Charcot-Marie-Tooth disease recessive intermediate C

Summary
Synonym
  • CMTRIC
  • RI-CMT type C
  • RI-CMTC
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
Super Class
Charcot-Marie-Tooth disease intermediate type autosomal recessive disease
External Links
Disease Ontology
DOID:0110198
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 29 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

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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