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 immunoglobulin level (HP:0010701)

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

..Starting node
..Paraproteinemia (HP:0031047)

Term ID:

31047

Name:

Paraproteinemia

Synonym:

Monoclonal hypergammaglobulinemia

Definition:

An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.

Comments:

Reference:

HP:0031047

Genes and Diseases:

Child Nodes:

........

Monoclonal immunoglobulin M proteinemia (HP:0005508)

........

Light-chain paraproteinemia (HP:0031048)

........

Heavy-chain paraproteinemia (HP:0031049)

........

Whole-immunoglobulin paraproteinemia (HP:0031050)

Sister Nodes:

Increased alpha-globulin (HP:0005413)

Increased circulating IgA level (HP:0003261)

Increased circulating IgE level (HP:0003212)

Increased circulating IgG level (HP:0003237)

Increased circulating IgM level (HP:0003496)

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:0031047	HP:0031047	Paraproteinemia	0	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma	.	1
HP:0031047	HP:0031047	Paraproteinemia	0	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma	.	88
HP:0031047	HP:0031047	Paraproteinemia	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0031047	HP:0031047	Paraproteinemia	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0031047	HP:0031050	Whole-immunoglobulin paraproteinemia	1	CL E G H
HP:0031047	HP:0031049	Heavy-chain paraproteinemia	1	CL E G H
HP:0031047	HP:0031048	Light-chain paraproteinemia	1	CL E G H
HP:0031047	HP:0005508	Monoclonal immunoglobulin M proteinemia	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0031047	HP:0005508	Monoclonal immunoglobulin M proteinemia	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040281 - Very frequent	9
HP:0031047	HP:0020196	IgM heavy chain paraproteinemia	2	CL E G H
HP:0031047	HP:0020195	IgG heavy chain paraproteinemia	2	CL E G H
HP:0031047	HP:0020194	IgA heavy chain paraproteinemia	2	CL E G H

Genes (3) :CCND1 LIG4 MYD88

Diseases (3) :OMIM:254500 OMIM:153600 ORPHA:33226

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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