FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6
FSGS6
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614131
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000100) Nephrotic syndrome 83 / 7739
2
(HPO:0012622) Chronic kidney disease 32 / 7739
3
(HPO:0000790) Hematuria 106 / 7739
4
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
5
(HPO:0000093) Proteinuria 169 / 7739
6
(HPO:0000092) Tubular atrophy 28 / 7739
7
(HPO:0000969) Edema 117 / 7739
8
(HPO:0003073) Hypoalbuminemia 40 / 7739
9
(OMIM) Mesangial hyperplasia 1 / 7739
10
(OMIM) Thickening and disorganization of the glomerular basement membrane 1 / 7739
11
(OMIM) Complement component deposits 1 / 7739
12
(HPO:0003676) Progressive disorder 148 / 7739
13
(OMIM) Antibody deposits 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Electron microscopy shows foot-process effacement 1 / 7739
16
(OMIM) Podocytes show microvillous transformation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele ...
Clinical Description OMIM Mele et al. (2011) reported an 18-year-old Italian girl, born of consanguineous parents, who presented at age 9 years with nephrotic-range proteinuria, microhematuria, hypoalbuminemia, and edema. Renal biopsy showed 30% of glomeruli with segmental sclerohyalinosis with capsular crescents ...
Molecular genetics OMIM By genomewide linkage analysis followed by high-throughput sequencing of a consanguineous Italian family with FSGS6, Mele et al. (2011) identified a homozygous mutation in the MYO1E gene (A159P; 601479.0001) on chromosome 15q21. Sequencing of the MYO1E gene in ...