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 leukocyte morphology (HP:0001881)

Parent Node:
Abnormal lymphocyte morphology (HP:0004332)

..Starting node
..Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)

Term ID:

3347

Name:

Impaired lymphocyte transformation with phytohemagglutinin

Synonym:

Definition:

Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.

Comments:

Reference:

HP:0003347

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal B cell morphology (HP:0002846)

Abnormal lymphocyte count (HP:0040088)

Abnormal natural killer cell morphology (HP:0012176)

Abnormal T cell morphology (HP:0002843)

Absent microvilli on the surface of peripheral blood lymphocytes (HP:0002971)

Lymphocytosis (HP:0100827)

Lymphopenia (HP:0001888)

Plasmacytosis (HP:0030150)

Vacuolated lymphocytes (HP:0001922)

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:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0003347	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46

Genes (12) :IL2RG JAK3 KLHDC8B MCM10 MGAT2 MYD88 PTPRC RMRP STAT1 TTC7A WAS ZAP70

Diseases (13) :OMIM:300400 OMIM:600802 ORPHA:35078 OMIM:236000 OMIM:619313 ORPHA:79329 OMIM:153600 OMIM:619924 OMIM:250250 OMIM:614162 OMIM:243150 OMIM:301000 OMIM:617006

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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