severe congenital neutropenia 4

Summary
Synonym
  • Dursun syndrome
  • SCN4
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Definition
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.
Super Class
autosomal recessive disease severe congenital neutropenia
External Links
Disease Ontology
DOID:0112136
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
68401 G6pc3 glucose 6 phosphatase, catalytic, 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
303565 G6pc3 glucose 6 phosphatase catalytic subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
790919 g6pc3 glucose-6-phosphatase catalytic subunit 3
The Human Phenotype Ontology
Displaying entries 21 - 30 of 50 in total
HPO ID HPO Term
HP:0001510 Growth delay
HP:0001642 Pulmonic stenosis
HP:0001643 Patent ductus arteriosus
HP:0001653 Mitral regurgitation
HP:0001684 Secundum atrial septal defect
HP:0001744 Splenomegaly
HP:0001873 Thrombocytopenia
HP:0001875 Neutropenia
HP:0001882 Leukopenia
HP:0001888 Lymphopenia
Displaying 1 entry
Gene ID Gene Symbol Description
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024