MCID: CHR681
MIFTS: 14

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

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 6
Cmt1g 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 618279

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

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)

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

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

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

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

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11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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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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