congenital disorder of glycosylation type IIo

Summary
Synonym
  • CCDC115-CDG
  • CDG IIo
  • CDG syndrome type IIo
  • CDG2O
  • CDGIIdo
  • Carbohydrate deficient glycoprotein syndrome type IIo
  • Congenital disorder of glycosylation type 2o
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
Disease Ontology
DOID:0070267
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84317 CCDC115 coiled-coil domain containing 115
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0003124 Hypercholesterolemia
HP:0001394 Cirrhosis
HP:0012345 Abnormal glycosylation
HP:0000508 Ptosis
HP:0003593 Infantile onset
HP:0001999 Abnormal facial shape
HP:0000276 Long face
HP:0003202 Skeletal muscle atrophy
HP:0001433 Hepatosplenomegaly
HP:0010639 Elevated alkaline phosphatase of bone origin
Displaying 1 entry
Gene ID Gene Symbol Description
84317 CCDC115 coiled-coil domain containing 115

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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: December 9, 2024