CMT2J
MCID: CHR657
MIFTS: 33

Charcot-Marie-Tooth Disease, Axonal, Type 2j (CMT2J)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2j 57 53
Charcot-Marie-Tooth Disease Type 2j 12 53 29 6 15
Charcot-Marie-Tooth Disease, Type 2j 57 13 40 72
Cmt2j 57 12 59 74
Charcot-Marie-Tooth Disease, Type 2, with Hearing Loss and Pupillary Abnormalities 57 53
Charcot-Marie-Tooth Disease Type 2 with Hearing Loss and Pupillary Abnormalities 12 74
Charcot-Marie-Tooth Neuropathy Type 2j 12 74
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j 59
Charcot-Marie-Tooth Disease Neuronal Type 2j 74
Charcot-Marie-Tooth Disease Axonal Type 2j 74
Charcot-Marie-Tooth Neuropathy, Type 2j 57
Charcot Marie Tooth Disease Type 2j 53
Charcot-Marie-Tooth Disease 2j 74
Cmt 2j 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2j
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement occurs later
onset in fourth to sixth decades
sensorineural hearing loss may be presenting feature


HPO:

32
charcot-marie-tooth disease, axonal, type 2j:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110157
MeSH 44 D002607
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1843153
Orphanet 59 ORPHA99943
MedGen 42 C1843153
UMLS 72 C1843153

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

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 2J: A dominant 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. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2j, also known as charcot-marie-tooth disease type 2j, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2j is MPZ (Myelin Protein Zero). Affiliated tissues include eye, and related phenotypes are dysphagia and sensorineural hearing impairment

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

OMIM : 57 For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (607736)

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

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.5 MPZ KIF1B
2 tooth disease 30.5 MPZ KIF1B
3 adie pupil 11.8
4 branchiootic syndrome 1 10.5
5 polyneuropathy 10.5
6 axonal neuropathy 10.5
7 pure autonomic failure 10.5
8 autonomic dysfunction 10.5
9 charcot-marie-tooth disease, axonal, type 2i 9.7 MPZ KIF1B
10 charcot-marie-tooth disease, axonal, type 2f 9.7 MPZ KIF1B
11 charcot-marie-tooth disease, axonal, type 2d 9.7 MPZ KIF1B
12 charcot-marie-tooth disease, demyelinating, type 1c 9.6 MPZ KIF1B
13 charcot-marie-tooth disease, demyelinating, type 1b 9.6 MPZ KIF1B
14 charcot-marie-tooth disease, axonal, type 2b 9.6 MPZ KIF1B
15 motor peripheral neuropathy 9.6 MPZ KIF1B
16 charcot-marie-tooth disease, demyelinating, type 1a 9.6 MPZ KIF1B
17 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MPZ KIF1B
18 charcot-marie-tooth disease, axonal, type 2l 9.5 MPZ KIF1B
19 hereditary motor and sensory neuropathy, type iic 9.5 MPZ KIF1B
20 neuropathy, hereditary, with liability to pressure palsies 9.5 MPZ KIF1B
21 charcot-marie-tooth disease and deafness 9.4 MPZ KIF1B
22 hypertrophic neuropathy of dejerine-sottas 9.4 MPZ KIF1B
23 peripheral nervous system disease 9.3 MPZ KIF1B
24 charcot-marie-tooth disease, axonal, type 2e 9.1 MPZ KIF1B

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



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

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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 sensorineural hearing impairment 32 HP:0000407
3 abnormality of the eye 32 HP:0000478
4 areflexia 32 HP:0001284
5 pes cavus 32 HP:0001761
6 hyporeflexia 32 HP:0001265
7 abnormality of the respiratory system 32 HP:0002086
8 distal amyotrophy 32 HP:0003693
9 foot dorsiflexor weakness 32 HP:0009027
10 peripheral demyelination 32 HP:0011096
11 distal muscle weakness 32 HP:0002460
12 steppage gait 32 HP:0003376
13 distal sensory impairment 32 HP:0002936
14 progressive sensorineural hearing impairment 32 HP:0000408
15 axonal degeneration/regeneration 32 HP:0003378

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia

Skeletal Feet:
pes cavus

Head And Neck Eyes:
slow pupillary reaction with slow light convergence reflex
absent pupillary reaction

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Head And Neck Ears:
deafness
sensorineural hearing loss, progressive
brainstem auditory evoked potentials (baeps) suggest peripheral lesion

Respiratory:
coughing spasms, recurrent (reported in 1 family)

Clinical features from OMIM:

607736

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2j 29 MPZ

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

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

41
Eye

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

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

(show all 14)
# Title Authors PMID Year
1
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. 8 71
17663472 2007
2
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 8 71
16775239 2006
3
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. 8 71
15326256 2004
4
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). 8 71
15159512 2004
5
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 8 71
11080237 2000
6
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. 8 71
10329755 1999
7
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 8 71
10071056 1999
8
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. 71
10764043 2000
9
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
10
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
11
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 71
9452091 1998
12
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. 38
26234237 2015
13
Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family. 38
19629567 2009
14
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 38
15021985 2004

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

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

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MPZ NM_000530.8(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 1:161276204-161276204 1:161306414-161306414
2 MPZ NM_000530.8(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 1:161276575-161276575 1:161306785-161306785
3 MPZ NM_000530.8(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 1:161277058-161277058 1:161307268-161307268
4 MPZ NM_000530.8(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 1:161276512-161276512 1:161306722-161306722
5 MPZ NM_000530.8(MPZ): c.290A> T (p.Glu97Val) single nucleotide variant Pathogenic rs121913606 1:161276656-161276656 1:161306866-161306866
6 MPZ NM_000530.8(MPZ): c.397C> A (p.Pro133Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1553259648 1:161276549-161276549 1:161306759-161306759
7 MPZ NM_000530.8(MPZ): c.313C> A (p.Pro105Thr) single nucleotide variant Likely pathogenic rs121913609 1:161276633-161276633 1:161306843-161306843
8 MPZ NM_000530.8(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Conflicting interpretations of pathogenicity 1:161276252-161276252 1:161306462-161306462
9 MPZ NM_000530.8(MPZ): c.133C> T (p.Arg45Trp) single nucleotide variant Uncertain significance rs200151353 1:161277149-161277149 1:161307359-161307359
10 MPZ NM_000530.8(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 1:161275729-161275729 1:161305939-161305939
11 MPZ NM_000530.8(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 1:161275943-161275943 1:161306153-161306153

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

74
# Symbol AA change Variation ID SNP ID
1 MPZ p.Thr124Met VAR_004529 rs121913595
2 MPZ p.Asp75Val VAR_015973 rs121913597
3 MPZ p.Glu97Val VAR_029975 rs121913606

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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
Content
Loading form....