CMT2J
MCID: CHR657
MIFTS: 30

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 73
Cmt2j 57 12 59 75
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 75
Charcot-Marie-Tooth Neuropathy Type 2j 12 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j 59
Charcot-Marie-Tooth Disease Neuronal Type 2j 75
Charcot-Marie-Tooth Disease Axonal Type 2j 75
Charcot-Marie-Tooth Neuropathy, Type 2j 57
Charcot Marie Tooth Disease Type 2j 53
Charcot-Marie-Tooth Disease 2j 75
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:

OMIM 57 607736
Disease Ontology 12 DOID:0110157
ICD10 33 G60.0
Orphanet 59 ORPHA99943
UMLS via Orphanet 74 C1843153
ICD10 via Orphanet 34 G60.0
MedGen 42 C1843153
MeSH 44 D002607
UMLS 73 C1843153

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

UniProtKB/Swiss-Prot : 75 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 skin and 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
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Deffect

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.5 KIF1B MPZ
2 tooth disease 30.5 KIF1B MPZ
3 adie pupil 11.6
4 charcot-marie-tooth disease, axonal, type 2i 9.9 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2f 9.9 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2d 9.9 KIF1B MPZ
7 charcot-marie-tooth disease, demyelinating, type 1c 9.9 KIF1B MPZ
8 charcot-marie-tooth disease, demyelinating, type 1b 9.9 KIF1B MPZ
9 charcot-marie-tooth disease, axonal, type 2b 9.9 KIF1B MPZ
10 motor peripheral neuropathy 9.9 KIF1B MPZ
11 charcot-marie-tooth disease, demyelinating, type 1a 9.9 KIF1B MPZ
12 charcot-marie-tooth disease, demyelinating, type 1d 9.9 KIF1B MPZ
13 neuropathy, hereditary, with liability to pressure palsies 9.9 KIF1B MPZ
14 hereditary motor and sensory neuropathy, type iic 9.9 KIF1B MPZ
15 charcot-marie-tooth disease, axonal, type 2l 9.8 KIF1B MPZ
16 charcot-marie-tooth disease and deafness 9.8 KIF1B MPZ
17 hypertrophic neuropathy of dejerine-sottas 9.8 KIF1B MPZ
18 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.8 KIF1B MPZ
19 peripheral nervous system disease 9.8 KIF1B MPZ
20 charcot-marie-tooth disease, axonal, type 2e 9.7 KIF1B MPZ

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia

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 Eyes:
slow pupillary reaction with slow light convergence reflex
absent pupillary reaction

Skeletal Feet:
pes cavus

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

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 pes cavus 32 HP:0001761
5 areflexia 32 HP:0001284
6 hyporeflexia 32 HP:0001265
7 abnormality of the respiratory system 32 HP:0002086
8 foot dorsiflexor weakness 32 HP:0009027
9 peripheral demyelination 32 HP:0011096
10 distal muscle weakness 32 HP:0002460
11 steppage gait 32 HP:0003376
12 distal amyotrophy 32 HP:0003693
13 distal sensory impairment 32 HP:0002936
14 progressive sensorineural hearing impairment 32 HP:0000408
15 axonal degeneration/regeneration 32 HP:0003378

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
Skin, Eye

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

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

# Title Authors Year
1
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. ( 26234237 )
2015

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

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

75
# 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

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
2 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
3 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
4 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
5 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
6 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh38 Chromosome 1, 161307268: 161307268
7 MPZ NM_000530.7(MPZ): c.290A> T (p.Glu97Val) single nucleotide variant Pathogenic rs121913606 GRCh37 Chromosome 1, 161276656: 161276656
8 MPZ NM_000530.7(MPZ): c.290A> T (p.Glu97Val) single nucleotide variant Pathogenic rs121913606 GRCh38 Chromosome 1, 161306866: 161306866
9 MPZ NM_000530.7(MPZ): c.313C> A (p.Pro105Thr) single nucleotide variant Likely pathogenic rs121913609 GRCh37 Chromosome 1, 161276633: 161276633
10 MPZ NM_000530.7(MPZ): c.313C> A (p.Pro105Thr) single nucleotide variant Likely pathogenic rs121913609 GRCh38 Chromosome 1, 161306843: 161306843
11 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh37 Chromosome 1, 161275729: 161275729
12 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh38 Chromosome 1, 161305939: 161305939
13 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh37 Chromosome 1, 161275943: 161275943
14 MPZ NM_000530.7(MPZ): c.600G> A (p.Gly200=) single nucleotide variant Benign rs16832790 GRCh38 Chromosome 1, 161306153: 161306153
15 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
16 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh37 Chromosome 1, 161276252: 161276252

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

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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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