CMT2T
MCID: CHR542
MIFTS: 34

Charcot-Marie-Tooth Disease, Axonal, Type 2t (CMT2T)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2t 57 29 6 40 17 72
Cmt2t 57 12 59 74
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t 57 74
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t 12 59
Charcot-Marie-Tooth Disease Axonal Type 2t 12 15
Charcot-Marie-Tooth Neuropathy, Type 2t 57 74
Spinocerebellar Ataxia Type 43 59 17
Ar-Cmt2t 12 59
Mme-Related Autosomal Dominant Hereditary Motor and Sensory Neuropathy Type 2 59
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2t 74
Charcot-Marie-Tooth Neuropathy Type 2t 12
Charcot-Marie-Tooth Disease Type 2t 59
Mme-Related Autosomal Dominant Cmt2 59
Charcot-Marie-Tooth Disease 2t 74
Sca43 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (range 36 to 56 years)
some patients have heterozygous mutations and may show slightly later onset


HPO:

32
charcot-marie-tooth disease, axonal, type 2t:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110160
MeSH 44 D002607
ICD10 33 G60.0
UMLS 72 C4015635

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

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 2T: 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 2t, also known as cmt2t, is related to charcot-marie-tooth disease and spinocerebellar ataxia 43. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2t is MME (Membrane Metalloendopeptidase). Affiliated tissues include skin, and related phenotypes are distal lower limb muscle weakness and peripheral axonal neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.

OMIM : 57 Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (617017)

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

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 2t via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.6 TRIM2 MME LRSAM1 DNAJB2 COX6A1
2 spinocerebellar ataxia 43 12.2
3 tooth disease 10.2
4 ataxia and polyneuropathy, adult-onset 10.2
5 aceruloplasminemia 10.2
6 polyneuropathy 10.2
7 autosomal dominant cerebellar ataxia 10.2
8 neuropathy 10.2
9 spastic paraplegia 46, autosomal recessive 9.4 SPG21 COX6A1
10 charcot-marie-tooth disease type 2a2 9.3 TRIM2 DNAJB2 COX6A1
11 charcot-marie-tooth disease intermediate type 9.0 TRIM2 SPG21 DNAJB2 COX6A1
12 charcot-marie-tooth disease, axonal, type 2b2 8.9 TRIM2 SPG21 DNAJB2 COX6A1
13 charcot-marie-tooth disease, axonal, type 2b1 8.8 TRIM2 SPG21 DNAJB2 COX6A1
14 charcot-marie-tooth disease, recessive intermediate d 8.3 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
15 charcot-marie-tooth disease, axonal, type 2h 8.3 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
16 charcot-marie-tooth disease, axonal, type 2r 8.3 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
17 spastic paraplegia 55, autosomal recessive 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
18 amyotrophic lateral sclerosis type 5 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
19 charcot-marie-tooth disease, axonal, type 2p 7.8 TRIM2 SPG21 LRSAM1 DNAJB2 COX6A1 C12orf65
20 charcot-marie-tooth disease, axonal, type 2e 7.5 TRIM2 SPG21 MME LRSAM1 DNAJB2 COX6A1

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



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

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

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

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009053
2 peripheral axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003477
3 distal upper limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0008959
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
6 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
7 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
8 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
9 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
10 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
11 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
12 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
13 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
14 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
15 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
16 hypometric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000571
17 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
18 cogwheel rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002396
19 decreased number of large peripheral myelinated nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003387
20 progressive cerebellar ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002073
21 cerebellar vermis atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006855
22 dementia 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
foot drop
gait instability
more
Muscle Soft Tissue:
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy

Neurologic Central Nervous System:
no dementia

Clinical features from OMIM:

617017

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2t 29 MME

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

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

41
Skin

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

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

# Title Authors PMID Year
1
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. 38 8 71
26991897 2016
2
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. 8 71
27588448 2016
3
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
4
Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy. 38
28855494 2017
5
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T. 38
27458975 2016
6
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 38
26556829 2016

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

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

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MME NM_000902.4(MME): c.467del (p.Pro156fs) deletion Pathogenic rs749320057 3:154834480-154834480 3:155116691-155116691
2 DNAJB2 NM_001039550.2(DNAJB2): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs797045039 2:220146774-220146774 2:219282052-219282052
3 MME NC_000003.12: g.155116987G> A single nucleotide variant Pathogenic rs1057519023 3:154834776-154834776 3:155116987-155116987
4 MME NM_000902.4(MME): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic rs879253751 3:154836541-154836541 3:155118752-155118752
5 MME NM_000902.4(MME): c.1861T> C (p.Cys621Arg) single nucleotide variant Pathogenic rs879253752 3:154886361-154886361 3:155168572-155168572
6 MME NC_000003.12: g.155116561T> A single nucleotide variant Pathogenic rs1057519024 3:154834350-154834350 3:155116561-155116561
7 MME NM_000902.4(MME): c.655-2A> G single nucleotide variant Pathogenic rs765591205 3:154836533-154836533 3:155118744-155118744
8 MME NM_000902.4(MME): c.71G> A (p.Trp24Ter) single nucleotide variant risk factor rs886039755 3:154802027-154802027 3:155084238-155084238
9 MME NM_000902.4(MME): c.1265C> A (p.Ala422Asp) single nucleotide variant risk factor rs777476150 3:154861308-154861308 3:155143519-155143519
10 MME NM_000902.4(MME): c.1666C> T (p.Pro556Ser) single nucleotide variant Likely pathogenic 3:154884696-154884696 3:155166907-155166907
11 MME NM_000902.4(MME): c.1972G> A (p.Ala658Thr) single nucleotide variant Likely pathogenic 3:154886578-154886578 3:155168789-155168789
12 MME NM_000902.4(MME): c.1272del (p.Arg425fs) deletion Uncertain significance rs1060499935 3:154861312-154861312 3:155143523-155143523
13 MME NM_000902.4(MME): c.1904G> A (p.Gly635Asp) single nucleotide variant Uncertain significance rs151302020 3:154886404-154886404 3:155168615-155168615

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

74
# Symbol AA change Variation ID SNP ID
1 MME p.Tyr347Cys VAR_077686 rs138218277
2 MME p.Ala422Asp VAR_077689 rs777476150
3 MME p.Cys621Arg VAR_077691 rs879253752

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 8.62 TRIM2 LRSAM1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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