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:
Abnormal cellular physiology (HP:0011017)

Grandparent Node:
Abnormal lymphocyte physiology (HP:0031409)

Parent Node:
Abnormality of T cell physiology (HP:0011840)

..Starting node
..Abnormal T cell activation (HP:0410035)

Term ID:

410035

Name:

Abnormal T cell activation

Synonym:

Abnormal T lymphocyte activation; Abnormal T-cell activation; Abnormal T-lymphocyte activation

Definition:

Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.

Comments:

Reference:

HP:0410035

Genes and Diseases:

Child Nodes:

........

Decreased T cell activation (HP:0005419)

........

Abnormal CD69 upregulation upon TCR activation (HP:0031267)

................... HP:0031268 Decreased CD69 upregulation upon TCR activation

........

Abnormal CD25 upregulation upon TCR activation (HP:0031269)

................... HP:0031270 Decreased CD25 upregulation upon TCR activation

Sister Nodes:

Abnormal delayed hypersensitivity skin test (HP:0002963)

Abnormal T cell proliferation (HP:0031379)

Impaired T cell function (HP:0005435)

Lack of T cell function (HP:0005354)

obsolete Exaggerated cellular immune processes (HP:0005397)

Oligoclonal T cell expansion (HP:0031430)

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:0410035	HP:0410035	Abnormal T cell activation	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410035	HP:0410035	Abnormal T cell activation	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0410035	HP:0410035	Abnormal T cell activation	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0410035	HP:0410035	Abnormal T cell activation	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0410035	HP:0410035	Abnormal T cell activation	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0410035	HP:0410035	Abnormal T cell activation	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0410035	HP:0410035	Abnormal T cell activation	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0410035	HP:0410035	Abnormal T cell activation	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0410035	HP:0031269	Abnormal CD25 upregulation upon TCR activation	1	CL E G H
HP:0410035	HP:0005419	Decreased T cell activation	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410035	HP:0005419	Decreased T cell activation	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0410035	HP:0005419	Decreased T cell activation	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0410035	HP:0005419	Decreased T cell activation	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0410035	HP:0005419	Decreased T cell activation	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0410035	HP:0005419	Decreased T cell activation	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0410035	HP:0005419	Decreased T cell activation	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0410035	HP:0031267	Abnormal CD69 upregulation upon TCR activation	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0410035	HP:0005419	Decreased T cell activation	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0410035	HP:0031270	Decreased CD25 upregulation upon TCR activation	2	CL E G H
HP:0410035	HP:0031268	Decreased CD69 upregulation upon TCR activation	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17

Genes (8) :CARMIL2 CASP8 CD40LG EPG5 LEP LEPR MAGT1 TGFB1

Diseases (8) :OMIM:618131 OMIM:607271 OMIM:308230 OMIM:242840 ORPHA:66628 ORPHA:179494 OMIM:300853 OMIM:618213

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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