Charcot-Marie-Tooth disease X-linked recessive 4

Summary
Synonym
  • CMT4X
  • CMTX4
  • Charcot-Marie-Tooth disease with deafness and mental retardation
  • Cowchock syndrome
  • NADMR
  • NAMSD
  • X-linked Charcot-Marie-Tooth disease type 4
  • axonal motor sensory neuropathy with deafness and mental retardation
Definition
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
Super Class
Charcot-Marie-Tooth disease type X X-linked recessive disease
External Links
Disease Ontology
DOID:0110212
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
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7

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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