Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the immune system (HP:0002715)

Parent Node:
Abnormality of immune system physiology (HP:0010978)

..Starting node
..Immune dysregulation (HP:0002958)

Term ID:

2958

Name:

Immune dysregulation

Synonym:

Immune dysregulation; Unregulated immune response

Definition:

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.

Comments:

Reference:

HP:0002958

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal inflammatory response (HP:0012647)

Abnormal lymphocyte physiology (HP:0031409)

Abnormal lymphocyte surface marker expression (HP:0031383)

Abnormal MHC II surface expression (HP:0031389)

Abnormality of humoral immunity (HP:0005368)

Abnormality of immune serum protein physiology (HP:0011111)

Autoimmunity (HP:0002960)

Chronic infection (HP:0031035)

Immunodeficiency (HP:0002721)

Immunologic hypersensitivity (HP:0100326)

Impaired antigen-specific response (HP:0031404)

Opportunistic infection (HP:0031690)

Recurrent infections (HP:0002719)

Sepsis (HP:0100806)

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:0002958	HP:0002958	Immune dysregulation	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002958	HP:0002958	Immune dysregulation	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0002958	HP:0002958	Immune dysregulation	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52	.	2
HP:0002958	HP:0002958	Immune dysregulation	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0002958	HP:0002958	Immune dysregulation	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0002958	HP:0002958	Immune dysregulation	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0002958	HP:0002958	Immune dysregulation	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0002958	HP:0002958	Immune dysregulation	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0002958	HP:0002958	Immune dysregulation	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0002958	HP:0002958	Immune dysregulation	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0002958	HP:0002958	Immune dysregulation	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002958	HP:0002958	Immune dysregulation	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116

Genes (11) :ACP5 FOXP3 LAT LEPR PLCG2 PRF1 STAT1 STX11 STXBP2 TOM1 UNC13D

Diseases (8) :OMIM:607944 OMIM:304790 OMIM:617514 OMIM:614963 OMIM:614878 ORPHA:540 ORPHA:391487 OMIM:614162

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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