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
..Impaired T cell function (HP:0005435)

Term ID:

5435

Name:

Impaired T cell function

Synonym:

Impaired T cell function; T-cell dysfunction

Definition:

Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.

Comments:

Reference:

HP:0005435

Genes and Diseases:

Child Nodes:

........

Defective T cell proliferation (HP:0030253)

Sister Nodes:

Abnormal delayed hypersensitivity skin test (HP:0002963)

Abnormal T cell activation (HP:0410035)

Abnormal T cell proliferation (HP:0031379)

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:0005435	HP:0005435	Impaired T cell function	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia	.	19
HP:0005435	HP:0005435	Impaired T cell function	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0005435	HP:0005435	Impaired T cell function	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0005435	HP:0005435	Impaired T cell function	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0005435	HP:0005435	Impaired T cell function	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0005435	HP:0005435	Impaired T cell function	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0005435	HP:0005435	Impaired T cell function	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0005435	HP:0005435	Impaired T cell function	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0005435	HP:0005435	Impaired T cell function	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0005435	HP:0005435	Impaired T cell function	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0005435	HP:0005435	Impaired T cell function	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0005435	HP:0005435	Impaired T cell function	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0005435	HP:0005435	Impaired T cell function	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0005435	HP:0005435	Impaired T cell function	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0005435	HP:0005435	Impaired T cell function	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0005435	HP:0005435	Impaired T cell function	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0005435	HP:0005435	Impaired T cell function	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0005435	HP:0005435	Impaired T cell function	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0005435	HP:0005435	Impaired T cell function	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0005435	HP:0005435	Impaired T cell function	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0005435	HP:0005435	Impaired T cell function	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0005435	HP:0005435	Impaired T cell function	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0005435	HP:0005435	Impaired T cell function	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0005435	HP:0005435	Impaired T cell function	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0005435	HP:0005435	Impaired T cell function	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0005435	HP:0005435	Impaired T cell function	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0005435	HP:0005435	Impaired T cell function	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0005435	HP:0005435	Impaired T cell function	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0005435	HP:0005435	Impaired T cell function	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0005435	HP:0005435	Impaired T cell function	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0005435	HP:0005435	Impaired T cell function	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0005435	HP:0005435	Impaired T cell function	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0005435	HP:0005435	Impaired T cell function	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0005435	HP:0005435	Impaired T cell function	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional	135
HP:0005435	HP:0005435	Impaired T cell function	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0005435	HP:0030253	Defective T cell proliferation	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040283 - Occasional	24
HP:0005435	HP:0030253	Defective T cell proliferation	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0005435	HP:0030253	Defective T cell proliferation	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0005435	HP:0030253	Defective T cell proliferation	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0005435	HP:0030253	Defective T cell proliferation	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0005435	HP:0030253	Defective T cell proliferation	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0005435	HP:0030253	Defective T cell proliferation	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6

Genes (31) :AK2 ARVCF CD19 CD3E COG6 COMT CR2 CTPS1 DGCR2 DGCR6 DGCR8 ESS2 GP1BB HIRA ICOS JMJD1C LIG1 MRTFA PNP RASGRP1 RREB1 SEC24C SLC39A4 SMARCAL1 TBX1 TGFB1 TNFRSF13B TNFRSF13C UFD1 UMPS WIPF1

Diseases (19) :OMIM:267500 ORPHA:567 OMIM:240500 OMIM:615615 OMIM:614576 OMIM:615897 OMIM:192430 OMIM:607594 OMIM:619774 OMIM:618847 OMIM:613179 OMIM:618534 OMIM:201100 ORPHA:1830 OMIM:188400 OMIM:618213 ORPHA:30 OMIM:258900 OMIM:614493

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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