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

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000126	Hydronephrosis
HP:0000155	Oral ulcer
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000365	Hearing impairment