CMT1G
MCID: CHR681
MIFTS: 21

Charcot-Marie-Tooth Disease, Demyelinating, Type 1g (CMT1G)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 58 76 6
Cmt1g 58 76
Pmp2-Related Hereditary Motor and Sensory Neuropathy Type 1 60
Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 60
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 60
Charcot-Marie-Tooth Disease, Demyelinating, 1g 76
Pmp2-Related Cmt1 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in first or second decades
lower limbs are more affected than upper limbs


HPO:

33
charcot-marie-tooth disease, demyelinating, type 1g:
Onset and clinical course slow progression


Classifications:



External Ids:

OMIM 58 618279
MeSH 45 D002607
Orphanet 60 ORPHA476394
MedGen 43 CN258117
SNOMED-CT via HPO 70 205091006 228158008 27253007

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease, demyelinating, 1G: An autosomal dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1g, is also known as cmt1g. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1g is PMP2 (Peripheral Myelin Protein 2). Related phenotypes are pes cavus and difficulty walking

OMIM : 58 Charcot-Marie-Tooth disease type 1G is an autosomal dominant progressive peripheral sensorimotor neuropathy characterized by distal muscle weakness and atrophy with onset in the first or second decade. Affected individuals have difficulty walking, distal sensory impairment with decreased or absent reflexes, and often have foot deformities. Median motor nerve conduction velocities (NCV) are decreased (less than 38 m/s) and sural nerve biopsy shows myelin defects and onion bulb formation (summary by Hong et al., 2016 and Motley et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (618279)

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1g:

33
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 difficulty walking 33 HP:0002355
3 frequent falls 33 HP:0002359
4 steppage gait 33 HP:0003376
5 onion bulb formation 33 HP:0003383

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities

Neurologic Peripheral Nervous System:
onion bulb formation
demyelinating sensorimotor peripheral neuropathy
thin myelin
distal sensory impairment, vibration more than pain
hypo- or areflexia, particularly of the lower limbs
more
Muscle Soft Tissue:
difficulty walking
frequent falls
steppage gait
difficulty writing
chronic denervation seen on emg
more

Clinical features from OMIM:

618279

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1g:

# Title Authors Year
1
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. ( 30249361 )
2018
2
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. ( 27009151 )
2016
3
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. ( 26257172 )
2015

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP2 NM_002677.5(PMP2): c.128T> A (p.Ile43Asn) single nucleotide variant Likely pathogenic rs879253869 GRCh38 Chromosome 8, 81444935: 81444935
2 PMP2 NM_002677.5(PMP2): c.128T> A (p.Ile43Asn) single nucleotide variant Likely pathogenic rs879253869 GRCh37 Chromosome 8, 82357170: 82357170
3 PMP2 NM_002677.5(PMP2): c.155T> C (p.Ile52Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 81444908: 81444908
4 PMP2 NM_002677.5(PMP2): c.155T> C (p.Ile52Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 82357143: 82357143
5 PMP2 NM_002677.5(PMP2): c.151A> C (p.Thr51Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 81444912: 81444912
6 PMP2 NM_002677.5(PMP2): c.151A> C (p.Thr51Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 82357147: 82357147

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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