Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal neutrophil count (HP:0011991)

Parent Node:
Autoimmunity (HP:0002960)

Parent Node:
Neutropenia (HP:0001875)

..Starting node
..Neutropenia in presence of anti-neutropil antibodies (HP:0001904)

Term ID:

1904

Name:

Neutropenia in presence of anti-neutropil antibodies

Synonym:

Autoimmune neutropenia

Definition:

A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.

Comments:

Reference:

HP:0001904

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyclic neutropenia (HP:0040289)

obsolete Congenital neutropenia (HP:0005549)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040281 - Very frequent	5
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	HP:0040283 - Occasional	32
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040282 - Frequent	127
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001904	HP:0001904	Neutropenia in presence of anti-neutropil antibodies	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78

Genes (22) :CASP10 CIITA FAS FASLG FCGR3B FOXP3 ICOS ITCH PGM3 PIK3CG PNP PRKCD RAG1 RASGRP1 RFX5 RFXANK RFXAP SASH3 STAT1 STAT3 TOM1 TPP2

Diseases (16) :ORPHA:3261 OMIM:603909 ORPHA:572 OMIM:601859 ORPHA:464370 ORPHA:37042 OMIM:607594 ORPHA:228426 ORPHA:443811 OMIM:619802 OMIM:613179 ORPHA:231154 OMIM:301082 ORPHA:391487 OMIM:615952 OMIM:619220

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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