CMT2T
MCID: CHR542
MIFTS: 36

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

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle 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 39 17 71
Cmt2t 57 12 58 73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t 57 73
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t 12 58
Charcot-Marie-Tooth Disease Axonal Type 2t 12 15
Charcot-Marie-Tooth Neuropathy, Type 2t 57 73
Spinocerebellar Ataxia Type 43 58 17
Ar-Cmt2t 12 58
Mme-Related Autosomal Dominant Hereditary Motor and Sensory Neuropathy Type 2 58
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2t 73
Charcot-Marie-Tooth Neuropathy Type 2t 12
Charcot-Marie-Tooth Disease Type 2t 58
Mme-Related Autosomal Dominant Cmt2 58
Charcot-Marie-Tooth Disease 2t 73
Sca43 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
charcot-marie-tooth disease, axonal, type 2t:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


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

UniProtKB/Swiss-Prot : 73 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 polyneuropathy and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2t is MME (Membrane Metalloendopeptidase). 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) (Updated 05-Mar-2021)

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 top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 polyneuropathy 29.7 SH3TC2 LRSAM1 IGHMBP2 GDAP1
2 tooth disease 28.5 TRIM2 SH3TC2 MME LRSAM1 IGHMBP2 GDAP1
3 charcot-marie-tooth disease 27.8 TRIM2 SLC12A6 SH3TC2 MME LRSAM1 IGHMBP2
4 neuropathy 27.5 ZFYVE26 TRIM2 SLC12A6 SH3TC2 MTRFR MME
5 spinocerebellar ataxia 43 11.4
6 cerebellar ataxia type 43 11.0
7 dnajb2-related charcot-marie-tooth disease type 2 10.4 MME DNAJB2
8 autosomal dominant intermediate charcot-marie-tooth 10.3 SH3TC2 IGHMBP2
9 neuropathy, hereditary sensory, type iic 10.3 SPG21 MTRFR
10 charcot-marie-tooth disease, axonal, type 2b 10.2 SH3TC2 GDAP1
11 charcot-marie-tooth disease, axonal, type 2a1 10.2 LRSAM1 GDAP1
12 spastic paraplegia 63, autosomal recessive 10.2 SPG21 MTRFR
13 charcot-marie-tooth disease, axonal, type 2k 10.2 GDAP1 DNAJB2
14 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 LRSAM1 IGHMBP2
15 charcot-marie-tooth disease, dominant intermediate e 10.2 SH3TC2 GDAP1
16 charcot-marie-tooth disease, axonal, type 2j 10.2 SH3TC2 GDAP1
17 spinal muscular atrophy with lower extremity predominance 10.2 IGHMBP2 GDAP1
18 charcot-marie-tooth disease, axonal, type 2i 10.2 SH3TC2 GDAP1
19 autosomal dominant distal hereditary motor neuronopathy 10.2 SH3TC2 IGHMBP2
20 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
21 charcot-marie-tooth disease type x 10.2 SH3TC2 GDAP1
22 charcot-marie-tooth disease, type 4b3 10.2 SH3TC2 GDAP1
23 charcot-marie-tooth disease, demyelinating, type 4f 10.2 SH3TC2 GDAP1
24 charcot-marie-tooth disease, dominant intermediate b 10.2 SH3TC2 GDAP1
25 hereditary motor and sensory neuropathy, type iic 10.2 SH3TC2 GDAP1
26 axonal hereditary motor and sensory neuropathy 10.2 SLC12A6 MME
27 autosomal recessive axonal hereditary motor and sensory neuropathy 10.2 SLC12A6 MME
28 charcot-marie-tooth disease, x-linked dominant, 1 10.2 SH3TC2 GDAP1
29 charcot-marie-tooth disease, type 4a 10.1 SH3TC2 GDAP1
30 charcot-marie-tooth disease, type 4h 10.1 SH3TC2 GDAP1
31 charcot-marie-tooth disease, axonal, type 2d 10.1 SH3TC2 GDAP1
32 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 SPG21
33 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 SPG21
34 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 SPG21
35 hereditary spastic paraplegia 23 10.1 ZFYVE26 SPG21
36 charcot-marie-tooth disease, type 4d 10.1 SH3TC2 GDAP1
37 spastic paraplegia 37, autosomal dominant 10.1 ZFYVE26 SPG21
38 spastic paraplegia 34, x-linked 10.1 ZFYVE26 SPG21
39 charcot-marie-tooth disease, demyelinating, type 1b 10.1 SH3TC2 GDAP1
40 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG21
41 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21
42 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG21
43 spastic paraplegia 61, autosomal recessive 10.1 ZFYVE26 SPG21
44 spastic paraplegia 33, autosomal dominant 10.1 ZFYVE26 SPG21
45 spastic paraplegia 18, autosomal recessive 10.1 ZFYVE26 SPG21
46 spastic paraplegia 73, autosomal dominant 10.1 SPG21 GBA2
47 charcot-marie-tooth disease, demyelinating, type 1c 10.1 SH3TC2 LRSAM1 GDAP1
48 spastic paraplegia 11, autosomal recessive 10.1 ZFYVE26 SPG21
49 charcot-marie-tooth disease, type 4j 10.1 SH3TC2 GDAP1
50 neuropathy, hereditary, with liability to pressure palsies 10.1 SH3TC2 LRSAM1 GDAP1

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
2 peripheral axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003477
3 distal upper limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008959
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
6 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
7 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
8 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
9 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
10 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
11 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
12 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
13 cogwheel rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002396
14 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
15 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
16 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
17 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
18 decreased number of large peripheral myelinated nerve fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003387
19 hypometric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000571
20 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
21 progressive cerebellar ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002073
22 dementia 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 COX6A1 CYP2U1 DNAJB2 GAN GDAP1 IGHMBP2
2 nervous system MP:0003631 9.32 COX6A1 GAN GDAP1 IGHMBP2 LRSAM1 MME

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

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. 61 57 6
26991897 2016
2
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. 6 57
27588448 2016
3
Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy. 61
28855494 2017
4
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T. 61
27458975 2016
5
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
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 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJB2 NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) SNV Pathogenic 209147 rs797045039 2:220146774-220146774 2:219282052-219282052
2 MME NM_000902.4(MME):c.1861T>C (p.Cys621Arg) SNV Pathogenic 242839 rs879253752 3:154886361-154886361 3:155168572-155168572
3 MME NM_000902.4(MME):c.654+1G>A SNV Pathogenic 242837 rs1057519023 3:154834776-154834776 3:155116987-155116987
4 MME NM_000902.4(MME):c.439+2T>A SNV Pathogenic 242840 rs1057519024 3:154834350-154834350 3:155116561-155116561
5 MME NM_000902.4(MME):c.655-2A>G SNV Pathogenic 242841 rs765591205 3:154836533-154836533 3:155118744-155118744
6 MME NM_000902.4(MME):c.661C>T (p.Gln221Ter) SNV Pathogenic 242838 rs879253751 3:154836541-154836541 3:155118752-155118752
7 MME NM_000902.4(MME):c.71G>A (p.Trp24Ter) SNV risk factor 265743 rs886039755 3:154802027-154802027 3:155084238-155084238
8 MME NM_000902.4(MME):c.1265C>A (p.Ala422Asp) SNV risk factor 265744 rs777476150 3:154861308-154861308 3:155143519-155143519
9 MME NM_007287.3(MME):c.1666C>T (p.Pro556Ser) SNV Likely pathogenic 617584 rs1559961997 3:154884696-154884696 3:155166907-155166907
10 MME NM_007287.3(MME):c.1972G>A (p.Ala658Thr) SNV Likely pathogenic 617585 rs1559963660 3:154886578-154886578 3:155168789-155168789
11 MME NM_007289.4(MME):c.202C>T (p.Arg68Ter) SNV Likely pathogenic 851617 3:154832788-154832788 3:155114999-155114999
12 MME NM_000902.4(MME):c.467del (p.Pro156fs) Deletion risk factor 426945 rs749320057 3:154834479-154834479 3:155116690-155116690
13 MME NM_007289.4(MME):c.307C>T (p.Arg103Cys) SNV Uncertain significance 982975 3:154832893-154832893 3:155115104-155115104
14 MME NM_007289.4(MME):c.2072C>T (p.Ala691Val) SNV Uncertain significance 812145 rs1414684441 3:154889997-154889997 3:155172208-155172208
15 MME NM_007289.4(MME):c.1574A>C (p.Lys525Thr) SNV Uncertain significance 972705 3:154866415-154866415 3:155148626-155148626
16 MME NM_000902.4(MME):c.1272del (p.Arg425fs) Deletion Uncertain significance 403669 rs1060499935 3:154861312-154861312 3:155143523-155143523
17 MME NM_000902.4(MME):c.1904G>A (p.Gly635Asp) SNV Uncertain significance 403670 rs151302020 3:154886404-154886404 3:155168615-155168615

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

73
# 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

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

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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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72 UMLS via Orphanet
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