MCID: CHR549
MIFTS: 22

Charcot-Marie-Tooth Disease Type 2l

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

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

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

Name: Charcot-Marie-Tooth Disease Type 2l 20
Charcot-Marie-Tooth Disease, Type 2l 29 6 39
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l 20
Charcot-Marie-Tooth Disease, Axonal, Type 2l 70
Charcot-Marie-Tooth Disease, Type 2i 70
Cmt2l 20

Classifications:



External Ids:

UMLS 70 C1837552 C3888087

Summaries for Charcot-Marie-Tooth Disease Type 2l

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2l, also known as charcot-marie-tooth disease, type 2l, is related to charcot-marie-tooth disease, axonal, type 2l and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2l is HSPB8 (Heat Shock Protein Family B (Small) Member 8). Affiliated tissues include eye.

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2l 11.8
2 charcot-marie-tooth disease 10.7
3 tooth disease 10.7
4 neuronopathy, distal hereditary motor, type iia 10.3
5 sensory peripheral neuropathy 10.3
6 peripheral nervous system disease 10.3
7 neuropathy 10.3
8 charcot-marie-tooth disease, demyelinating, type 1b 9.9
9 charcot-marie-tooth disease, demyelinating, type 1a 9.9
10 charcot-marie-tooth disease, axonal, type 2f 9.9
11 charcot-marie-tooth disease, axonal, type 2i 9.9
12 charcot-marie-tooth disease, axonal, type 2j 9.9

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



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

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

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2l 29 HSPB8

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2l:

40
Eye

Publications for Charcot-Marie-Tooth Disease Type 2l

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

(show all 14)
# Title Authors PMID Year
1
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. 61 6
15565283 2005
2
Genetic heterogeneity of motor neuropathies. 6
28251916 2017
3
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 6
26718575 2016
4
HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. 6
21985219 2011
5
Mutant HSPB8 causes motor neuron-specific neurite degeneration. 6
20538880 2010
6
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 6
15122253 2004
7
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 6
15021985 2004
8
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 61
29029362 2018
9
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L. 61
25206829 2014
10
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. 61
23796487 2013
11
[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L]. 61
21983727 2011
12
[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L]. 61
17160934 2006
13
Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants. 61
16935933 2006
14
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L]. 61
16604494 2006

Variations for Charcot-Marie-Tooth Disease Type 2l

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

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPB8 NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) SNV Pathogenic 560412 rs1565929090 GRCh37: 12:119624884-119624884
GRCh38: 12:119187079-119187079
2 HSPB8 NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) SNV Pathogenic 2619 rs104894345 GRCh37: 12:119624885-119624885
GRCh38: 12:119187080-119187080
3 HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) SNV Pathogenic 2618 rs104894351 GRCh37: 12:119624883-119624883
GRCh38: 12:119187078-119187078
4 HSPB8 NM_014365.2(HSPB8):c.432-10T>A SNV Conflicting interpretations of pathogenicity 464510 rs368810689 GRCh37: 12:119631494-119631494
GRCh38: 12:119193689-119193689
5 HSPB8 NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) SNV Conflicting interpretations of pathogenicity 307417 rs35909818 GRCh37: 12:119617383-119617383
GRCh38: 12:119179578-119179578
6 HSPB8 NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser) SNV Uncertain significance 834392 GRCh37: 12:119617127-119617127
GRCh38: 12:119179322-119179322
7 HSPB8 NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys) SNV Uncertain significance 863634 GRCh37: 12:119617397-119617397
GRCh38: 12:119179592-119179592
8 HSPB8 NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys) SNV Uncertain significance 934552 GRCh37: 12:119617160-119617160
GRCh38: 12:119179355-119179355
9 HSPB8 NM_014365.3(HSPB8):c.266dup (p.Pro90fs) Duplication Uncertain significance 804924 rs773017653 GRCh37: 12:119617376-119617377
GRCh38: 12:119179571-119179572
10 HSPB8 NM_014365.3(HSPB8):c.241G>A (p.Val81Met) SNV Uncertain significance 935165 GRCh37: 12:119617358-119617358
GRCh38: 12:119179553-119179553
11 HSPB8 NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn) SNV Uncertain significance 953419 GRCh37: 12:119617428-119617428
GRCh38: 12:119179623-119179623
12 HSPB8 NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe) SNV Uncertain significance 953635 GRCh37: 12:119631628-119631628
GRCh38: 12:119193823-119193823
13 HSPB8 NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg) SNV Uncertain significance 1054940 GRCh37: 12:119617251-119617251
GRCh38: 12:119179446-119179446
14 HSPB8 NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr) SNV Uncertain significance 1055000 GRCh37: 12:119617482-119617482
GRCh38: 12:119179677-119179677
15 HSPB8 NM_014365.3(HSPB8):c.563dup (p.Asp189fs) Duplication Uncertain significance 1055783 GRCh37: 12:119631634-119631635
GRCh38: 12:119193829-119193830
16 HSPB8 NC_000012.12:g.119178791C>G SNV Uncertain significance 881961 GRCh37: 12:119616596-119616596
GRCh38: 12:119178791-119178791
17 HSPB8 NC_000012.12:g.119178894A>T SNV Uncertain significance 883131 GRCh37: 12:119616699-119616699
GRCh38: 12:119178894-119178894
18 HSPB8 NM_014365.3(HSPB8):c.367+57del Deletion Uncertain significance 931761 GRCh37: 12:119617539-119617539
GRCh38: 12:119179734-119179734
19 HSPB8 NM_014365.2(HSPB8):c.*648A>G SNV Uncertain significance 307427 rs770364674 GRCh37: 12:119632311-119632311
GRCh38: 12:119194506-119194506
20 HSPB8 NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) SNV Uncertain significance 464511 rs952834680 GRCh37: 12:119617126-119617126
GRCh38: 12:119179321-119179321
21 HSPB8 NM_014365.3(HSPB8):c.461T>C (p.Val154Ala) SNV Uncertain significance 1006960 GRCh37: 12:119631533-119631533
GRCh38: 12:119193728-119193728
22 HSPB8 NC_000012.11:g.(?_119631494)_(119631673_?)dup Duplication Uncertain significance 1007967 GRCh37: 12:119631494-119631673
GRCh38:
23 HSPB8 NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) SNV Uncertain significance 240907 rs878854979 GRCh37: 12:119631584-119631584
GRCh38: 12:119193779-119193779
24 HSPB8 NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) SNV Uncertain significance 572514 rs1265247622 GRCh37: 12:119617311-119617311
GRCh38: 12:119179506-119179506
25 HSPB8 NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser) SNV Uncertain significance 585123 rs924785682 GRCh37: 12:119617325-119617325
GRCh38: 12:119179520-119179520
26 HSPB8 NM_014365.3(HSPB8):c.174C>A (p.Ser58=) SNV Uncertain significance 838349 GRCh37: 12:119617291-119617291
GRCh38: 12:119179486-119179486
27 HSPB8 NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala) SNV Uncertain significance 853569 GRCh37: 12:119631598-119631598
GRCh38: 12:119193793-119193793
28 HSPB8 NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu) SNV Uncertain significance 855097 GRCh37: 12:119617231-119617231
GRCh38: 12:119179426-119179426
29 HSPB8 NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys) SNV Uncertain significance 943916 GRCh37: 12:119617202-119617202
GRCh38: 12:119179397-119179397
30 HSPB8 NM_014365.3(HSPB8):c.515del (p.Pro172fs) Deletion Uncertain significance 946382 GRCh37: 12:119631585-119631585
GRCh38: 12:119193780-119193780
31 HSPB8 NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) SNV Uncertain significance 811267 rs1183371665 GRCh37: 12:119617257-119617257
GRCh38: 12:119179452-119179452
32 HSPB8 NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp) SNV Uncertain significance 957888 GRCh37: 12:119617254-119617254
GRCh38: 12:119179449-119179449
33 HSPB8 NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr) SNV Uncertain significance 972318 GRCh37: 12:119617346-119617346
GRCh38: 12:119179541-119179541
34 HSPB8 NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile) SNV Uncertain significance 1014121 GRCh37: 12:119617305-119617305
GRCh38: 12:119179500-119179500
35 HSPB8 NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys) SNV Uncertain significance 1019441 GRCh37: 12:119617166-119617166
GRCh38: 12:119179361-119179361
36 HSPB8 NM_014365.3(HSPB8):c.149A>T (p.Asp50Val) SNV Uncertain significance 1020904 GRCh37: 12:119617266-119617266
GRCh38: 12:119179461-119179461
37 HSPB8 NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln) SNV Uncertain significance 570968 rs104894351 GRCh37: 12:119624883-119624883
GRCh38: 12:119187078-119187078
38 HSPB8 NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn) SNV Uncertain significance 847769 GRCh37: 12:119617244-119617244
GRCh38: 12:119179439-119179439
39 HSPB8 NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser) SNV Uncertain significance 858430 GRCh37: 12:119617202-119617202
GRCh38: 12:119179397-119179397
40 HSPB8 NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg) SNV Uncertain significance 950146 GRCh37: 12:119617164-119617164
GRCh38: 12:119179359-119179359
41 HSPB8 NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer) Deletion Uncertain significance 968158 GRCh37: 12:119617450-119617450
GRCh38: 12:119179645-119179645
42 HSPB8 NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) SNV Uncertain significance 216679 rs863224767 GRCh37: 12:119631608-119631608
GRCh38: 12:119193803-119193803
43 HSPB8 NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) SNV Uncertain significance 880624 GRCh37: 12:119617280-119617280
GRCh38: 12:119179475-119179475
44 HSPB8 NM_014365.3(HSPB8):c.*788C>T SNV Uncertain significance 882104 GRCh37: 12:119632451-119632451
GRCh38: 12:119194646-119194646
45 HSPB8 NM_014365.3(HSPB8):c.*860T>C SNV Uncertain significance 883245 GRCh37: 12:119632523-119632523
GRCh38: 12:119194718-119194718
46 HSPB8 NM_014365.3(HSPB8):c.*123G>A SNV Uncertain significance 883984 GRCh37: 12:119631786-119631786
GRCh38: 12:119193981-119193981
47 HSPB8 NM_014365.3(HSPB8):c.*330A>T SNV Uncertain significance 883985 GRCh37: 12:119631993-119631993
GRCh38: 12:119194188-119194188
48 HSPB8 NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu) SNV Uncertain significance 639762 rs35909818 GRCh37: 12:119617383-119617383
GRCh38: 12:119179578-119179578
49 HSPB8 NM_014365.2(HSPB8):c.200G>T (p.Gly67Val) SNV Uncertain significance 642253 rs771852827 GRCh37: 12:119617317-119617317
GRCh38: 12:119179512-119179512
50 HSPB8 NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys) SNV Uncertain significance 653790 rs757293016 GRCh37: 12:119617367-119617367
GRCh38: 12:119179562-119179562

Expression for Charcot-Marie-Tooth Disease Type 2l

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

Pathways for Charcot-Marie-Tooth Disease Type 2l

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

Sources for Charcot-Marie-Tooth Disease Type 2l

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
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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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