congenital disorder of glycosylation type IIk

Summary
Synonym
  • CDG IIk
  • CDG syndrome type IIk
  • CDG2K
  • CDGIIk
  • Carbohydrate deficient glycoprotein syndrome type IIk
  • Congenital disorder of glycosylation type 2k
  • TMEM165-CDG
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
Disease Ontology
DOID:0070263
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55858 TMEM165 transmembrane protein 165
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
HPO ID HPO Term
HP:0000272 Malar flattening
HP:0000007 Autosomal recessive inheritance
HP:0000358 Posteriorly rotated ears
HP:0001382 Joint hypermobility
HP:0002751 Kyphoscoliosis
HP:0001250 Seizure
HP:0005575 Hemolytic-uremic syndrome
HP:0001955 Unexplained fevers
HP:0000705 Amelogenesis imperfecta
HP:0004322 Short stature
Displaying 1 entry
Gene ID Gene Symbol Description
55858 TMEM165 transmembrane protein 165

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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: April 7, 2025