MCID: CHR652
MIFTS: 27

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

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2i 57 53
Charcot-Marie-Tooth Disease Type 2i 12 53 29 6 15
Charcot-Marie-Tooth Disease, Type 2i 57 13 40 73
Cmt2i 57 12 59 75
Charcot-Marie-Tooth Neuropathy Type 2i 12 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i 59
Charcot-Marie-Tooth Disease Neuronal Type 2i 75
Charcot-Marie-Tooth Disease Axonal Type 2i 75
Charcot-Marie-Tooth Neuropathy, Type 2i 57
Charcot Marie Tooth Disease Type 2i 53
Charcot-Marie-Tooth Disease 2i 75
Cmt 2i 53

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
onset in fourth to sixth decade
genetic heterogeneity of axonal cmt (see cmt2a )


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607677
Disease Ontology 12 DOID:0110158
ICD10 33 G60.0
Orphanet 59 ORPHA99942
UMLS via Orphanet 74 C3888087
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607
UMLS 73 C3888087

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

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2I: 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. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2i, also known as charcot-marie-tooth disease type 2i, is related to charcot-marie-tooth disease, axonal, type 2l and charcot-marie-tooth disease type 2l. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2i is MPZ (Myelin Protein Zero). Related phenotypes are pes cavus and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Description from OMIM: 607677

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

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2l 31.5 KIF1B MPZ
2 charcot-marie-tooth disease type 2l 11.4
3 charcot-marie-tooth disease, axonal, type 2j 9.7 KIF1B MPZ
4 charcot-marie-tooth disease, demyelinating, type 1c 9.7 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2f 9.7 KIF1B MPZ
6 charcot-marie-tooth disease, demyelinating, type 1b 9.7 KIF1B MPZ
7 neuropathy, hereditary, with liability to pressure palsies 9.7 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2b 9.7 KIF1B MPZ
9 motor peripheral neuropathy 9.6 KIF1B MPZ
10 charcot-marie-tooth disease, demyelinating, type 1a 9.6 KIF1B MPZ
11 charcot-marie-tooth disease, demyelinating, type 1d 9.6 KIF1B MPZ
12 hereditary motor and sensory neuropathy, type iic 9.6 KIF1B MPZ
13 charcot-marie-tooth disease and deafness 9.5 KIF1B MPZ
14 hypertrophic neuropathy of dejerine-sottas 9.5 KIF1B MPZ
15 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.4 KIF1B MPZ
16 charcot-marie-tooth disease, axonal, type 2e 9.3 KIF1B MPZ
17 tooth disease 9.2 KIF1B MPZ
18 charcot-marie-tooth disease 9.0 KIF1B MPZ

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

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

Clinical features from OMIM:

607677

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 areflexia 32 HP:0001284
3 hyporeflexia 32 HP:0001265
4 distal muscle weakness 32 HP:0002460
5 steppage gait 32 HP:0003376
6 distal amyotrophy 32 HP:0003693
7 distal sensory impairment 32 HP:0002936
8 upper limb muscle weakness 32 HP:0003484
9 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
10 axonal degeneration/regeneration 32 HP:0003378

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

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

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

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

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

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

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

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

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

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 MPZ p.Ser44Phe VAR_004503 rs121913598
2 MPZ p.His81Arg VAR_004513 rs121913594
3 MPZ p.Thr124Met VAR_004529 rs121913595
4 MPZ p.Lys130Arg VAR_004534 rs281865127
5 MPZ p.Gly167Arg VAR_004544 rs121913586
6 MPZ p.Asp75Val VAR_015973 rs121913597
7 MPZ p.Ile89Asn VAR_015974 rs267607244
8 MPZ p.Val92Met VAR_015975 rs267607245
9 MPZ p.Ile162Met VAR_015980 rs267607246
10 MPZ p.Asp118Asn VAR_021609
11 MPZ p.Lys236Glu VAR_021610
12 MPZ p.Asp60His VAR_029972 rs121913604
13 MPZ p.Ile62Met VAR_029973 rs121913605

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

6
# 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.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh37 Chromosome 1, 161277151: 161277151
4 MPZ NM_000530.7(MPZ): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs121913598 GRCh38 Chromosome 1, 161307361: 161307361
5 MPZ NM_000530.7(MPZ): c.178G> C (p.Asp60His) single nucleotide variant Pathogenic rs121913604 GRCh37 Chromosome 1, 161277104: 161277104
6 MPZ NM_000530.7(MPZ): c.178G> C (p.Asp60His) single nucleotide variant Pathogenic rs121913604 GRCh38 Chromosome 1, 161307314: 161307314
7 MPZ NM_000530.7(MPZ): c.186C> G (p.Ile62Met) single nucleotide variant Pathogenic rs121913605 GRCh37 Chromosome 1, 161277096: 161277096
8 MPZ NM_000530.7(MPZ): c.186C> G (p.Ile62Met) single nucleotide variant Pathogenic rs121913605 GRCh38 Chromosome 1, 161307306: 161307306
9 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
10 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 2i

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

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

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

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

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