Charcot-Marie-Tooth disease type 4H

Summary
Synonym
  • CMT4H
  • Charcot-Marie-Tooth neuropathy type 4H
  • autosomal recessive Charcot-Marie-Tooth disease type 4H
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
Super Class
Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
Disease Ontology
DOID:0110192
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024