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:
Abnormal immunoglobulin level (HP:0010701)

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

..Starting node
..Increased alpha-globulin (HP:0005413)

Term ID:

5413

Name:

Increased alpha-globulin

Synonym:

Definition:

An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.

Comments:

Reference:

HP:0005413

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating IgA level (HP:0003261)

Increased circulating IgE level (HP:0003212)

Increased circulating IgG level (HP:0003237)

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:0005413	HP:0005413	Increased alpha-globulin	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104

Genes (1) :ALB

Diseases (1) :ORPHA:86816

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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