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:
Decreased circulating antibody level (HP:0004313)

..Starting node
..Panhypogammaglobulinemia (HP:0003139)

Term ID:

3139

Name:

Panhypogammaglobulinemia

Synonym:

Panhypogammaglobulinaemia; Panypogammaglobulinemia

Definition:

A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.

Comments:

Reference:

HP:0003139

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agammaglobulinemia (HP:0004432)

Decreased circulating IgA level (HP:0002720)

Decreased circulating IgE (HP:0005479)

Decreased circulating IgG level (HP:0004315)

Decreased circulating total IgM (HP:0002850)

Dysgammaglobulinemia (HP:0002961)

Transient hypogammaglobulinemia of infancy (HP:0005432)

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:0003139	HP:0003139	Panhypogammaglobulinemia	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040281 - Very frequent	49
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003139	HP:0003139	Panhypogammaglobulinemia	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46

Genes (23) :BTK CARS1 CIITA DCLRE1C ERCC2 ERCC3 GTF2E2 GTF2H5 IGHM IL21R JAK3 MPLKIP RAG1 RAG2 RFX5 RFXANK RFXAP RNF113A SKIC2 SKIC3 SP110 TARS1 ZAP70

Diseases (12) :OMIM:307200 ORPHA:33364 OMIM:209920 ORPHA:572 OMIM:602450 OMIM:601495 OMIM:615207 OMIM:600802 OMIM:601457 ORPHA:84064 ORPHA:79124 OMIM:269840

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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