MCID: CHR542
MIFTS: 32

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

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Rare 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 73
Cmt2t 57 12 59 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t 57 75
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 75
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 75
Charcot-Marie-Tooth Neuropathy Type 2t 12
Charcot-Marie-Tooth Disease Type 2t 59
Mme-Related Autosomal Dominant Cmt2 59
Spinocerebellar Ataxia Type 43 59
Charcot-Marie-Tooth Disease 2t 75
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:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 peripheral axonal neuropathy and distal upper limb muscle weakness

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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.3 COX6A1 DNAJB2 MME TRIM2
2 spinocerebellar ataxia 43 11.6
3 autosomal dominant cerebellar ataxia 9.9
4 neuropathy 9.9
5 tooth disease 9.9
6 spastic paraplegia 15, autosomal recessive 9.6 CYP2U1 SPG21
7 charcot-marie-tooth disease intermediate type 9.5 COX6A1 DNAJB2 TRIM2
8 spastic paraplegia 35, autosomal recessive 9.5 CYP2U1 SPG21
9 spastic paraplegia 56, autosomal recessive 9.3 COX6A1 CYP2U1 TRIM2
10 hereditary spastic paraplegia 9.2 CYP2U1 SPG21
11 charcot-marie-tooth disease type 2a2 8.9 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2b2 8.8 COX6A1 DNAJB2 SPG21 TRIM2
13 amyotrophic lateral sclerosis type 5 8.8 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2b1 8.8 COX6A1 DNAJB2 SPG21 TRIM2
15 spastic paraplegia 46, autosomal recessive 8.6 COX6A1 CYP2U1 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2h 7.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease, recessive intermediate d 7.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
18 spastic paraplegia 55, autosomal recessive 7.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
19 charcot-marie-tooth disease, axonal, type 2r 7.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
20 charcot-marie-tooth disease, axonal, type 2p 7.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
21 charcot-marie-tooth disease, axonal, type 2e 6.9 C12orf65 COX6A1 CYP2U1 DNAJB2 MME SPG21

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

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

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 peripheral axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003477
2 distal upper limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0008959
3 distal lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009053
4 hypometric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000571
5 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
8 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
9 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
10 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
11 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
12 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
13 cogwheel rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002396
14 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
15 decreased number of large peripheral myelinated nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003387
16 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
17 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
18 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
19 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
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%)

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 DNAJB2 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

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

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

75
# 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

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

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB2 NM_001039550.1(DNAJB2): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs797045039 GRCh37 Chromosome 2, 220146774: 220146774
2 DNAJB2 NM_001039550.1(DNAJB2): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs797045039 GRCh38 Chromosome 2, 219282052: 219282052
3 MME NG_051105.1: g.97864G> A single nucleotide variant Pathogenic rs1057519023 GRCh38 Chromosome 3, 155116987: 155116987
4 MME NG_051105.1: g.97864G> A single nucleotide variant Pathogenic rs1057519023 GRCh37 Chromosome 3, 154834776: 154834776
5 MME NM_000902.3(MME): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic rs879253751 GRCh37 Chromosome 3, 154836541: 154836541
6 MME NM_000902.3(MME): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic rs879253751 GRCh38 Chromosome 3, 155118752: 155118752
7 MME NM_000902.3(MME): c.1861T> C (p.Cys621Arg) single nucleotide variant Pathogenic rs879253752 GRCh37 Chromosome 3, 154886361: 154886361
8 MME NM_000902.3(MME): c.1861T> C (p.Cys621Arg) single nucleotide variant Pathogenic rs879253752 GRCh38 Chromosome 3, 155168572: 155168572
9 MME NG_051105.1: g.97438T> A single nucleotide variant Pathogenic rs1057519024 GRCh38 Chromosome 3, 155116561: 155116561
10 MME NG_051105.1: g.97438T> A single nucleotide variant Pathogenic rs1057519024 GRCh37 Chromosome 3, 154834350: 154834350
11 MME NG_051105.1: g.99621A> G single nucleotide variant Pathogenic rs765591205 GRCh38 Chromosome 3, 155118744: 155118744
12 MME NG_051105.1: g.99621A> G single nucleotide variant Pathogenic rs765591205 GRCh37 Chromosome 3, 154836533: 154836533
13 MME NM_000902.3(MME): c.71G> A (p.Trp24Ter) single nucleotide variant risk factor rs886039755 GRCh38 Chromosome 3, 155084238: 155084238
14 MME NM_000902.3(MME): c.71G> A (p.Trp24Ter) single nucleotide variant risk factor rs886039755 GRCh37 Chromosome 3, 154802027: 154802027
15 MME NM_000902.3(MME): c.1265C> A (p.Ala422Asp) single nucleotide variant risk factor rs777476150 GRCh38 Chromosome 3, 155143519: 155143519
16 MME NM_000902.3(MME): c.1265C> A (p.Ala422Asp) single nucleotide variant risk factor rs777476150 GRCh37 Chromosome 3, 154861308: 154861308
17 MME NM_000902.3(MME): c.1269delG (p.Arg425Glyfs) deletion Uncertain significance rs1060499935 GRCh37 Chromosome 3, 154861312: 154861312
18 MME NM_000902.3(MME): c.1269delG (p.Arg425Glyfs) deletion Uncertain significance rs1060499935 GRCh38 Chromosome 3, 155143523: 155143523
19 MME NM_000902.3(MME): c.1904G> A (p.Gly635Asp) single nucleotide variant Uncertain significance rs151302020 GRCh37 Chromosome 3, 154886404: 154886404
20 MME NM_000902.3(MME): c.1904G> A (p.Gly635Asp) single nucleotide variant Uncertain significance rs151302020 GRCh38 Chromosome 3, 155168615: 155168615
21 MME NM_007289.2(MME): c.467delC (p.Pro156Leufs) deletion Pathogenic rs749320057 GRCh37 Chromosome 3, 154834480: 154834480
22 MME NM_007289.2(MME): c.467delC (p.Pro156Leufs) deletion Pathogenic rs749320057 GRCh38 Chromosome 3, 155116691: 155116691

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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