MCID: CHR350
MIFTS: 42

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2k 57 13 73
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness 12 53 59
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k 12 53 59
Charcot-Marie-Tooth Disease Axonal Type 2k 12 75 15
Autosomal Recessive Axonal Cmt4c4 12 53 59
Arcmt2k 12 53 59
Cmt2k 57 59 75
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 53
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k 12
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k 57
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k 57
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 53
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k 59
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k 57
Charcot-Marie-Tooth Neuropathy Axonal Type 2k 12
Charcot-Marie-Tooth Disease Neuronal Type 2k 75
Charcot-Marie-Tooth Neuropathy Type 2k 75
Charcot-Marie-Tooth Disease, Type 2k 40
Charcot-Marie-Tooth Disease 2k 75

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in feet and legs (peroneal distribution)
allelic disorder to cmt4a
onset before age 3 years
upper limb involvement in first decade
severe progression
patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset
genetic heterogeneity (see cmt2a )


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607831
Disease Ontology 12 DOID:0110167
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1842983 C1842984
MeSH 44 D002607
UMLS 73 C1842983

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101097Disease definitionAutosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.EpidemiologyARCMT2K was originally described in three Spanish families and has since been described in five additional Spanish kindreds, as well as in families from Morocco, France and Poland.Clinical descriptionOnset occurs in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype; see this term) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies in ARCMT2K patients are indicative of a predominantly axonal neuropathy with some demyelinating features.EtiologyARCMT2K is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Mutations in the same gene are associated with CMT4A and with a milder, later-onset autosomal dominant axonal form of CMT, CMT2K (see this term).PrognosisThe prognosis for ARCMT2K may be severe, with two of the reported patients dying during in the fifth decade of life.Visit the Orphanet disease page for more resources.

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 2k and tooth disease. 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 Vesicle-mediated transport and Golgi-to-ER retrograde transport. Related phenotypes are decreased motor nerve conduction velocity and talipes equinovarus

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.

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 607831

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

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2k 33.7 GDAP1 JPH1
2 tooth disease 28.3 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2 TRPV4
3 charcot-marie-tooth disease 26.1 DNAJB2 DNM2 DYNC1H1 GDAP1 HSPB8 JPH1
4 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.8
5 charcot-marie-tooth disease, axonal, type 2h 10.7 DNAJB2 GDAP1
6 charcot-marie-tooth disease, axonal, type 2b2 10.7 DNAJB2 JPH1
7 charcot-marie-tooth disease, type 4a 10.6 GDAP1 JPH1 TUBB3
8 charcot-marie-tooth disease, axonal, type 2b1 10.6 DNAJB2 JPH1
9 lung mucoepidermoid carcinoma 10.6 TUBB TUBB2A
10 tubulin, beta 10.4 TUBB TUBB2A TUBB3
11 charcot-marie-tooth disease type 2a2 10.3 DNAJB2 MFN2
12 charcot-marie-tooth disease, axonal, type 2n 10.3 KIF1B TRPV4
13 charcot-marie-tooth neuropathy type 2a 10.3 KIF1B MFN2
14 charcot-marie-tooth disease type 2a 10.3 KIF1B MFN2
15 charcot-marie-tooth disease, axonal, type 2a1 10.3 KIF1B MFN2
16 chondroid chordoma 10.3 TUBB2A TUBB3
17 neuropathy, hereditary, with liability to pressure palsies 10.1 GDAP1 KIF1B MFN2
18 charcot-marie-tooth disease, demyelinating, type 1a 10.1 GDAP1 KIF1B MFN2
19 charcot-marie-tooth disease and deafness 10.1 GDAP1 KIF1B MFN2
20 charcot-marie-tooth disease, axonal, type 2b 10.1 DNM2 KIF1B RAB7A
21 charcot-marie-tooth disease, axonal, type 2f 10.0 HSPB3 KIF1B
22 muscular atrophy 10.0 DNAJB2 DYNC1H1 TRPV4
23 motor peripheral neuropathy 9.9 KIF1B MFN2
24 charcot-marie-tooth disease, type 4d 9.9 GDAP1 MFN2 TRPV4
25 mitochondrial complex i deficiency 9.9
26 tabes dorsalis 9.9 NAA50 RAB7A
27 distal hereditary motor neuropathy, type ii 9.9 HSPB3 HSPB8 TUBB
28 charcot-marie-tooth disease, axonal, type 2l 9.8 HSPB3 HSPB8 KIF1B
29 peripheral nervous system disease 9.7 GDAP1 MFN2 NAA50 TUBB3
30 axonal neuropathy 9.7 GDAP1 KIF5A MFN2 TRPV4
31 neuropathy 9.7 DNM2 GDAP1 KIF1A MFN2
32 charcot-marie-tooth disease, axonal, type 2e 9.6 DNAJB2 GDAP1 JPH1 KIF1B MFN2
33 spinal muscular atrophy 9.5 DNAJB2 DYNC1H1 TRPV4
34 hereditary motor and sensory neuropathy, type iic 9.1 GDAP1 KIF1B MFN2 RAB7A TRPV4
35 trehalase deficiency 9.0 DYNC1H1 KIF1A MFN2 TRPV4 TUBB TUBB3
36 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 8.8 DNM2 DYNC1H1 GDAP1 HSPB8 JPH1 KIF1B

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 via clinical synopsis from OMIM:

57
Skeletal Feet:
talipes equinovarus

Skeletal Spine:
kyphoscoliosis

Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
proximal muscle involvement may occur
more
Skeletal Hands:
claw hand deformities


Clinical features from OMIM:

607831

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

32 (show all 11)
# 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 amyotrophy 32 HP:0003693
9 distal sensory impairment 32 HP:0002936
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.9 DNM2 DYNC1H1 HSPB8 JPH1 KIF1A KIF1B
2 muscle MP:0005369 9.5 DNM2 DYNC1H1 HSPB8 JPH1 KIF1B MFN2
3 nervous system MP:0003631 9.32 TUBB3 DNM2 DYNC1H1 GDAP1 KIF1A KIF1B

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

Articles related to Charcot-Marie-Tooth Disease, Axonal, 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

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

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

75
# 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 rs104894078
5 GDAP1 p.His123Arg VAR_078267 rs397515442
6 GDAP1 p.Ala156Gly VAR_078269 rs397515441
7 GDAP1 p.Arg310Trp VAR_078273 rs538389475

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

6
(show all 28)
# 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.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
3 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
4 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
5 GDAP1 NM_018972.2(GDAP1): c.469A> C (p.Thr157Pro) single nucleotide variant Pathogenic rs104894079 GRCh37 Chromosome 8, 75272530: 75272530
6 GDAP1 NM_018972.2(GDAP1): c.469A> C (p.Thr157Pro) single nucleotide variant Pathogenic rs104894079 GRCh38 Chromosome 8, 74360295: 74360295
7 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
8 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
9 GDAP1 NM_018972.2(GDAP1): c.652C> G (p.Gln218Glu) single nucleotide variant Pathogenic rs121908113 GRCh37 Chromosome 8, 75275246: 75275246
10 GDAP1 NM_018972.2(GDAP1): c.652C> G (p.Gln218Glu) single nucleotide variant Pathogenic rs121908113 GRCh38 Chromosome 8, 74363011: 74363011
11 GDAP1 NM_018972.2(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908114 GRCh37 Chromosome 8, 75275286: 75275286
12 GDAP1 NM_018972.2(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908114 GRCh38 Chromosome 8, 74363051: 74363051
13 GDAP1 NM_018972.2(GDAP1): c.719G> A (p.Cys240Tyr) single nucleotide variant Pathogenic rs121908115 GRCh37 Chromosome 8, 75276244: 75276244
14 GDAP1 NM_018972.2(GDAP1): c.719G> A (p.Cys240Tyr) single nucleotide variant Pathogenic rs121908115 GRCh38 Chromosome 8, 74364009: 74364009
15 GDAP1 NM_018972.2(GDAP1): c.678A> T (p.Arg226Ser) single nucleotide variant Pathogenic rs267606842 GRCh37 Chromosome 8, 75275272: 75275272
16 GDAP1 NM_018972.2(GDAP1): c.678A> T (p.Arg226Ser) single nucleotide variant Pathogenic rs267606842 GRCh38 Chromosome 8, 74363037: 74363037
17 GDAP1 NM_018972.2(GDAP1): c.467C> G (p.Ala156Gly) single nucleotide variant Pathogenic rs397515441 GRCh37 Chromosome 8, 75272528: 75272528
18 GDAP1 NM_018972.2(GDAP1): c.467C> G (p.Ala156Gly) single nucleotide variant Pathogenic rs397515441 GRCh38 Chromosome 8, 74360293: 74360293
19 GDAP1 NM_018972.2(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh37 Chromosome 8, 75272429: 75272429
20 GDAP1 NM_018972.2(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh38 Chromosome 8, 74360194: 74360194
21 GDAP1 NM_018972.2(GDAP1): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs397515443 GRCh37 Chromosome 8, 75276346: 75276346
22 GDAP1 NM_018972.2(GDAP1): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs397515443 GRCh38 Chromosome 8, 74364111: 74364111
23 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh38 Chromosome 8, 74350523: 74350523
24 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh37 Chromosome 8, 75262758: 75262758
25 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
26 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh38 Chromosome 8, 74360173: 74360173
27 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
28 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141

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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 DNM2 DYNC1H1 KIF1A KIF1B KIF5A RAB7A
2
Show member pathways
12.43 DYNC1H1 KIF1A KIF1B KIF5A
3 12.21 DNM2 KIF1B RAB7A TUBB TUBB3
4
Show member pathways
11.92 TUBB TUBB2A TUBB3
5 11.9 KIF1A KIF1B KIF5A MFN2
6
Show member pathways
11.81 TUBB TUBB2A TUBB3
7
Show member pathways
11.59 KIF5A TUBB TUBB2A TUBB3
8 11.58 TUBB TUBB2A TUBB3
9 11.47 DNM2 DYNC1H1 KIF5A RAB7A
10 11.42 FIS1 MFN2 RAB7A
11 11.23 DYNC1H1 TUBB TUBB2A TUBB3
12 11.2 DYNC1H1 RAB7A TUBB TUBB2A TUBB3
13 11.05 DNM2 RAB7A TUBB2A TUBB3

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:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.62 DNM2 KIF1A KIF1B TUBB3
2 cytoskeleton GO:0005856 9.56 DNM2 DYNC1H1 KIF1A KIF1B KIF5A TUBB
3 integral component of mitochondrial outer membrane GO:0031307 9.37 FIS1 GDAP1
4 kinesin complex GO:0005871 9.33 KIF1A KIF1B KIF5A
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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.69 TUBB TUBB2A TUBB3
2 G2/M transition of mitotic cell cycle GO:0000086 9.67 DNM2 DYNC1H1 TUBB
3 microtubule cytoskeleton organization GO:0000226 9.63 TUBB TUBB2A TUBB3
4 microtubule-based movement GO:0007018 9.62 DYNC1H1 KIF1A KIF1B KIF5A
5 response to unfolded protein GO:0006986 9.61 DNAJB2 HSPB3 MFN2
6 microtubule-based process GO:0007017 9.58 TUBB TUBB2A TUBB3
7 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.56 DNM2 DYNC1H1 KIF5A RAB7A
8 protein targeting to mitochondrion GO:0006626 9.54 FIS1 GDAP1 MFN2
9 synaptic vesicle transport GO:0048489 9.48 DNM2 KIF5A
10 mitochondrial fission GO:0000266 9.33 DNM2 FIS1 GDAP1
11 mitochondrial fusion GO:0008053 9.13 FIS1 GDAP1 MFN2
12 cytoskeleton-dependent intracellular transport GO:0030705 8.92 KIF1A KIF1B KIF5A TUBB

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 DNM2 DYNC1H1 RAB7A TRPV4 TUBB
2 ATPase activity GO:0016887 9.73 DYNC1H1 KIF1A KIF1B KIF5A
3 structural constituent of cytoskeleton GO:0005200 9.65 TUBB TUBB2A TUBB3
4 microtubule binding GO:0008017 9.65 DNM2 KIF1A KIF1B KIF5A TRPV4
5 microtubule motor activity GO:0003777 9.62 DYNC1H1 KIF1A KIF1B KIF5A
6 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.54 KIF1A KIF1B KIF5A
7 motor activity GO:0003774 9.46 DYNC1H1 KIF1A KIF1B KIF5A
8 GTP binding GO:0005525 9.43 DNM2 MFN2 RAB7A TUBB TUBB2A TUBB3
9 GTPase activity GO:0003924 9.1 DNM2 MFN2 RAB7A TUBB TUBB2A TUBB3
10 protein binding GO:0005515 10.36 DNAJB2 DNM2 DYNC1H1 FIS1 GDAP1 HSPB8

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

3 CDC
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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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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