MCID: PMP012
MIFTS: 11

Pmp2-Related Charcot-Marie-Tooth Disease Type 1

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

Aliases & Classifications for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

MalaCards integrated aliases for Pmp2-Related Charcot-Marie-Tooth Disease Type 1:

Name: Pmp2-Related Charcot-Marie-Tooth Disease Type 1 60
Pmp2-Related Hereditary Motor and Sensory Neuropathy Type 1 60
Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 60
Pmp2-Related Cmt1 60

Classifications:



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Orphanet 60 ORPHA476394

Summaries for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

MalaCards based summary : Pmp2-Related Charcot-Marie-Tooth Disease Type 1, is also known as pmp2-related hereditary motor and sensory neuropathy type 1. An important gene associated with Pmp2-Related Charcot-Marie-Tooth Disease Type 1 is PMP2 (Peripheral Myelin Protein 2).

Related Diseases for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Symptoms & Phenotypes for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Drugs & Therapeutics for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Search Clinical Trials , NIH Clinical Center for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Genetic Tests for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Anatomical Context for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Publications for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Variations for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Expression for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Search GEO for disease gene expression data for Pmp2-Related Charcot-Marie-Tooth Disease Type 1.

Pathways for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

GO Terms for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

Sources for Pmp2-Related Charcot-Marie-Tooth Disease Type 1

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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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