CMT2L
MCID: CHR353
MIFTS: 38

Charcot-Marie-Tooth Disease, Axonal, Type 2l (CMT2L)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2l 58 13 74
Cmt2l 58 12 60 76
Charcot-Marie-Tooth Disease Axonal Type 2l 12 76 15
Charcot-Marie-Tooth Disease, Type 2l 30 6 41
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l 12 60
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l 76
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2l 12
Charcot-Marie-Tooth Disease Neuronal Type 2l 76
Charcot-Marie-Tooth Neuropathy Type 2l 76
Charcot-Marie-Tooth Disease, Type 2i 74
Charcot-Marie-Tooth Disease 2l 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2l
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
genetic heterogeneity (see cmt2a )
age at onset 15 to 33 years


HPO:

33
charcot-marie-tooth disease, axonal, type 2l:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110174
OMIM 58 608673
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C3888087
Orphanet 60 ORPHA99945
MedGen 43 C1837552

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

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2L: 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2l, also known as cmt2l, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2l is HSPB8 (Heat Shock Protein Family B (Small) Member 8), and among its related pathways/superpathways is Cytoskeletal Signaling. Related phenotypes are scoliosis and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the HSPB8 gene.

Description from OMIM: 608673

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

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
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.9 HSPB1 HSPB8 KIF1B MPZ NEFL
2 tooth disease 29.9 HSPB1 HSPB8 KIF1B MPZ NEFL
3 charcot-marie-tooth disease type 2l 11.7
4 charcot-marie-tooth disease, axonal, type 2i 10.3 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2j 10.3 KIF1B MPZ
6 charcot-marie-tooth disease, demyelinating, type 1f 10.3 MPZ NEFL
7 charcot-marie-tooth disease, axonal, type 2d 10.2 KIF1B MPZ
8 charcot-marie-tooth disease, demyelinating, type 1b 10.2 KIF1B MPZ
9 charcot-marie-tooth disease, axonal, type 2b 10.2 KIF1B MPZ
10 motor peripheral neuropathy 10.2 KIF1B MPZ
11 charcot-marie-tooth disease, demyelinating, type 1a 10.1 KIF1B MPZ
12 charcot-marie-tooth disease, demyelinating, type 1c 10.1 KIF1B MPZ NEFL
13 charcot-marie-tooth disease, axonal, type 2k 10.1 HSPB3 HSPB8 KIF1B
14 charcot-marie-tooth disease, demyelinating, type 1d 10.1 KIF1B MPZ
15 peripheral nervous system disease 10.1 KIF1B MPZ NEFL
16 charcot-marie-tooth disease, axonal, type 2e 10.1 KIF1B MPZ NEFL
17 neuropathy, hereditary, with liability to pressure palsies 10.0 KIF1B MPZ
18 distal hereditary motor neuropathy, type ii 10.0 CLIP1 HSPB1 HSPB3 HSPB8
19 hereditary motor and sensory neuropathy, type iic 9.9 KIF1B MPZ
20 charcot-marie-tooth disease, axonal, type 2f 9.9 HSPB1 HSPB3 KIF1B MPZ
21 amyotrophic lateral sclerosis 1 9.8 HSPB1 HSPB2 HSPB8 NEFL

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



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

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

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 pes cavus 33 HP:0001761
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 peripheral axonal neuropathy 33 HP:0003477
6 distal muscle weakness 33 HP:0002460
7 distal amyotrophy 33 HP:0003693
8 distal sensory impairment 33 HP:0002936
9 emg: chronic denervation signs 33 HP:0003444
10 decreased number of large peripheral myelinated nerve fibers 33 HP:0003387
11 decreased amplitude of sensory action potentials 33 HP:0007078

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

608673

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2l 30 HSPB8

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

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

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

# Title Authors Year
1
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L. ( 25206829 )
2014
2
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. ( 23796487 )
2013
3
[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L]. ( 21983727 )
2011
4
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L]. ( 16604494 )
2006
5
Small heat-shock protein 22 mutated in autosomal dominant Charcot- Marie-Tooth disease type 2L. ( 15565283 )
2005

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

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

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB8 NM_014365.2(HSPB8): c.319C> T (p.Pro107Ser) single nucleotide variant Uncertain significance rs146000958 GRCh38 Chromosome 12, 119179631: 119179631
2 HSPB8 NM_014365.2(HSPB8): c.319C> T (p.Pro107Ser) single nucleotide variant Uncertain significance rs146000958 GRCh37 Chromosome 12, 119617436: 119617436
3 HSPB8 NM_014365.2(HSPB8): c.536A> G (p.Glu179Gly) single nucleotide variant Uncertain significance rs863224767 GRCh38 Chromosome 12, 119193803: 119193803
4 HSPB8 NM_014365.2(HSPB8): c.536A> G (p.Glu179Gly) single nucleotide variant Uncertain significance rs863224767 GRCh37 Chromosome 12, 119631608: 119631608
5 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
6 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh38 Chromosome 12, 119187080: 119187080
7 HSPB8 NM_014365.2(HSPB8): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs771827550 GRCh37 Chromosome 12, 119617233: 119617233
8 HSPB8 NM_014365.2(HSPB8): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs771827550 GRCh38 Chromosome 12, 119179428: 119179428
9 HSPB8 NM_014365.2(HSPB8): c.512T> C (p.Val171Ala) single nucleotide variant Uncertain significance rs878854979 GRCh38 Chromosome 12, 119193779: 119193779
10 HSPB8 NM_014365.2(HSPB8): c.512T> C (p.Val171Ala) single nucleotide variant Uncertain significance rs878854979 GRCh37 Chromosome 12, 119631584: 119631584
11 HSPB8 NM_014365.2(HSPB8): c.402T> C (p.Ile134=) single nucleotide variant Benign/Likely benign rs56323028 GRCh37 Chromosome 12, 119624864: 119624864
12 HSPB8 NM_014365.2(HSPB8): c.402T> C (p.Ile134=) single nucleotide variant Benign/Likely benign rs56323028 GRCh38 Chromosome 12, 119187059: 119187059
13 HSPB8 NM_014365.2(HSPB8): c.582C> T (p.Thr194=) single nucleotide variant Benign/Likely benign rs4628742 GRCh37 Chromosome 12, 119631654: 119631654
14 HSPB8 NM_014365.2(HSPB8): c.582C> T (p.Thr194=) single nucleotide variant Benign/Likely benign rs4628742 GRCh38 Chromosome 12, 119193849: 119193849
15 HSPB8 NM_014365.2(HSPB8): c.266C> G (p.Pro89Arg) single nucleotide variant Uncertain significance rs35909818 GRCh38 Chromosome 12, 119179578: 119179578
16 HSPB8 NM_014365.2(HSPB8): c.266C> G (p.Pro89Arg) single nucleotide variant Uncertain significance rs35909818 GRCh37 Chromosome 12, 119617383: 119617383
17 HSPB8 NM_014365.2(HSPB8): c.552C> T (p.Asn184=) single nucleotide variant Benign/Likely benign rs112052602 GRCh38 Chromosome 12, 119193819: 119193819
18 HSPB8 NM_014365.2(HSPB8): c.552C> T (p.Asn184=) single nucleotide variant Benign/Likely benign rs112052602 GRCh37 Chromosome 12, 119631624: 119631624
19 HSPB8 NM_014365.2(HSPB8): c.535G> C (p.Glu179Gln) single nucleotide variant Benign/Likely benign rs74740454 GRCh38 Chromosome 12, 119193802: 119193802
20 HSPB8 NM_014365.2(HSPB8): c.535G> C (p.Glu179Gln) single nucleotide variant Benign/Likely benign rs74740454 GRCh37 Chromosome 12, 119631607: 119631607
21 HSPB8 NM_014365.2(HSPB8): c.233G> T (p.Arg78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs55826713 GRCh37 Chromosome 12, 119617350: 119617350
22 HSPB8 NM_014365.2(HSPB8): c.233G> T (p.Arg78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs55826713 GRCh38 Chromosome 12, 119179545: 119179545
23 HSPB8 NM_014365.2(HSPB8): c.499G> A (p.Glu167Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148514935 GRCh37 Chromosome 12, 119631571: 119631571
24 HSPB8 NM_014365.2(HSPB8): c.499G> A (p.Glu167Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148514935 GRCh38 Chromosome 12, 119193766: 119193766
25 HSPB8 NM_014365.2(HSPB8): c.210C> T (p.Pro70=) single nucleotide variant Likely benign rs1211866770 GRCh38 Chromosome 12, 119179522: 119179522
26 HSPB8 NM_014365.2(HSPB8): c.210C> T (p.Pro70=) single nucleotide variant Likely benign rs1211866770 GRCh37 Chromosome 12, 119617327: 119617327
27 HSPB8 NM_014365.2(HSPB8): c.266C> A (p.Pro89Gln) single nucleotide variant Uncertain significance rs35909818 GRCh37 Chromosome 12, 119617383: 119617383
28 HSPB8 NM_014365.2(HSPB8): c.266C> A (p.Pro89Gln) single nucleotide variant Uncertain significance rs35909818 GRCh38 Chromosome 12, 119179578: 119179578
29 HSPB8 NM_014365.2(HSPB8): c.9C> G (p.Asp3Glu) single nucleotide variant Uncertain significance rs952834680 GRCh38 Chromosome 12, 119179321: 119179321
30 HSPB8 NM_014365.2(HSPB8): c.9C> G (p.Asp3Glu) single nucleotide variant Uncertain significance rs952834680 GRCh37 Chromosome 12, 119617126: 119617126
31 HSPB8 NM_014365.2(HSPB8): c.432-10T> A single nucleotide variant Likely benign rs368810689 GRCh37 Chromosome 12, 119631494: 119631494
32 HSPB8 NM_014365.2(HSPB8): c.432-10T> A single nucleotide variant Likely benign rs368810689 GRCh38 Chromosome 12, 119193689: 119193689
33 HSPB8 NM_014365.2(HSPB8): c.553G> A (p.Glu185Lys) single nucleotide variant Likely benign rs774648716 GRCh38 Chromosome 12, 119193820: 119193820
34 HSPB8 NM_014365.2(HSPB8): c.553G> A (p.Glu185Lys) single nucleotide variant Likely benign rs774648716 GRCh37 Chromosome 12, 119631625: 119631625
35 HSPB8 NM_014365.2(HSPB8): c.580A> T (p.Thr194Ser) single nucleotide variant Uncertain significance rs771995241 GRCh38 Chromosome 12, 119193847: 119193847
36 HSPB8 NM_014365.2(HSPB8): c.580A> T (p.Thr194Ser) single nucleotide variant Uncertain significance rs771995241 GRCh37 Chromosome 12, 119631652: 119631652
37 HSPB8 NM_014365.2(HSPB8): c.503C> T (p.Ala168Val) single nucleotide variant Likely benign rs373049356 GRCh38 Chromosome 12, 119193770: 119193770
38 HSPB8 NM_014365.2(HSPB8): c.503C> T (p.Ala168Val) single nucleotide variant Likely benign rs373049356 GRCh37 Chromosome 12, 119631575: 119631575
39 HSPB8 NM_014365.2(HSPB8): c.422A> T (p.Lys141Met) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 119187079: 119187079
40 HSPB8 NM_014365.2(HSPB8): c.422A> T (p.Lys141Met) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 119624884: 119624884
41 HSPB8 NM_014365.2(HSPB8): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 119179377: 119179377
42 HSPB8 NM_014365.2(HSPB8): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 119617182: 119617182
43 HSPB8 NM_014365.2(HSPB8): c.201C> T (p.Gly67=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 119179513: 119179513
44 HSPB8 NM_014365.2(HSPB8): c.201C> T (p.Gly67=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 119617318: 119617318
45 HSPB8 NM_014365.2(HSPB8): c.523T> G (p.Ser175Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 119193790: 119193790
46 HSPB8 NM_014365.2(HSPB8): c.523T> G (p.Ser175Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 119631595: 119631595
47 HSPB8 NM_014365.2(HSPB8): c.14A> G (p.Gln5Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 119179326: 119179326
48 HSPB8 NM_014365.2(HSPB8): c.14A> G (p.Gln5Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 119617131: 119617131
49 HSPB8 NM_014365.2(HSPB8): c.194G> A (p.Arg65Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 119617311: 119617311
50 HSPB8 NM_014365.2(HSPB8): c.194G> A (p.Arg65Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 119179506: 119179506

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.41 CLIP1 KIF1B NEFL RAB35

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.93 CLIP1 HSPB1 HSPB2 HSPB3 HSPB8 KIF1B
2 cytoplasmic vesicle membrane GO:0030659 9.43 CLIP1 KIF1B TMED2
3 cytoplasmic vesicle GO:0031410 9.35 CLIP1 KIF1B RAB35 TMED2 VPS33A
4 axon cytoplasm GO:1904115 8.8 HSPB1 KIF1B NEFL

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to nerve growth factor stimulus GO:1990090 9.26 KIF1B RAB35
2 anterograde axonal transport GO:0008089 9.16 KIF1B NEFL
3 lysosome localization GO:0032418 8.96 KIF1B VPS33A
4 response to unfolded protein GO:0006986 8.8 HSPB1 HSPB2 HSPB3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.47 CLIP1 DENR HSPB1 HSPB2 HSPB8 KIF1B

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

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17 EFO
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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