Charcot-Marie-Tooth disease type 4E

Summary
Synonym
  • CMT4E
  • Charcot-Marie-Tooth neuropathy type 4E
  • Neuropathy, congenital hypomyelinating, 1
  • autosomal recessive congenital hypomyelinating or amyelinating neuropathy
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
Super Class
Charcot-Marie-Tooth disease type 4 autosomal dominant disease autosomal recessive disease
External Links
Disease Ontology
DOID:0110195
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10855 HPSE heparanase
23175 LPIN1 lipin 1
23600 AMACR alpha-methylacyl-CoA racemase
27036 SIGLEC7 sialic acid binding Ig like lectin 7
51196 PLCE1 phospholipase C epsilon 1
84649 DGAT2 diacylglycerol O-acyltransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024