu) single nucleotide variant Pathogenic rs121908113 GRCh37 Chromosome 8, 75275246: 75275246
12 GDAP1 NM_018972.3(GDAP1): c.652C> G (p.Gln218Glu) single nucleotide variant Pathogenic rs121908113 GRCh38 Chromosome 8, 74363011: 74363011
13 GDAP1 NM_018972.3(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908114 GRCh37 Chromosome 8, 75275286: 75275286
14 GDAP1 NM_018972.3(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908114 GRCh38 Chromosome 8, 74363051: 74363051
15 GDAP1 NM_018972.3(GDAP1): c.719G> A (p.Cys240Tyr) single nucleotide variant Pathogenic rs121908115 GRCh37 Chromosome 8, 75276244: 75276244
16 GDAP1 NM_018972.3(GDAP1): c.719G> A (p.Cys240Tyr) single nucleotide variant Pathogenic rs121908115 GRCh38 Chromosome 8, 74364009: 74364009
17 GDAP1 NM_018972.3(GDAP1): c.678A> T (p.Arg226Ser) single nucleotide variant Pathogenic rs267606842 GRCh37 Chromosome 8, 75275272: 75275272
18 GDAP1 NM_018972.3(GDAP1): c.678A> T (p.Arg226Ser) single nucleotide variant Pathogenic rs267606842 GRCh38 Chromosome 8, 74363037: 74363037
19 GDAP1 NM_018972.3(GDAP1): c.467C> G (p.Ala156Gly) single nucleotide variant Pathogenic rs397515441 GRCh37 Chromosome 8, 75272528: 75272528
20 GDAP1 NM_018972.3(GDAP1): c.467C> G (p.Ala156Gly) single nucleotide variant Pathogenic rs397515441 GRCh38 Chromosome 8, 74360293: 74360293
21 GDAP1 NM_018972.3(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh37 Chromosome 8, 75272429: 75272429
22 GDAP1 NM_018972.3(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh38 Chromosome 8, 74360194: 74360194
23 GDAP1 NM_018972.3(GDAP1): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs397515443 GRCh37 Chromosome 8, 75276346: 75276346
24 GDAP1 NM_018972.3(GDAP1): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs397515443 GRCh38 Chromosome 8, 74364111: 74364111
25 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
26 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141
27 ELOC; GDAP1; JPH1; LINC01617; LY96; TMEM70; UBE2W NC_000008.11: g.73876981_74367518del490538 deletion Uncertain significance GRCh38 Chromosome 8, 73876981: 74367518
28 ELOC; GDAP1; JPH1; LINC01617; LY96; TMEM70; UBE2W NC_000008.11: g.73876981_74367518del490538 deletion Uncertain significance GRCh37 Chromosome 8, 74789216: 75279753

Expression for Charcot-Marie-Tooth Disease Type 2k

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2k.

Pathways for Charcot-Marie-Tooth Disease Type 2k

GO Terms for Charcot-Marie-Tooth Disease Type 2k

Sources for Charcot-Marie-Tooth Disease Type 2k

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