Pmp2-Related Charcot-Marie-Tooth Disease Type 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁶⁰ ORPHA476394

Sources

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).

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Genes related to Pmp2-Related Charcot-Marie-Tooth Disease Type 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PMP2	Peripheral Myelin Protein 2	Protein Coding	350	Causative germline mutation ⁶⁰

Sources

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

Sources

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.

Sources

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

Sources

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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia