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 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10855 HPSE heparanase
23175 LPIN1 lipin 1
23600 AMACR alpha-methylacyl-CoA racemase
27036 SIGLEC7 sialic acid binding Ig like lectin 7
51196 PLCE1 phospholipase C epsilon 1
84649 DGAT2 diacylglycerol O-acyltransferase 2
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 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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Last updated: August 19, 2024