congenital disorder of glycosylation type IIj

Summary
Synonym
  • CDG IIj
  • CDG syndrome type IIj
  • CDG2J
  • CDGIIdj
  • COG4-CDG
  • Carbohydrate deficient glycoprotein syndrome type IIj
  • Congenital disorder of glycosylation type 2j
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070262
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
25839 COG4 component of oligomeric golgi complex 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
856220 COG4 Golgi transport complex subunit COG4
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0002509 Limb hypertonia
HP:0100874 Thick hair
HP:0001347 Hyperreflexia
HP:0006892 Frontotemporal cerebral atrophy
HP:0000737 Irritability
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0011968 Feeding difficulties
HP:0001531 Failure to thrive in infancy
HP:0000340 Sloping forehead
HP:0002910 Elevated circulating hepatic transaminase concentration
Displaying 1 entry
Gene ID Gene Symbol Description
25839 COG4 component of oligomeric golgi complex 4

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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