CMT1G
MCID: CHR681
MIFTS: 20

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 57 72 6
Cmt1g 57 72
Pmp2-Related Hereditary Motor and Sensory Neuropathy Type 1 58
Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 58
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 58
Charcot-Marie-Tooth Disease, Demyelinating, 1g 72
Pmp2-Related Cmt1 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
charcot-marie-tooth disease, demyelinating, type 1g:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 618279
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
Orphanet 58 ORPHA476394

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

UniProtKB/Swiss-Prot : 72 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, also known as cmt1g, is related to charcot-marie-tooth disease type 1g. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1g is PMP2 (Peripheral Myelin Protein 2). Related phenotypes are pes cavus and steppage gait

OMIM® : 57 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) (Updated 05-Apr-2021)

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

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1g via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 1g 11.0

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

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

31
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 steppage gait 31 HP:0003376
3 frequent falls 31 HP:0002359
4 difficulty walking 31 HP:0002355
5 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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:
steppage gait
frequent falls
difficulty walking
difficulty writing
chronic denervation seen on emg
more

Clinical features from OMIM®:

618279 (Updated 05-Apr-2021)

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 PMID 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. 57 6
30249361 2018
2
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. 57 6
27009151 2016
3
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. 6 57
26828946 2016
4
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6 57
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 Name Type Significance ClinVarId dbSNP ID Position
1 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) SNV Pathogenic 243087 rs879253869 GRCh37: 8:82357170-82357170
GRCh38: 8:81444935-81444935
2 PMP2 NM_002677.5(PMP2):c.151A>C (p.Thr51Pro) SNV Pathogenic 599407 rs1563518390 GRCh37: 8:82357147-82357147
GRCh38: 8:81444912-81444912
3 PMP2 NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) SNV Likely pathogenic 599406 rs1563518388 GRCh37: 8:82357143-82357143
GRCh38: 8:81444908-81444908

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1g:

72
# Symbol AA change Variation ID SNP ID
1 PMP2 p.Ile43Asn VAR_081897 rs879253869
2 PMP2 p.Thr51Pro VAR_081898 rs156351839
3 PMP2 p.Ile52Thr VAR_081899 rs156351838

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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