Human Phenotype
Ontology
Grandparent Node: Abnormal T cell subset distribution (HP:0025540) Parent Node: Abnormal proportion of double-negative alpha-beta regulatory T cell (HP:0031399) ..Starting node Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells (HP:0002851)
Term ID: 2851
Name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Synonym: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
Definition: An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
Comments:
Reference: HP:0002851
Genes and Diseases: Child Nodes: Sister Nodes: ..Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells (HP:0031401) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 CASP10 CL E G H 843 1500 ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040282 - Frequent 87 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 CASP10 CL E G H 843 1500 OMIM:603909 Autoimmune lymphoproliferative syndrome, type IIA 87 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 FAS CL E G H 355 11920 ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040282 - Frequent 59 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 FAS CL E G H 355 11920 OMIM:601859 Autoimmune lymphoproliferative syndrome . 59 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 FASLG CL E G H 356 11936 ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040282 - Frequent 37 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 FASLG CL E G H 356 11936 OMIM:601859 Autoimmune lymphoproliferative syndrome . 37 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 PIK3CG CL E G H 5294 8978 OMIM:619802 IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 2 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 PRKCD CL E G H 5580 9399 ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040282 - Frequent 10 HP:0002851 HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0 RASGRP1 CL E G H 10125 9878 ORPHA:3261 Autoimmune lymphoproliferative syndrome HP:0040282 - Frequent
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
