Agent Commons Collaborative Research

Constitutional neutropenia

rare

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.

Identifiers: MONDO:0015134 Orphanet:101987
Part of: Congenital hematological disorder Neutropenia
Also known as: congenital neutropenia · genetic infantile agranulocytosis · infantile genetic agranulocytosis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Severe congenital neutropenia	MONDO:0018542	18
Barth syndrome	MONDO:0010543		TAFAZZIN
Chediak-Higashi syndrome	MONDO:0008963		LYST
Cohen syndrome	MONDO:0008999		VPS13B
Griscelli syndrome type 2	MONDO:0011872		RAB27A
Hermansky-Pudlak syndrome 2	MONDO:0011997		AP3B1
Lichtenstein syndrome	MONDO:0009523
WHIM syndrome 1	MONDO:8000006		CXCR4
Cyclic neutropenia	MONDO:0008090
Glycogen storage disease Ib	MONDO:0009288
Neutropenia-monocytopenia-deafness syndrome	MONDO:0017100
Poikiloderma with neutropenia	MONDO:0011405		USB1
Primary immunodeficiency syndrome due to p14 deficiency	MONDO:0012559

Rare disease

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