IllnessGlomerulonephritis, focal segmental; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for focal segmental glomerulonephritis comprising 8 and altogether 36 curated genes according to the clinical signs

GP9685

Number of genes

13 Accredited laboratory test

Examined sequence length

23,1 kb (Core-/Core-canditate-Genes)
37,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
ACTN4	2736	604638	AD
ANLN	3375	616027	AD
CD2AP	1920	604241	n.k.
CRB2	3858	609720	AR
INF2	3750	610982	AD
MYO1E	3327	601479	AR
PAX2	1254	167409	AD
TRPC6	2796	603652	AD
APOL1	1197	603743	AR
NPHS1	3726	602716	AR
NPHS2	1152	604766	AR
PLCE1	6909	608414	AR
WT1	1569	607102	AD

Informations about the disease

Clinical Comment

A pathologic finding in several renal disorders manifesting clinically as proteinuria + progressive renal dysfunction. Some patients develop nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, edema. FSGS patients may have proteinuria in the nephrotic range without other features of nephrotic syndrome.

Synonyms

Allelic: Brain small vessel disease 2 (COL4A2)
Allelic: Cystinosis, ocular nonnephropathic (CTNS)
Allelic: Deafness, XL 6 (COL4A6)
Allelic: Denys-Drash syndrome (WT1)
Allelic: Fabry disease, cardiac variant (GLA)
Allelic: Frasier syndrome (WT1)
Allelic: Meacham syndrome (WT1)
Allelic: Mesothelioma, somatic (WT1)
Allelic: Nail-patella syndrome (LMX1B)
Allelic: Ovarian dysgenesis 6 (NUP107)
Allelic: Palmoplantar keratoderma woolly hair (KANK2)
Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
Allelic: Wilms tumor, type 1 (WT1)
Alport syndrome 1, XL (COL4A5)
Alport syndrome 2, AR (COL4A3, COL4A4)
Alport syndrome 3, AD (COL4A3)
Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
Cystinosis, atypical nephropathic (CTNS)
Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
Cystinosis, nephropathic (CTNS)
Fabry disease (GLA)
Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
Focal segmental glomerulosclerosis 10 (LMX1B)
Focal segmental glomerulosclerosis 8 (ANLN)
Focal segmental glomerulosclerosis 9 (CRB2)
Galloway-Mowat syndrome 7 (NUP107)
Glomerulosclerosis, focal segmental 1 (ACTN4)
Glomerulosclerosis, focal segmental 2 (TRPC6)
Glomerulosclerosis, focal segmental 3 (CD2AP)
Glomerulosclerosis, focal segmental 4, susceptibility to (APOL1)
Glomerulosclerosis, focal segmental 5 (INF2)
Glomerulosclerosis, focal segmental 6 (MYO1E)
Glomerulosclerosis, focal segmental 7 (PAX2)
Hematuria, benign familial (COL4A3, COL4A4)
Nephronophthisis 12 (TTC21B)
Nephrotic syndrome, type 1 (NPHS1)
Nephrotic syndrome, type 10 (EMP2)
Nephrotic syndrome, type 11 (NUP107)
Nephrotic syndrome, type 12 (NUP93)
Nephrotic syndrome, type 13 (NUP205)
Nephrotic syndrome, type 15 (MAGI2)
Nephrotic syndrome, type 16 (KANK2)
Nephrotic syndrome, type 2 (NPHS2)
Nephrotic syndrome, type 3 (PLCE1)
Nephrotic syndrome, type 4 (WT1)
Nephrotic syndrome, type 6 (PTPRO)
Nephrotic syndrome, type 8 (ARHGDIA)

Heredity, heredity patterns etc.

AD
AR
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

N04.1

Bioinformatics and clinical interpretation

No text defined