GlyCosmos Portal

severe congenital neutropenia 4

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

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	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
68401	G6pc3	glucose 6 phosphatase, catalytic, 3	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
303565	G6pc3	glucose 6 phosphatase catalytic subunit 3	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
790919	g6pc3	glucose-6-phosphatase catalytic subunit 3	Alliance of Genome Resources

Displaying entries **41 - 50** of 50 in total

« First

‹ Prev

1

2

3

4

5
HPO ID	HPO Term
HP:0003623	Neonatal onset
HP:0004854	Intermittent thrombocytopenia
HP:0009789	Perianal abscess
HP:0010774	Cor triatriatum
HP:0011304	Broad thumb
HP:0012133	Erythroid hypoplasia
HP:0012311	Monocytosis
HP:0012490	Panniculitis
HP:0100525	Urachus fistula
HP:0100806	Sepsis