Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nephron morphology (HP:0012575)help
Grandparent Node:
expandAbnormal renal corpuscle morphology (HP:0031263)help
Parent Node:
expandAbnormal renal glomerulus morphology (HP:0000095)help
..Starting node
..expandThickened glomerular basement membrane (HP:0004722)help
Term ID: 4722
Name: Thickened glomerular basement membrane
Synonym:
Definition: Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.
Comments:
Reference: HP:0004722
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal glomerular capillary morphology (HP:0025006) help
..expandAbnormal glomerular mesangium morphology (HP:0001966) help
..expandGlomerular basement membrane lamellation (HP:0030034) help
..expandGlomerular deposits (HP:0030949) help
..expandGlomerular endocapillary hypercellularity (HP:0025363) help
..expandGlomerular extracapillary hypercellularity (HP:0025364) help
..expandGlomerular sclerosis (HP:0000096) help
..expandGlomerulomegaly (HP:0030162) help
..expandGlomerulonephritis (HP:0000099) help
..expandGlomerulopathy (HP:0100820) help
..expandLobular glomerulopathy (HP:0008636) help
..expandMultiple glomerular cysts (HP:0100611) help
..expandRenal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111) help
..expandThin glomerular basement membrane (HP:0012577) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004722HP:0004722Thickened glomerular basement membrane0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0004722HP:0004722Thickened glomerular basement membrane0CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 18.10
HP:0004722HP:0004722Thickened glomerular basement membrane0CFH CL E G H30754883OMIM:609814Complement factor H deficiency.86
HP:0004722HP:0004722Thickened glomerular basement membrane0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0004722HP:0004722Thickened glomerular basement membrane0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0004722HP:0004722Thickened glomerular basement membrane0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0004722HP:0004722Thickened glomerular basement membrane0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0004722HP:0004722Thickened glomerular basement membrane0DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 7.17
HP:0004722HP:0004722Thickened glomerular basement membrane0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia.83
HP:0004722HP:0004722Thickened glomerular basement membrane0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0004722HP:0004722Thickened glomerular basement membrane0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0004722HP:0004722Thickened glomerular basement membrane0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0004722HP:0033286Thickened glomerular basement membranes with electron dense deposits1 CL E G H
HP:0004722HP:0033285Thickened glomerular basement membranes with no electron dense deposits1 CL E G H
HP:0004722HP:0033284Diffusely thickened glomerular basement membrane2 CL E G H
HP:0004722HP:0033283Segmentally thickened glomerular basement membrane2 CL E G H


Genes (11) :CD151 CEP83 CFH COL4A3 COL4A4 COL4A5 DGKE GATA3 LMX1B NOS1AP RNU7-1

Diseases (11) :OMIM:609057 OMIM:615862 OMIM:609814 OMIM:104200 OMIM:203780 OMIM:301050 OMIM:615008 OMIM:146255 ORPHA:2614 OMIM:619155 OMIM:619487
 

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