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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0003701 Proximal muscle weakness
HP:0002495 Impaired vibratory sensation
HP:0009129 Upper limb amyotrophy
HP:0001761 Pes cavus
HP:0007328 Impaired pain sensation
HP:0003409 Distal sensory impairment of all modalities
HP:0001284 Areflexia
HP:0003477 Peripheral axonal neuropathy
HP:0008959 Distal upper limb muscle weakness
HP:0002141 Gait imbalance
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