Immunoglobulin-mediated membranoproliferative glomerulonephritis

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 7, INCLUDED
AHUS7, INCLUDED
NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED
NPHS7
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
Ig-mediated MPGN
Number of Symptoms 21
OrphanetNr: 329903
OMIM Id: 615008
ICD-10:
UMLs: C0268742
C1720821
MeSH:
MedDRA:
Snomed: 75888001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary membranoproliferative glomerulonephritis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0005575) Hemolytic-uremic syndrome rare [HPO:skoehler] 11 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0001919) Acute kidney injury 21 / 7739
4
(HPO:0000093) Proteinuria 169 / 7739
5
(HPO:0004722) Thickening of the glomerular basement membrane 12 / 7739
6
(HPO:0003774) Stage 5 chronic kidney disease rare [HPO:skoehler] 78 / 7739
7
(HPO:0001878) Hemolytic anemia rare [HPO:skoehler] 83 / 7739
8
(HPO:0001873) Thrombocytopenia rare [HPO:skoehler] 224 / 7739
9
(OMIM) Focal capillary obliteration 2 / 7739
10
(OMIM) Subendothelial deposits 2 / 7739
11
(OMIM) Patchy deposition of IgG and IgM 2 / 7739
12
(OMIM) Swelling of endothelial cells 2 / 7739
13
(OMIM) Normal serum complement levels 2 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Low serum albumin 3 / 7739
16
(OMIM) Splitting of the basement membrane 2 / 7739
17
(OMIM) Effacement of podocyte foot processes 3 / 7739
18
(OMIM) Membranoproliferative glomerulonephritis seen on biopsy 2 / 7739
19
(OMIM) Chronic thrombotic microangiopathy 2 / 7739
20
(HPO:0003676) Progressive disorder 148 / 7739
21
(OMIM) Mesangial cell proliferation 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several ...
Clinical Description OMIM Ozaltin et al. (2013) reported 9 patients from 3 unrelated consanguineous families with onset of progressive clinical nephrotic syndrome in early childhood. Renal biopsy in all cases showed glomerular injury with membranoproliferative glomerulonephritis (MPGN). Most had onset in ...
Molecular genetics OMIM By homozygosity mapping combined with whole-exome analysis of a consanguineous family with early-onset nephrotic syndrome and MPGN, Ozaltin et al. (2013) identified a homozygous truncating mutation in the DGKE gene (Q43X; 601440.0001). Sequencing of this gene in 142 ...