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 renal glomerulus morphology (HP:0000095)

Grandparent Node:
Nephritis (HP:0000123)

Parent Node:
Glomerulonephritis (HP:0000099)

..Starting node
..Membranoproliferative glomerulonephritis (HP:0000793)

Term ID:

793

Name:

Membranoproliferative glomerulonephritis

Synonym:

Mesangiocapillary glomerulonephritis; MPGN

Definition:

A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity

Comments:

Reference:

HP:0000793

Genes and Diseases:

Child Nodes:

Sister Nodes:

Crescentic glomerulonephritis (HP:0008653)

Membranous nephropathy (HP:0012578)

Minimal change glomerulonephritis (HP:0012579)

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:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	1
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	2
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	3
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000793	HP:0000793	Membranoproliferative glomerulonephritis	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (9) :C1QA C1QB C1QC DNASE2 LMNB2 PGM3 SLC37A4 SOX18 ZNFX1

Diseases (8) :OMIM:613652 OMIM:619858 OMIM:608709 OMIM:615816 ORPHA:443811 OMIM:619525 OMIM:137940 OMIM:619644

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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