Charcot-Marie-Tooth disease type 4B1

Summary
Synonym
  • CMT4B1
  • Charcot-Marie-Tooth neuropathy type 4B1
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
Super Class
Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
Disease Ontology
DOID:0110191
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 30 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0003693 Distal amyotrophy
HP:0002460 Distal muscle weakness
HP:0007208 Irregular myelin loops
HP:0001270 Motor delay
HP:0004336 Myelin outfoldings
HP:0002936 Distal sensory impairment
HP:0000007 Autosomal recessive inheritance
HP:0003431 Decreased motor nerve conduction velocity
HP:0006958 Abnormal auditory evoked potentials
HP:0001762 Talipes equinovarus
Displaying 1 entry
Gene ID Gene Symbol Description
8898 MTMR2 myotubularin related protein 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