Charcot-Marie-Tooth disease type 4J

Summary
Synonym
  • CMT4J
  • autosomal recessive Charcot-Marie-Tooth disease type 4J
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
Super Class
Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
Disease Ontology
DOID:0110184
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
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
33658 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855392 FIG4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase
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 - 17 of 17 in total
HPO ID HPO Term
HP:0001265 Hyporeflexia
HP:0005684 Distal arthrogryposis
HP:0002359 Frequent falls
HP:0007182 Peripheral hypomyelination
HP:0002936 Distal sensory impairment
HP:0001284 Areflexia
HP:0003676 Progressive
Displaying 1 entry
Gene ID Gene Symbol Description
9896 FIG4 FIG4 phosphoinositide 5-phosphatase

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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