CMT2K
MCID: CHR350
MIFTS: 36

Charcot-Marie-Tooth Disease, Axonal, Type 2k (CMT2K) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Axonal, Type 2k:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2k 54 13 69
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness 12 50 56
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k 12 50 56
Charcot-Marie-Tooth Disease Axonal Type 2k 12 66 14
Autosomal Recessive Axonal Cmt4c4 12 50 56
Arcmt2k 12 50 56
Cmt2k 56 66
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 50
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k 12
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 50
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k 56
Charcot-Marie-Tooth Neuropathy Axonal Type 2k 12
Charcot-Marie-Tooth Disease Neuronal Type 2k 66
Charcot-Marie-Tooth Neuropathy Type 2k 66
Charcot-Marie-Tooth Disease 2k 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive charcot-marie-tooth disease with hoarseness
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
autosomal dominant charcot-marie-tooth disease type 2k
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

HPO:

32
charcot-marie-tooth disease, axonal, type 2k:
Inheritance autosomal recessive inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607831
Disease Ontology 12 DOID:0110167
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
MeSH 42 D002607

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2k

UniProtKB/Swiss-Prot : 66 Charcot-Marie-Tooth disease 2K: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2k, also known as autosomal recessive charcot-marie-tooth disease with hoarseness, is related to charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, axonal, with vocal cord paresis, and has symptoms including decreased motor nerve conduction velocity, talipes equinovarus and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2k is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Factors involved in megakaryocyte development and platelet production. Related phenotype is muscle.

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.

Description from OMIM: 607831

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

Diseases in the Charcot-Marie-Toothe Disease, Axonal, Type 2p family:

Charcot-Marie-Tooth Disease, Axonal, Type 2t Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2f Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2k Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease, Axonal, Type 2u Charcot-Marie-Tooth Disease, Axonal, Type 2l
Charcot-Marie-Tooth Disease, Axonal, Type 20 Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease Axonal Type 2x
Charcot-Marie-Tooth Disease Axonal Type 2cc Charcot-Marie-Tooth Disease Axonal Type 2z

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2a1 31.5 KIF1B MFN2
2 charcot-marie-tooth disease, axonal, with vocal cord paresis 12.8
3 charcot-marie-tooth disease type 2k 11.5
4 charcot-marie-tooth disease type 2g 11.5
5 charcot-marie-tooth neuropathy type 2h/2k 11.4
6 joubert syndrome 21 10.3 DNAJB2 GDAP1
7 muscular dystrophy, congenital 10.2 DNAJB2 GDAP1 JPH1
8 glaucoma 1, open angle, 1o 10.2 DNAJB2 GDAP1 JPH1
9 y chromosome infertility 10.2 TUBB TUBB2A TUBB3
10 cervical neuroblastoma 10.2 TUBB TUBB2A
11 digital clubbing, isolated congenital 10.2 KIF1A MFN2
12 aneurysmal bone cysts 10.2 KIF1B TRPV4
13 charles bonnet syndrome 10.2 KIF1B MFN2
14 charcot-marie-tooth disease, type 2a2 10.2 DNAJB2 MFN2
15 cold-induced sweating syndrome including crisponi syndrome 10.1 KIF1B MFN2
16 chondrodysplasia punctata 2, x-linked 10.1 KIF1B TRPV4
17 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.1 KIF1B RAB7A
18 5-oxoprolinase deficiency 10.1 GDAP1 MFN2 TRPV4
19 pituitary adenoma, prolactin-secreting 10.0 DNAJB2 MFN2 TRPV4
20 fibrosis of extraocular muscles, congenital, 3a 10.0 KIF1A MFN2
21 neuropathy, inflammatory demyelinating 10.0 DYNC1H1 GDAP1 KIF1B MFN2
22 infantile epileptic encephalopathy 10.0 DYNC1H1 GDAP1 KIF1B MFN2
23 ovarian stromal hyperthecosis 10.0 KIF5A MFN2 TRPV4
24 hereditary cerebral amyloid angiopathy 10.0 HSPB3 HSPB8 TUBB
25 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.0 HSPB3 HSPB8 KIF1B
26 dejerine-sottas disease 10.0 GDAP1 KIF1B MFN2 TRPV4
27 uterine ligament serous adenocarcinoma 10.0 GDAP1 MFN2 NAA50 TUBB3
28 spondylolisthesis 9.9 DNAJB2 DYNC1H1 TRPV4
29 parastremmatic dwarfism 9.8 GDAP1 KIF1B MFN2 RAB7A TRPV4
30 carotid body cancer 9.8 DNM2 GDAP1 KIF1A MFN2 TRPV4
31 conotruncal heart malformations 9.7 DNAJB2 GDAP1 HSPB8 KIF1B MFN2 TRPV4
32 thrombophilia due to antithrombin iii deficiency 9.7 DNAJB2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
33 charcot-marie-tooth disease, type 2j 9.5 DNAJB2 DYNC1H1 GDAP1 HSPB3 HSPB8 JPH1
34 wernicke-korsakoff syndrome 9.4 DNM2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
35 chromophobe renal cell carcinoma 9.2 DNAJB2 DNM2 DYNC1H1 GDAP1 HSPB8 JPH1
36 mitochondrial complex v deficiency, nuclear type 2 7.9 DNAJB2 DNM2 DYNC1H1 FIS1 GDAP1 HSPB3

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



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

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

Symptoms by clinical synopsis from OMIM:

607831

Clinical features from OMIM:

607831

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2k:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 decreased motor nerve conduction velocity 32 HP:0003431
2 talipes equinovarus 32 HP:0001762
3 areflexia 32 HP:0001284
4 split hand 32 HP:0001171
5 kyphoscoliosis 32 HP:0002751
6 distal muscle weakness 32 HP:0002460
7 proximal muscle weakness 32 HP:0003701
8 distal sensory impairment 32 HP:0002936
9 distal amyotrophy 32 HP:0003693
10 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
11 axonal regeneration 32 HP:0003450

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2k:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 DNM2 DYNC1H1 HSPB8 JPH1 KIF1B MFN2

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

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

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

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

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2k

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2k

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2k:

66
id Symbol AA change Variation ID SNP ID
1 GDAP1 p.His256Arg VAR_067086
2 GDAP1 p.Arg282His VAR_067087 rs375431837
3 GDAP1 p.Arg120Gly VAR_078265
4 GDAP1 p.Arg120Trp VAR_078266
5 GDAP1 p.His123Arg VAR_078267
6 GDAP1 p.Ala156Gly VAR_078269
7 GDAP1 p.Arg310Trp VAR_078273

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
2 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
3 GDAP1 NM_018972.2(GDAP1): c.469A> C (p.Thr157Pro) single nucleotide variant Pathogenic rs104894079 GRCh37 Chromosome 8, 75272530: 75272530
4 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
5 GDAP1 NM_018972.2(GDAP1): c.652C> G (p.Gln218Glu) single nucleotide variant Pathogenic rs121908113 GRCh37 Chromosome 8, 75275246: 75275246
6 GDAP1 NM_018972.2(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908114 GRCh37 Chromosome 8, 75275286: 75275286
7 GDAP1 NM_018972.2(GDAP1): c.719G> A (p.Cys240Tyr) single nucleotide variant Pathogenic rs121908115 GRCh37 Chromosome 8, 75276244: 75276244
8 GDAP1 NM_018972.2(GDAP1): c.678A> T (p.Arg226Ser) single nucleotide variant Pathogenic rs267606842 GRCh37 Chromosome 8, 75275272: 75275272
9 GDAP1 NM_018972.2(GDAP1): c.467C> G (p.Ala156Gly) single nucleotide variant Pathogenic rs397515441 GRCh37 Chromosome 8, 75272528: 75272528
10 GDAP1 NM_018972.2(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh37 Chromosome 8, 75272429: 75272429
11 GDAP1 NM_018972.2(GDAP1): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs397515443 GRCh37 Chromosome 8, 75276346: 75276346

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2k

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

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2k

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

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2k according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.56 DNM2 DYNC1H1 KIF1A KIF1B KIF5A TUBB
2 kinesin complex GO:0005871 9.5 KIF1A KIF1B KIF5A
3 microtubule cytoskeleton GO:0015630 9.46 MFN2 TUBB TUBB2A TUBB3
4 integral component of mitochondrial outer membrane GO:0031307 9.37 FIS1 GDAP1
5 microtubule GO:0005874 9.23 DNM2 DYNC1H1 KIF1A KIF1B KIF5A TUBB
6 cytoplasm GO:0005737 10.1 DNAJB2 DNM2 DYNC1H1 GDAP1 HSPB3 HSPB8

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2k according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.63 DNM2 DYNC1H1 TUBB
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.62 DNM2 DYNC1H1 KIF5A RAB7A
3 response to unfolded protein GO:0006986 9.61 DNAJB2 HSPB3 MFN2
4 microtubule-based process GO:0007017 9.58 TUBB TUBB2A TUBB3
5 protein targeting to mitochondrion GO:0006626 9.54 FIS1 GDAP1 MFN2
6 anterograde axonal transport GO:0008089 9.48 KIF1A KIF1B
7 microtubule-based movement GO:0007018 9.46 DYNC1H1 KIF1A KIF1B KIF5A
8 mitochondrial fission GO:0000266 9.43 DNM2 FIS1 GDAP1
9 cytoskeleton-dependent intracellular transport GO:0030705 9.13 KIF1B KIF5A TUBB
10 mitochondrial fusion GO:0008053 8.8 FIS1 GDAP1 MFN2

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2k according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.71 DNM2 DYNC1H1 TRPV4 TUBB
2 microtubule binding GO:0008017 9.65 DNM2 KIF1A KIF1B KIF5A TRPV4
3 motor activity GO:0003774 9.62 DYNC1H1 KIF1A KIF1B KIF5A
4 structural constituent of cytoskeleton GO:0005200 9.54 TUBB TUBB2A TUBB3
5 microtubule motor activity GO:0003777 9.46 DYNC1H1 KIF1A KIF1B KIF5A
6 GTP binding GO:0005525 9.43 DNM2 MFN2 RAB7A TUBB TUBB2A TUBB3
7 GTPase activity GO:0003924 9.1 DNM2 MFN2 RAB7A TUBB TUBB2A TUBB3

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2k

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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