CMT2K
MCID: CHR350
MIFTS: 47

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

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 58 13 74
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness 12 54 60
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k 12 54 60
Charcot-Marie-Tooth Disease Axonal Type 2k 12 76 15
Autosomal Recessive Axonal Cmt4c4 12 54 60
Arcmt2k 12 54 60
Cmt2k 58 60 76
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 54
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k 12
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k 58
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 54
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k 60
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2k 12
Charcot-Marie-Tooth Disease Neuronal Type 2k 76
Charcot-Marie-Tooth Neuropathy Type 2k 76
Charcot-Marie-Tooth Disease, Type 2k 41
Charcot-Marie-Tooth Disease 2k 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
charcot-marie-tooth disease, axonal, type 2k:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110167
OMIM 58 607831
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1842983 C1842984
UMLS 74 C1842983

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

NIH Rare Diseases : 54 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 Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, lung and skin, and related phenotypes are gait disturbance and arrhythmia

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 : 76 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. 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 Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2k 33.4 GDAP1 JPH1
2 tooth disease 29.2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2 NEFL
3 charcot-marie-tooth disease 28.1 DNAJB2 DNM2 DYNC1H1 GDAP1 HSPB8 JPH1
4 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 12.0
5 charcot-marie-tooth disease type 2g 11.8
6 charcot-marie-tooth disease, axonal, type 2h 10.4 DNAJB2 GDAP1
7 charcot-marie-tooth disease, axonal, type 2b1 10.3 DNAJB2 JPH1
8 lung mucoepidermoid carcinoma 10.3 TUBB TUBB2A
9 charcot-marie-tooth disease, axonal, type 2b2 10.3 DNAJB2 JPH1
10 charcot-marie-tooth disease type 2a2 10.3 DNAJB2 MFN2
11 charcot-marie-tooth neuropathy type 2a 10.2 KIF1B MFN2
12 charcot-marie-tooth disease, axonal, type 2n 10.2 KIF1B TRPV4
13 charcot-marie-tooth disease type 2a 10.2 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2a1 10.2 KIF1B MFN2
15 charcot-marie-tooth disease, type 4a 10.2 GDAP1 JPH1
16 charcot-marie-tooth disease, demyelinating, type 1a 10.1 GDAP1 KIF1B MFN2
17 charcot-marie-tooth disease, axonal, type 2b 10.1 DNM2 KIF1B RAB7A
18 charcot-marie-tooth disease and deafness 10.1 GDAP1 KIF1B MFN2
19 charcot-marie-tooth disease, axonal, type 2f 10.1 HSPB3 KIF1B
20 charcot-marie-tooth disease, demyelinating, type 1c 10.1 KIF1B NEFL
21 charcot-marie-tooth disease, type 4d 10.1 GDAP1 MFN2 TRPV4
22 mitochondrial complex i deficiency, nuclear type 1 10.1
23 distal hereditary motor neuropathy, type ii 10.1 HSPB3 HSPB8 TUBB
24 muscular atrophy 10.1 DNAJB2 DYNC1H1 TRPV4
25 optic atrophy 1 10.1 MFN2 OPA1
26 neuropathy 10.0 DNM2 GDAP1 KIF1A MFN2
27 neuropathy, hereditary, with liability to pressure palsies 10.0 DYNC1H1 GDAP1 KIF1B MFN2
28 neurogenic arthropathy 10.0 NAA50 RAB7A
29 charcot-marie-tooth disease, axonal, type 2l 10.0 HSPB3 HSPB8 KIF1B
30 axonal neuropathy 10.0 GDAP1 KIF5A MFN2 TRPV4
31 tabes dorsalis 9.9 NAA50 RAB7A
32 motor peripheral neuropathy 9.9 KIF1B MFN2
33 hereditary motor and sensory neuropathy, type iic 9.8 GDAP1 KIF1B MFN2 RAB7A TRPV4
34 optic nerve disease 9.7 FIS1 MFN2 OPA1
35 3-methylglutaconic aciduria, type iii 9.7 FIS1 MFN2 OPA1
36 charcot-marie-tooth disease, axonal, type 2e 9.7 DNAJB2 GDAP1 JPH1 KIF1B MFN2 NEFL
37 peripheral nervous system disease 9.4 DNM2 GDAP1 KIF1B MFN2 NAA50 NEFL

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

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

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
2 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
3 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
4 hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009130
5 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
6 peripheral demyelination 60 33 frequent (33%) Frequent (79-30%) HP:0011096
7 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
8 distal sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002936
9 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
10 skeletal muscle atrophy 60 Frequent (79-30%)
11 decreased motor nerve conduction velocity 33 HP:0003431
12 talipes equinovarus 33 HP:0001762
13 kyphoscoliosis 33 HP:0002751
14 areflexia 33 HP:0001284
15 split hand 33 HP:0001171
16 distal amyotrophy 33 HP:0003693
17 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
18 axonal regeneration 33 HP:0003450

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
talipes equinovarus

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 Spine:
kyphoscoliosis

Skeletal Hands:
claw hand deformities

Clinical features from OMIM:

607831

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 DNAJB2 DNM2 DYNC1H1 FIS1 GDAP1 HSPB3

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 DYNC1H1 GDAP1 JPH1 KIF1A KIF1B KIF5A
2 muscle MP:0005369 9.56 DNM2 DYNC1H1 HSPB8 JPH1 KIF1B MFN2
3 nervous system MP:0003631 9.36 DNM2 DYNC1H1 GDAP1 KIF1A KIF1B KIF5A

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2k:

42
Skeletal Muscle, Lung, Skin

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
2
Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. ( 26648837 )
2015
3
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). ( 19089472 )
2009
4
Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation). ( 19381883 )
2009

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

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

76
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.His256Arg VAR_067086 rs147685642
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 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
2 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
3 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
4 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886
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.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
26 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh37 Chromosome 8, 75272434: 75272434
27 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
28 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141
29 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh38 Chromosome 8, 74364296: 74364296
30 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh37 Chromosome 8, 75276531: 75276531
31 ELOC; GDAP1; JPH1; LINC01617; LY96; TMEM70; UBE2W NC_000008.11: g.73876981_74367518del490538 deletion Uncertain significance GRCh37 Chromosome 8, 74789216: 75279753
32 ELOC; GDAP1; JPH1; LINC01617; LY96; TMEM70; UBE2W NC_000008.11: g.73876981_74367518del490538 deletion Uncertain significance GRCh38 Chromosome 8, 73876981: 74367518

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 DNM2 DYNC1H1 KIF1A KIF1B KIF5A TUBB
2 cytoplasmic vesicle GO:0031410 9.88 DNM2 KIF1B RAB7A RAB7B TRPV4
3 axon GO:0030424 9.81 DNM2 KIF1A KIF1B NEFL
4 growth cone GO:0030426 9.67 DNM2 NEFL TRPV4
5 mitochondrial outer membrane GO:0005741 9.56 FIS1 GDAP1 MFN2 OPA1
6 phagocytic vesicle membrane GO:0030670 9.54 DNM2 RAB7A RAB7B
7 kinesin complex GO:0005871 9.5 KIF1A KIF1B KIF5A
8 microtubule GO:0005874 9.5 DNM2 DYNC1H1 KIF1A KIF1B KIF5A TUBB
9 integral component of mitochondrial outer membrane GO:0031307 9.46 FIS1 GDAP1
10 axon cytoplasm GO:1904115 9.02 KIF1A KIF1B KIF5A NEFL OPA1
11 cytosol GO:0005829 10.21 DNAJB2 DNM2 DYNC1H1 GDAP1 HSPB8 KIF1A
12 cytoplasm GO:0005737 10.03 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 17)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.72 DNM2 DYNC1H1 TUBB
2 microtubule cytoskeleton organization GO:0000226 9.71 NEFL TUBB TUBB2A
3 response to unfolded protein GO:0006986 9.67 DNAJB2 HSPB3 MFN2
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.67 DNM2 DYNC1H1 KIF5A RAB7A
5 microtubule-based movement GO:0007018 9.62 DYNC1H1 KIF1A KIF1B KIF5A
6 anterograde axonal transport GO:0008089 9.61 KIF1A KIF1B NEFL
7 protein targeting to mitochondrion GO:0006626 9.58 FIS1 GDAP1 MFN2
8 mitochondrion morphogenesis GO:0070584 9.57 FIS1 OPA1
9 response to muscle activity GO:0014850 9.56 FIS1 OPA1
10 synaptic vesicle transport GO:0048489 9.52 DNM2 KIF5A
11 axonal transport of mitochondrion GO:0019896 9.51 NEFL OPA1
12 phagosome-lysosome fusion GO:0090385 9.48 RAB7A RAB7B
13 anterograde neuronal dense core vesicle transport GO:1990048 9.46 KIF1A KIF1B
14 mitochondrial fission GO:0000266 9.43 FIS1 GDAP1 OPA1
15 cytoskeleton-dependent intracellular transport GO:0030705 9.33 KIF1A KIF1B TUBB
16 retrograde neuronal dense core vesicle transport GO:1990049 9.13 KIF1A KIF1B KIF5A
17 mitochondrial fusion GO:0008053 8.92 FIS1 GDAP1 MFN2 OPA1

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 OPA1 RAB7A TRPV4 TUBB
2 motor activity GO:0003774 9.71 DYNC1H1 KIF1A KIF1B KIF5A
3 structural constituent of cytoskeleton GO:0005200 9.63 NEFL TUBB TUBB2A
4 microtubule binding GO:0008017 9.63 DNM2 KIF1A KIF1B KIF5A OPA1 TRPV4
5 ATPase activity GO:0016887 9.61 KIF1A KIF1B KIF5A
6 microtubule motor activity GO:0003777 9.56 DYNC1H1 KIF1A KIF1B KIF5A
7 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.54 KIF1A KIF1B KIF5A
8 GTP binding GO:0005525 9.5 DNM2 MFN2 OPA1 RAB7A RAB7B TUBB
9 GTPase activity GO:0003924 9.17 DNM2 MFN2 OPA1 RAB7A RAB7B TUBB

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

3 CDC
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29 GO
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31 HGMD
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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