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:
Lymphopenia (HP:0001888)

Parent Node:
T lymphocytopenia (HP:0005403)

..Starting node
..Decreased proportion of CD4-positive helper T cells (HP:0005407)

Term ID:

5407

Name:

Decreased proportion of CD4-positive helper T cells

Synonym:

Abnormality of CD4+ T cells; CD4 T cell lymphopenia; CD4+ T-cell lymphopenia

Definition:

A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.

Comments:

Reference:

HP:0005407

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased helper T cell proportion (HP:0008165)

Decreased proportion of CD3-positive T cells (HP:0045080)

Decreased proportion of CD8-positive T cells (HP:0005415)

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:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	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:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0005407	HP:0005407	Decreased proportion of CD4-positive helper T cells	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65

Genes (31) :ATM CASP10 CIITA DOCK8 EPG5 EXTL3 FAS FASLG IKBKB IL2RG IL7R ITK IVNS1ABP KNSTRN LCK LEP LEPR MAGT1 MYC NSMCE3 PGM3 PIK3CD PRKCD RASGRP1 RFX5 RFXANK RFXAP SASH3 TOM1 UNC119 WAS

Diseases (24) :OMIM:208900 ORPHA:3261 ORPHA:572 OMIM:243700 OMIM:242840 ORPHA:508533 OMIM:618204 OMIM:312863 ORPHA:276 ORPHA:169154 OMIM:613011 OMIM:618969 ORPHA:221139 OMIM:615758 ORPHA:66628 ORPHA:179494 OMIM:300853 ORPHA:543 OMIM:617241 ORPHA:443811 OMIM:301082 OMIM:619510 OMIM:615518 OMIM:301000

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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