Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 immunoglobulin level (HP:0010701)

Parent Node:
Increased circulating antibody level (HP:0010702)

..Starting node
..Increased circulating IgG level (HP:0003237)

Term ID:

3237

Name:

Increased circulating IgG level

Synonym:

Increased IgG level; Increased levels of IgG; Increased total IgG in blood

Definition:

An abnormally increased level of immunoglobulin G in blood.

Comments:

Reference:

HP:0003237

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased alpha-globulin (HP:0005413)

Increased circulating IgA level (HP:0003261)

Increased circulating IgE level (HP:0003212)

Increased circulating IgM level (HP:0003496)

Paraproteinemia (HP:0031047)

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:0003237	HP:0003237	Increased circulating IgG level	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0003237	HP:0003237	Increased circulating IgG level	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0003237	HP:0003237	Increased circulating IgG level	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0003237	HP:0003237	Increased circulating IgG level	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0003237	HP:0003237	Increased circulating IgG level	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0003237	HP:0003237	Increased circulating IgG level	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0003237	HP:0003237	Increased circulating IgG level	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0003237	HP:0003237	Increased circulating IgG level	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0003237	HP:0003237	Increased circulating IgG level	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0003237	HP:0003237	Increased circulating IgG level	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0003237	HP:0003237	Increased circulating IgG level	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0003237	HP:0003237	Increased circulating IgG level	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0003237	HP:0003237	Increased circulating IgG level	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0003237	HP:0003237	Increased circulating IgG level	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040284 - Very rare	48
HP:0003237	HP:0003237	Increased circulating IgG level	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0003237	HP:0003237	Increased circulating IgG level	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003237	HP:0003237	Increased circulating IgG level	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003237	HP:0003237	Increased circulating IgG level	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0003237	HP:0003237	Increased circulating IgG level	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0003237	HP:0003237	Increased circulating IgG level	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0003237	HP:0003237	Increased circulating IgG level	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0003237	HP:0003237	Increased circulating IgG level	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0003237	HP:0003237	Increased circulating IgG level	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003237	HP:0003237	Increased circulating IgG level	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0003237	HP:0003237	Increased circulating IgG level	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0003237	HP:0003237	Increased circulating IgG level	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0003237	HP:0003237	Increased circulating IgG level	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0003237	HP:0003237	Increased circulating IgG level	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003237	HP:0032290	Monoclonal elevation of IgG	1	CL E G H
HP:0003237	HP:0032289	Oligoclonal elevation of circulating IgG	1	CL E G H
HP:0003237	HP:0032288	Polyclonal elevation of circulating IgG	1	CL E G H
HP:0003237	HP:0033039	Increased circulating precipitin level	1	CL E G H
HP:0003237	HP:0032296	Increased circulating IgG subclass	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0003237	HP:0032299	Increased circulating IgG2 level	2	CL E G H
HP:0003237	HP:0032298	Increased circulating IgG1 level	2	CL E G H
HP:0003237	HP:0032293	Monoclonal elevation of IgG heavy chain	2	CL E G H
HP:0003237	HP:0032292	Monoclonal elevation of IgG light chain	2	CL E G H
HP:0003237	HP:0032300	Increased circulating IgG4 level	2	CL E G H
HP:0003237	HP:0032291	Monoclonal elevation of intact IgG	2	CL E G H
HP:0003237	HP:0032297	Increased circulating IgG3 level	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0003237	HP:0032295	Monoclonal elevation of IgG lambda chain	3	CL E G H
HP:0003237	HP:0032294	Monoclonal elevation of IgG kappa chain	3	CL E G H

Genes (23) :CARD10 CASP10 CCND1 CD247 DOCK8 FAS FASLG IFIH1 IFNGR1 IL2RB IL2RG IL7R IPO8 NCKAP1L NLRP1 PGM3 POMP PRKCD PSMB8 RASGRP1 STING1 TGFB1 TPP2

Diseases (23) :OMIM:619632 ORPHA:3261 OMIM:603909 ORPHA:29073 OMIM:610163 OMIM:243700 OMIM:601859 OMIM:619773 OMIM:209950 OMIM:618495 ORPHA:276 ORPHA:169154 OMIM:619472 OMIM:618982 OMIM:617388 OMIM:615816 ORPHA:443811 OMIM:618048 OMIM:256040 OMIM:618534 OMIM:615934 OMIM:618213 OMIM:619220

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen