CMT2K
MCID: CHR350
MIFTS: 46

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

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle 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 57 20 13 70
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness 12 20 58
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k 12 20 58
Charcot-Marie-Tooth Disease Axonal Type 2k 12 72 15
Charcot-Marie-Tooth Disease Type 2k 20 29 6
Autosomal Recessive Axonal Cmt4c4 12 20 58
Arcmt2k 12 20 58
Cmt2k 57 58 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k 57 20
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 20
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k 12
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k 57
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 20
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k 58
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k 57
Charcot-Marie-Tooth Neuropathy Axonal Type 2k 12
Charcot-Marie-Tooth Disease Neuronal Type 2k 72
Charcot-Marie-Tooth Neuropathy Type 2k 72
Charcot-Marie-Tooth Disease, Type 2k 39
Charcot Marie Tooth Disease Type 2k 20
Charcot-Marie-Tooth Disease 2k 72
Cmt 2k 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
charcot-marie-tooth disease, axonal, type 2k:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110167
OMIM® 57 607831
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1842983 C1842984
UMLS 70 C1842983

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101097 Definition A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Epidemiology ARCMT2K 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 description Onset 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. Etiology ARCMT2K 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). Prognosis The prognosis for ARCMT2K may be severe, with two of the reported patients dying during in the fifth decade of life.

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 4a and axonal neuropathy. 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 Golgi-to-ER retrograde transport and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skeletal muscle and skin, and related phenotypes are gait disturbance and decreased nerve conduction velocity

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 : 72 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.

More information from OMIM: 607831 PS118220

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 47)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4a 30.0 HSPB8 GDAP1
2 axonal neuropathy 29.9 KIF5A KIF1A GDAP1
3 peripheral nervous system disease 29.8 HSPB8 GDAP1 FIS1
4 tooth disease 29.5 JPH1 HSPB8 GDAP1 DYNC1H1
5 neuropathy 29.2 KIF5A KIF1A HSPB8 GDAP1 DYNC1H1
6 charcot-marie-tooth disease 28.1 KIF5A KIF1A JPH1 HSPB8 GDAP1 FIS1
7 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.9
8 alacrima, achalasia, and mental retardation syndrome 10.3
9 charcot-marie-tooth disease, axonal, type 2h 10.3 GDAP1 DNAJB2
10 charcot-marie-tooth disease, axonal, type 2r 10.2 GDAP1 DNAJB2
11 charcot-marie-tooth disease intermediate type 10.2 GDAP1 DNAJB2
12 spastic paraplegia 55, autosomal recessive 10.2 GDAP1 DNAJB2
13 charcot-marie-tooth disease, axonal, type 2t 10.2 GDAP1 DNAJB2
14 spinal muscular atrophy with lower extremity predominance 10.2 GDAP1 DYNC1H1
15 charcot-marie-tooth disease, axonal, type 2p 10.2 GDAP1 DNAJB2
16 charcot-marie-tooth disease, dominant intermediate e 10.2 GDAP1 DYNC1H1
17 charcot-marie-tooth disease, axonal, type 2b 10.2 HSPB8 GDAP1
18 charcot-marie-tooth disease, axonal, type 2a1 10.1 HSPB8 GDAP1
19 charcot-marie-tooth disease, demyelinating, type 1f 10.1 GDAP1 DYNC1H1
20 charcot-marie-tooth disease, axonal, type 2i 10.1 HSPB8 GDAP1
21 charcot-marie-tooth disease, axonal, type 2l 10.1 HSPB8 GDAP1
22 hereditary motor and sensory neuropathy, type iic 10.1 HSPB8 GDAP1
23 charcot-marie-tooth disease, axonal, type 2f 10.1 HSPB8 GDAP1
24 gdap1-related hereditary motor and sensory neuropathy 10.1
25 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 HSPB8 DNAJB2
26 charcot-marie-tooth disease, axonal, type 2d 10.0 HSPB8 GDAP1
27 charcot-marie-tooth disease, demyelinating, type 1c 10.0 HSPB8 GDAP1
28 charcot-marie-tooth disease, axonal, type 2b2 10.0 HSPB8 GDAP1 DNAJB2
29 neuronopathy, distal hereditary motor, type va 10.0 HSPB8 GDAP1 DNAJB2
30 neuronopathy, distal hereditary motor, type viib 10.0 KIF5A DYNC1H1
31 mitochondrial complex i deficiency, nuclear type 1 9.9
32 hypertrophic neuropathy of dejerine-sottas 9.9 HSPB8 GDAP1
33 spinal muscular atrophy 9.9 HSPB8 DYNC1H1 DNAJB2
34 muscular atrophy 9.9 HSPB8 DYNC1H1 DNAJB2
35 hereditary spastic paraplegia 30 9.8 KIF5A KIF1A
36 spastic paraplegia 17, autosomal dominant 9.8 KIF5A HSPB8
37 spastic paraplegia 57, autosomal recessive 9.8 KIF5A KIF1A
38 spastic paraplegia 10, autosomal dominant 9.7 KIF5A KIF1A
39 3-methylglutaconic aciduria, type iii 9.7 KIF5A GDAP1 FIS1
40 neuropathy, hereditary sensory and autonomic, type iia 9.7 KIF1A HSPB8 GDAP1
41 spastic paraplegia 4, autosomal dominant 9.7 KIF5A KIF1A
42 masa syndrome 9.7 KIF5A KIF1A
43 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.6 KIF5A HSPB8 GDAP1 DYNC1H1
44 neuromuscular disease 9.4 KIF5A HSPB8 GDAP1 FIS1 DYNC1H1
45 charcot-marie-tooth disease, recessive intermediate a 9.3 SLC25A12 RAB6B JPH1 HSPB8 GDAP1 ATCAY
46 charcot-marie-tooth disease, axonal, type 2e 9.2 KIF5A KIF1A HSPB8 GDAP1 DNAJB2
47 motor peripheral neuropathy 9.1 KIF5A KIF1A HSPB8 DYNC1H1 DNAJB2

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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
2 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
3 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
4 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
5 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
6 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
7 hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009130
8 peripheral demyelination 58 31 frequent (33%) Frequent (79-30%) HP:0011096
9 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
10 skeletal muscle atrophy 58 Frequent (79-30%)
11 talipes equinovarus 31 HP:0001762
12 kyphoscoliosis 31 HP:0002751
13 areflexia 31 HP:0001284
14 split hand 31 HP:0001171
15 decreased motor nerve conduction velocity 31 HP:0003431
16 distal amyotrophy 31 HP:0003693
17 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
18 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ATCAY DNAJB2 DYNC1H1 FIS1 GDAP1 HSPB8
2 muscle MP:0005369 9.02 ATCAY DYNC1H1 FIS1 HSPB8 JPH1

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2k 29 GDAP1 JPH1

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

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

40
Skeletal Muscle, Skin

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

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

(show all 29)
# Title Authors PMID Year
1
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. 61 6 57
20685671 2010
2
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. 57 6
21753178 2011
3
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. 6 57
20232219 2010
4
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. 57 6
18492089 2008
5
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. 6 57
18231710 2008
6
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 6 57
15805163 2005
7
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 57 6
12707075 2003
8
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. 61 57
25168384 2015
9
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 6 61
19089472 2009
10
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. 6
17039978 2006
11
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 6
12499475 2002
12
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 6
11743579 2002
13
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. 6
11743580 2002
14
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies. 61
32506583 2020
15
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K. 61
31655048 2020
16
Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations. 61
29372391 2018
17
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K. 61
28495047 2017
18
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease. 61
28236508 2017
19
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
20
Charcot-Marie-Tooth disease: New insights from skin biopsy. 61
26362287 2015
21
Mitochondrial dynamics and inherited peripheral nerve diseases. 61
25847151 2015
22
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 61
25860513 2015
23
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation. 61
25337607 2014
24
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells. 61
21890626 2011
25
Inherited mitochondrial neuropathies. 61
21402391 2011
26
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. 61
20849849 2011
27
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. 61
21199105 2010
28
Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation). 61
19381883 2009
29
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 61
17347251 2007

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

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

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDAP1 NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) SNV Pathogenic 4199 rs104894079 GRCh37: 8:75272530-75272530
GRCh38: 8:74360295-74360295
2 GDAP1 NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) SNV Pathogenic 4201 rs121908113 GRCh37: 8:75275246-75275246
GRCh38: 8:74363011-74363011
3 GDAP1 NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) SNV Pathogenic 4202 rs121908114 GRCh37: 8:75275286-75275286
GRCh38: 8:74363051-74363051
4 GDAP1 NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) SNV Pathogenic 4203 rs121908115 GRCh37: 8:75276244-75276244
GRCh38: 8:74364009-74364009
5 GDAP1 NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) SNV Pathogenic 4204 rs267606842 GRCh37: 8:75275272-75275272
GRCh38: 8:74363037-74363037
6 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 GRCh37: 8:75274121-75274121
GRCh38: 8:74361886-74361886
7 GDAP1 NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) SNV Pathogenic 50557 rs397515441 GRCh37: 8:75272528-75272528
GRCh38: 8:74360293-74360293
8 GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg) SNV Pathogenic 50558 rs397515442 GRCh37: 8:75272429-75272429
GRCh38: 8:74360194-74360194
9 GDAP1 NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) SNV Pathogenic 50559 rs397515443 GRCh37: 8:75276346-75276346
GRCh38: 8:74364111-74364111
10 GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Pathogenic 242508 rs281865060 GRCh37: 8:75272408-75272408
GRCh38: 8:74360173-74360173
11 GDAP1 NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) SNV Pathogenic 217229 rs745663149 GRCh37: 8:75272434-75272434
GRCh38: 8:74360199-74360199
12 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 GRCh37: 8:75274121-75274121
GRCh38: 8:74361886-74361886
13 GDAP1 NM_018972.4(GDAP1):c.140del (p.Lys47fs) Deletion Pathogenic 974687 GRCh37: 8:75263528-75263528
GRCh38: 8:74351293-74351293
14 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
15 GDAP1 NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) SNV Pathogenic 4191 rs104894075 GRCh37: 8:75275175-75275175
GRCh38: 8:74362940-74362940
16 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 GRCh37: 8:75272419-75272419
GRCh38: 8:74360184-74360184
17 GDAP1 NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) SNV Pathogenic 4191 rs104894075 GRCh37: 8:75275175-75275175
GRCh38: 8:74362940-74362940
18 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 GRCh37: 8:75272419-75272419
GRCh38: 8:74360184-74360184
19 GDAP1 NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) SNV Likely pathogenic 800968 rs1586807529 GRCh37: 8:75276442-75276442
GRCh38: 8:74364207-74364207
20 overlap with 7 genes Deletion Uncertain significance 560150 GRCh37: 8:74789216-75279753
GRCh38: 8:73876981-74367518
21 GDAP1 NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) SNV Uncertain significance 982611 GRCh37: 8:75263573-75263573
GRCh38: 8:74351338-74351338
22 GDAP1 NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) SNV Uncertain significance 216707 rs148508128 GRCh37: 8:75274190-75274190
GRCh38: 8:74361955-74361955
23 GDAP1 NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) SNV Uncertain significance 909881 GRCh37: 8:75276244-75276244
GRCh38: 8:74364009-74364009
24 GDAP1 NM_018972.4(GDAP1):c.310+6del Deletion Uncertain significance 245606 rs780828430 GRCh37: 8:75263707-75263707
GRCh38: 8:74351472-74351472
25 GDAP1 NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) SNV Uncertain significance 845803 GRCh37: 8:75276564-75276564
GRCh38: 8:74364329-74364329
26 GDAP1 NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) SNV Uncertain significance 467754 rs140811185 GRCh37: 8:75276531-75276531
GRCh38: 8:74364296-74364296
27 GDAP1 NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) SNV Uncertain significance 848093 GRCh37: 8:75276397-75276397
GRCh38: 8:74364162-74364162
28 GDAP1 NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) Deletion Uncertain significance 816531 rs765346218 GRCh37: 8:75276327-75276328
GRCh38: 8:74364092-74364093
29 GDAP1 NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) SNV Uncertain significance 816532 rs1586806110 GRCh37: 8:75275196-75275196
GRCh38: 8:74362961-74362961
30 GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=) SNV Uncertain significance 379724 rs181157785 GRCh37: 8:75275287-75275287
GRCh38: 8:74363052-74363052
31 GDAP1 NM_018972.4(GDAP1):c.*858G>T SNV Uncertain significance 363729 rs761964880 GRCh37: 8:75277460-75277460
GRCh38: 8:74365225-74365225
32 GDAP1 NM_018972.4(GDAP1):c.*1779G>T SNV Uncertain significance 363751 rs886063115 GRCh37: 8:75278381-75278381
GRCh38: 8:74366146-74366146
33 GDAP1 NM_018972.4(GDAP1):c.485-6T>C SNV Uncertain significance 363720 rs763802909 GRCh37: 8:75274113-75274113
GRCh38: 8:74361878-74361878
34 GDAP1 NM_018972.4(GDAP1):c.*873T>C SNV Uncertain significance 363731 rs573385308 GRCh37: 8:75277475-75277475
GRCh38: 8:74365240-74365240
35 GDAP1 NM_018972.4(GDAP1):c.*444A>G SNV Uncertain significance 363722 rs113377784 GRCh37: 8:75277046-75277046
GRCh38: 8:74364811-74364811
36 GDAP1 NM_018972.4(GDAP1):c.*1437A>C SNV Uncertain significance 363744 rs557040712 GRCh37: 8:75278039-75278039
GRCh38: 8:74365804-74365804
37 GDAP1 NM_018972.4(GDAP1):c.*898A>G SNV Uncertain significance 363732 rs886063109 GRCh37: 8:75277500-75277500
GRCh38: 8:74365265-74365265
38 GDAP1 NM_018972.4(GDAP1):c.*1570G>C SNV Uncertain significance 363747 rs886063114 GRCh37: 8:75278172-75278172
GRCh38: 8:74365937-74365937
39 GDAP1 NM_001362931.2(GDAP1):c.694+4037T>C SNV Uncertain significance 363763 rs886063119 GRCh37: 8:75279325-75279325
GRCh38: 8:74367090-74367090
40 GDAP1 NM_018972.4(GDAP1):c.*864G>C SNV Uncertain significance 363730 rs886063108 GRCh37: 8:75277466-75277466
GRCh38: 8:74365231-74365231
41 GDAP1 NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) SNV Uncertain significance 363719 rs771810975 GRCh37: 8:75272435-75272435
GRCh38: 8:74360200-74360200
42 GDAP1 NM_018972.4(GDAP1):c.*1416G>A SNV Uncertain significance 363741 rs575631045 GRCh37: 8:75278018-75278018
GRCh38: 8:74365783-74365783
43 GDAP1 NM_018972.4(GDAP1):c.*1377C>T SNV Uncertain significance 363740 rs886063112 GRCh37: 8:75277979-75277979
GRCh38: 8:74365744-74365744
44 GDAP1 NM_018972.4(GDAP1):c.*1923C>T SNV Uncertain significance 363754 rs886063116 GRCh37: 8:75278525-75278525
GRCh38: 8:74366290-74366290
45 GDAP1 NM_018972.4(GDAP1):c.*2170A>G SNV Uncertain significance 363756 rs886063117 GRCh37: 8:75278772-75278772
GRCh38: 8:74366537-74366537
46 GDAP1 NM_018972.4(GDAP1):c.*618C>T SNV Uncertain significance 363724 rs886063106 GRCh37: 8:75277220-75277220
GRCh38: 8:74364985-74364985
47 GDAP1 NM_018972.4(GDAP1):c.*1124G>T SNV Uncertain significance 363737 rs886063111 GRCh37: 8:75277726-75277726
GRCh38: 8:74365491-74365491
48 GDAP1 NM_018972.4(GDAP1):c.*2298A>G SNV Uncertain significance 363759 rs4551344 GRCh37: 8:75278900-75278900
GRCh38: 8:74366665-74366665
49 GDAP1 NM_018972.4(GDAP1):c.*2210C>T SNV Uncertain significance 363757 rs571939530 GRCh37: 8:75278812-75278812
GRCh38: 8:74366577-74366577
50 GDAP1 NM_018972.4(GDAP1):c.*931A>G SNV Uncertain significance 363733 rs532787830 GRCh37: 8:75277533-75277533
GRCh38: 8:74365298-74365298

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

72
# 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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 RAB6B KIF5A KIF1A DYNC1H1
2 10.4 RAB6B DYNC1H1

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 membrane GO:0016020 9.96 SLC25A12 RAB6B KIF5A KIF1A JPH1 GDAP1
2 presynapse GO:0098793 9.33 RAB6B KIF1A ATCAY
3 kinesin complex GO:0005871 9.32 KIF5A KIF1A
4 integral component of mitochondrial outer membrane GO:0031307 8.96 GDAP1 FIS1
5 axon cytoplasm GO:1904115 8.8 KIF5A KIF1A DYNC1H1

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

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.58 RAB6B KIF5A KIF1A
2 protein targeting to mitochondrion GO:0006626 9.37 GDAP1 FIS1
3 cytoskeleton-dependent intracellular transport GO:0030705 9.32 KIF5A KIF1A
4 mitochondrial fission GO:0000266 9.26 GDAP1 FIS1
5 mitochondrial fusion GO:0008053 9.16 GDAP1 FIS1
6 microtubule-based movement GO:0007018 9.13 KIF5A KIF1A DYNC1H1
7 retrograde neuronal dense core vesicle transport GO:1990049 8.62 KIF5A KIF1A

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 kinesin binding GO:0019894 9.26 KIF5A ATCAY
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.16 KIF5A KIF1A
3 motor activity GO:0003774 9.13 KIF5A KIF1A DYNC1H1
4 microtubule motor activity GO:0003777 8.8 KIF5A KIF1A DYNC1H1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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