Charcot-Marie-Tooth disease type 4G

Summary
Synonym
  • CMT4G
  • Charcot-Marie-Tooth neuropathy type 4G
  • HMSNR
  • autosomal recessive Charcot-Marie-Tooth disease type 4G
  • hereditary motor and sensory neuropathy Russe type
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
Super Class
Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
Disease Ontology
DOID:0110196
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
15275 Hk1 hexokinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25058 Hk1 hexokinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43191 Hex-t2 Hexokinase testis 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850614 HXK1 hexokinase 1
852639 HXK2 hexokinase 2
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
The Human Phenotype Ontology
Displaying entries 11 - 20 of 40 in total
HPO ID HPO Term
HP:0011096 Peripheral demyelination
HP:0002650 Scoliosis
HP:0007210 Lower limb amyotrophy
HP:0001155 Abnormality of the hand
HP:0003431 Decreased motor nerve conduction velocity
HP:0008081 Pes valgus
HP:0001762 Talipes equinovarus
HP:0010830 Impaired tactile sensation
HP:0002505 Loss of ambulation
HP:0007108 Demyelinating peripheral neuropathy
Displaying 1 entry
Gene ID Gene Symbol Description
3098 HK1 hexokinase 1

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Acknowledgements

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Last updated: August 19, 2024