MCID: CHR701
MIFTS: 15

Charcot-Marie-Tooth Disease Type 1g

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

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

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

Name: Charcot-Marie-Tooth Disease Type 1g 12 17
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 12 29 6
Pmp2-Related Hereditary Motor and Sensory Neuropathy Type 1 12
Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 12
Pmp2-Related Cmt1 12
Cmt1g 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111560

Summaries for Charcot-Marie-Tooth Disease Type 1g

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has material basis in heterozygous mutation in PMP2 on chromosome 8q21.13.

MalaCards based summary : Charcot-Marie-Tooth Disease Type 1g, also known as pmp2-related charcot-marie-tooth disease type 1, is related to charcot-marie-tooth disease, demyelinating, type 1g. An important gene associated with Charcot-Marie-Tooth Disease Type 1g is PMP2 (Peripheral Myelin Protein 2).

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1g 11.4

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

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

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

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

Genetic tests related to Charcot-Marie-Tooth Disease Type 1g:

# Genetic test Affiliating Genes
1 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 29 PMP2

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

Publications for Charcot-Marie-Tooth Disease Type 1g

Articles related to Charcot-Marie-Tooth Disease 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. 6
30249361 2018
2
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. 6
27009151 2016
3
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. 6
26828946 2016
4
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015

Variations for Charcot-Marie-Tooth Disease Type 1g

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) SNV Pathogenic 243087 rs879253869 8:82357170-82357170 8:81444935-81444935
2 PMP2 NM_002677.5(PMP2):c.151A>C (p.Thr51Pro) SNV Pathogenic 599407 rs1563518390 8:82357147-82357147 8:81444912-81444912
3 PMP2 NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) SNV Likely pathogenic 599406 rs1563518388 8:82357143-82357143 8:81444908-81444908

Expression for Charcot-Marie-Tooth Disease Type 1g

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

Pathways for Charcot-Marie-Tooth Disease Type 1g

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

Sources for Charcot-Marie-Tooth Disease 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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