CMT2R
MCID: CHR671
MIFTS: 28

Charcot-Marie-Tooth Disease, Axonal, Type 2r (CMT2R)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2r 58 30 6 41 74
Cmt2r 58 12 54 60 76
Charcot-Marie-Tooth Disease Type 2r 12 54 60 15
Charcot-Marie-Tooth Neuropathy, Type 2r 58 54 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r 58 54
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r 12
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r 76
Charcot-Marie-Tooth Neuropathy Axonal Type 2r 76
Charcot-Marie-Tooth Disease Axonal Type 2r 76
Charcot-Marie-Tooth Neuropathy Type 2r 12
Charcot-Marie-Tooth Disease, Type 2r 58
Charcot-Marie-Tooth Disease 2r 76

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
two unrelated patients have been reported (last curated july 2015)
patient b had a more severe phenotype


HPO:

33
charcot-marie-tooth disease, axonal, type 2r:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2R: 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 2r, also known as cmt2r, is related to charcot-marie-tooth disease and spastic paraplegia 46, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2r is TRIM2 (Tripartite Motif Containing 2). Related phenotypes are muscle weakness and respiratory insufficiency

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.

Description from OMIM: 615490

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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 9.7 COX6A1 DNAJB2 TRIM2
2 spastic paraplegia 46, autosomal recessive 9.5 COX6A1 SPG21
3 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
4 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
5 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
6 charcot-marie-tooth disease, axonal, type 2b2 9.1 COX6A1 DNAJB2 SPG21 TRIM2
7 charcot-marie-tooth disease, axonal, type 2h 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
9 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, recessive intermediate d 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
11 amyotrophic lateral sclerosis type 5 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2t 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2e 8.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2

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



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

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

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 respiratory insufficiency 33 HP:0002093
3 decreased muscle mass 33 HP:0003199
4 pes cavus 33 HP:0001761
5 inability to walk 33 HP:0002540
6 vocal cord paralysis 33 HP:0001605
7 talipes equinovarus 33 HP:0001762
8 areflexia 33 HP:0001284
9 tracheomalacia 33 HP:0002779
10 generalized hypotonia 33 HP:0001290
11 peripheral axonal neuropathy 33 HP:0003477
12 knee flexion contracture 33 HP:0006380
13 broad-based gait 33 HP:0002136
14 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
15 axonal degeneration 33 HP:0040078

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
decreased muscle mass
hypotonia, generalized
atrophy of the small muscles in the hands and feet

Neurologic Peripheral Nervous System:
areflexia
peripheral axonal neuropathy
broad-based gait
inability to walk on heels
loss of myelinated fibers
more
Growth Other:
slight build (patient a)

Respiratory Larynx:
tracheomalacia (patient b)
vocal cord paralysis (patient b)

Skeletal Feet:
pes cavus
pes equinovarus

Neurologic Central Nervous System:
delayed walking

Respiratory:
respiratory insufficiency (patient b)

Skeletal Limbs:
knee contractures (patient b)

Clinical features from OMIM:

615490

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2r 30 TRIM2

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

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 TRIM2 p.Glu227Val VAR_070874 rs587777063

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

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM2 NM_001130067.1(TRIM2): c.680A> T (p.Glu227Val) single nucleotide variant Pathogenic rs587777063 GRCh37 Chromosome 4, 154215612: 154215612
2 TRIM2 NM_001130067.1(TRIM2): c.680A> T (p.Glu227Val) single nucleotide variant Pathogenic rs587777063 GRCh38 Chromosome 4, 153294460: 153294460
3 TRIM2 NM_001130067.1(TRIM2): c.1700delA (p.Lys567Argfs) deletion Pathogenic rs587777838 GRCh38 Chromosome 4, 153315998: 153315998
4 TRIM2 NM_001130067.1(TRIM2): c.1700delA (p.Lys567Argfs) deletion Pathogenic rs587777838 GRCh37 Chromosome 4, 154237150: 154237150
5 TRIM2 NM_015271.4(TRIM2): c.2000A> C (p.Asp667Ala) single nucleotide variant Likely pathogenic rs879253863 GRCh37 Chromosome 4, 154245278: 154245278
6 TRIM2 NM_015271.4(TRIM2): c.2000A> C (p.Asp667Ala) single nucleotide variant Likely pathogenic rs879253863 GRCh38 Chromosome 4, 153324126: 153324126
7 TRIM2 NM_001130067.1(TRIM2): c.1013C> G (p.Thr338Ser) single nucleotide variant Uncertain significance rs146686472 GRCh37 Chromosome 4, 154216772: 154216772
8 TRIM2 NM_001130067.1(TRIM2): c.1013C> G (p.Thr338Ser) single nucleotide variant Uncertain significance rs146686472 GRCh38 Chromosome 4, 153295620: 153295620
9 TRIM2 NM_001130067.1(TRIM2): c.108C> T (p.Leu36=) single nucleotide variant Likely benign rs558845725 GRCh37 Chromosome 4, 154191645: 154191645
10 TRIM2 NM_001130067.1(TRIM2): c.108C> T (p.Leu36=) single nucleotide variant Likely benign rs558845725 GRCh38 Chromosome 4, 153270493: 153270493
11 TRIM2 NM_001130067.1(TRIM2): c.416G> A (p.Arg139Gln) single nucleotide variant Uncertain significance rs146252965 GRCh38 Chromosome 4, 153293025: 153293025
12 TRIM2 NM_001130067.1(TRIM2): c.416G> A (p.Arg139Gln) single nucleotide variant Uncertain significance rs146252965 GRCh37 Chromosome 4, 154214177: 154214177
13 TRIM2 NM_001130067.1(TRIM2): c.777G> A (p.Ala259=) single nucleotide variant Likely benign rs770000289 GRCh37 Chromosome 4, 154216536: 154216536
14 TRIM2 NM_001130067.1(TRIM2): c.777G> A (p.Ala259=) single nucleotide variant Likely benign rs770000289 GRCh38 Chromosome 4, 153295384: 153295384
15 TRIM2 NM_001130067.1(TRIM2): c.846C> T (p.Asn282=) single nucleotide variant Likely benign rs142242737 GRCh37 Chromosome 4, 154216605: 154216605
16 TRIM2 NM_001130067.1(TRIM2): c.846C> T (p.Asn282=) single nucleotide variant Likely benign rs142242737 GRCh38 Chromosome 4, 153295453: 153295453
17 TRIM2 NM_001130067.1(TRIM2): c.888C> T (p.Asn296=) single nucleotide variant Likely benign rs116365246 GRCh37 Chromosome 4, 154216647: 154216647
18 TRIM2 NM_001130067.1(TRIM2): c.888C> T (p.Asn296=) single nucleotide variant Likely benign rs116365246 GRCh38 Chromosome 4, 153295495: 153295495
19 TRIM2 NM_001130067.1(TRIM2): c.1287C> T (p.Pro429=) single nucleotide variant Likely benign rs1295920622 GRCh38 Chromosome 4, 153295894: 153295894
20 TRIM2 NM_001130067.1(TRIM2): c.1287C> T (p.Pro429=) single nucleotide variant Likely benign rs1295920622 GRCh37 Chromosome 4, 154217046: 154217046
21 TRIM2 NM_001130067.1(TRIM2): c.139C> T (p.Leu47=) single nucleotide variant Likely benign rs12644835 GRCh38 Chromosome 4, 153275897: 153275897
22 TRIM2 NM_001130067.1(TRIM2): c.139C> T (p.Leu47=) single nucleotide variant Likely benign rs12644835 GRCh37 Chromosome 4, 154197049: 154197049
23 TRIM2 NM_001130067.1(TRIM2): c.170C> T (p.Thr57Ile) single nucleotide variant Uncertain significance rs745985238 GRCh38 Chromosome 4, 153275928: 153275928
24 TRIM2 NM_001130067.1(TRIM2): c.170C> T (p.Thr57Ile) single nucleotide variant Uncertain significance rs745985238 GRCh37 Chromosome 4, 154197080: 154197080
25 TRIM2 NM_001130067.1(TRIM2): c.578T> C (p.Leu193Ser) single nucleotide variant Uncertain significance rs759938444 GRCh38 Chromosome 4, 153294358: 153294358
26 TRIM2 NM_001130067.1(TRIM2): c.578T> C (p.Leu193Ser) single nucleotide variant Uncertain significance rs759938444 GRCh37 Chromosome 4, 154215510: 154215510
27 TRIM2 NM_001130067.1(TRIM2): c.705+10G> A single nucleotide variant Likely benign rs1268924136 GRCh38 Chromosome 4, 153294495: 153294495
28 TRIM2 NM_001130067.1(TRIM2): c.705+10G> A single nucleotide variant Likely benign rs1268924136 GRCh37 Chromosome 4, 154215647: 154215647
29 TRIM2 NM_001130067.1(TRIM2): c.936C> T (p.Ile312=) single nucleotide variant Benign rs115515921 GRCh38 Chromosome 4, 153295543: 153295543
30 TRIM2 NM_001130067.1(TRIM2): c.936C> T (p.Ile312=) single nucleotide variant Benign rs115515921 GRCh37 Chromosome 4, 154216695: 154216695
31 TRIM2 NM_001130067.1(TRIM2): c.2116A> G (p.Ile706Val) single nucleotide variant Uncertain significance rs201921014 GRCh37 Chromosome 4, 154255999: 154255999
32 TRIM2 NM_001130067.1(TRIM2): c.2116A> G (p.Ile706Val) single nucleotide variant Uncertain significance rs201921014 GRCh38 Chromosome 4, 153334847: 153334847
33 TRIM2 NM_001130067.1(TRIM2): c.431G> C (p.Gly144Ala) single nucleotide variant Uncertain significance rs1553992552 GRCh38 Chromosome 4, 153293040: 153293040
34 TRIM2 NM_001130067.1(TRIM2): c.431G> C (p.Gly144Ala) single nucleotide variant Uncertain significance rs1553992552 GRCh37 Chromosome 4, 154214192: 154214192
35 TRIM2 NM_001130067.1(TRIM2): c.789C> T (p.Asn263=) single nucleotide variant Benign rs35333794 GRCh38 Chromosome 4, 153295396: 153295396
36 TRIM2 NM_001130067.1(TRIM2): c.789C> T (p.Asn263=) single nucleotide variant Benign rs35333794 GRCh37 Chromosome 4, 154216548: 154216548
37 TRIM2 NM_001130067.1(TRIM2): c.996C> T (p.Gly332=) single nucleotide variant Conflicting interpretations of pathogenicity rs116558260 GRCh38 Chromosome 4, 153295603: 153295603
38 TRIM2 NM_001130067.1(TRIM2): c.996C> T (p.Gly332=) single nucleotide variant Conflicting interpretations of pathogenicity rs116558260 GRCh37 Chromosome 4, 154216755: 154216755
39 TRIM2 NM_001130067.1(TRIM2): c.1659T> C (p.Asp553=) single nucleotide variant Likely benign rs756285274 GRCh38 Chromosome 4, 153315957: 153315957
40 TRIM2 NM_001130067.1(TRIM2): c.1659T> C (p.Asp553=) single nucleotide variant Likely benign rs756285274 GRCh37 Chromosome 4, 154237109: 154237109
41 TRIM2 NM_001130067.1(TRIM2): c.1883C> A (p.Ala628Glu) single nucleotide variant Uncertain significance rs1554002777 GRCh38 Chromosome 4, 153324090: 153324090
42 TRIM2 NM_001130067.1(TRIM2): c.1883C> A (p.Ala628Glu) single nucleotide variant Uncertain significance rs1554002777 GRCh37 Chromosome 4, 154245242: 154245242
43 TRIM2 NC_000004.12: g.(?_153204511)_(153276150_?)del deletion Pathogenic GRCh38 Chromosome 4, 153204511: 153276150
44 TRIM2 NC_000004.12: g.(?_153204511)_(153276150_?)del deletion Pathogenic GRCh37 Chromosome 4, 154125663: 154197302
45 TRIM2 NM_001130067.1(TRIM2): c.41G> A (p.Arg14His) single nucleotide variant Likely benign rs146705057 GRCh38 Chromosome 4, 153270426: 153270426
46 TRIM2 NM_001130067.1(TRIM2): c.41G> A (p.Arg14His) single nucleotide variant Likely benign rs146705057 GRCh37 Chromosome 4, 154191578: 154191578
47 TRIM2 NM_001130067.1(TRIM2): c.72T> C (p.Ser24=) single nucleotide variant Likely benign rs764154708 GRCh37 Chromosome 4, 154191609: 154191609
48 TRIM2 NM_001130067.1(TRIM2): c.72T> C (p.Ser24=) single nucleotide variant Likely benign rs764154708 GRCh38 Chromosome 4, 153270457: 153270457
49 TRIM2 NM_001130067.1(TRIM2): c.1592G> A (p.Gly531Glu) single nucleotide variant Uncertain significance rs1305793582 GRCh38 Chromosome 4, 153315890: 153315890
50 TRIM2 NM_001130067.1(TRIM2): c.1592G> A (p.Gly531Glu) single nucleotide variant Uncertain significance rs1305793582 GRCh37 Chromosome 4, 154237042: 154237042

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

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

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

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