CNF
MCID: CNG116
MIFTS: 18

Congenital Nephrotic Syndrome Finnish Type (CNF)

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

MalaCards integrated aliases for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 54
Nephrosis 1, Congenital, Finnish Type 54
Finnish Congenital Nephrotic Syndrome 74
Congenital Nephrotic Syndrome 1 54
Finnish Congenital Nephrosis 54
Nephrosis, Congenital 54
Nphs1 54
Cnf 54

Classifications:



External Ids:

UMLS 74 C0403399

Summaries for Congenital Nephrotic Syndrome Finnish Type

NIH Rare Diseases : 54 Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner. At this time, kidney transplantation seems to be the only treatment available for this condition.

MalaCards based summary : Congenital Nephrotic Syndrome Finnish Type, also known as nephrosis 1, congenital, finnish type, is related to focal segmental glomerulosclerosis 1 and nephrotic syndrome, type 6, and has symptoms including edema An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (NPHS1 Adhesion Molecule, Nephrin). Affiliated tissues include kidney.

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

Diseases related to Congenital Nephrotic Syndrome Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 1 11.9
2 nephrotic syndrome, type 6 11.7
3 focal segmental glomerulosclerosis 11.7
4 membranous nephropathy 11.5
5 glomerulonephritis 11.5
6 iga glomerulonephritis 11.5
7 familial nephrotic syndrome 11.5
8 athetosis 11.4
9 nephrotic syndrome, type 1 11.3
10 kidney disease 11.2
11 diabetes mellitus, noninsulin-dependent 11.2
12 frasier syndrome 11.2
13 denys-drash syndrome 11.2
14 end stage renal failure 11.2
15 galloway-mowat syndrome 11.2
16 lipoid nephrosis 11.2
17 nephrosclerosis 11.2
18 membranoproliferative glomerulonephritis 11.2
19 hypoparathyroidism, sensorineural deafness, and renal disease 11.1
20 microvascular complications of diabetes 3 11.1
21 atrial septal defect 3 11.1
22 analbuminemia 11.1
23 chronic kidney failure 11.1
24 dyskinetic cerebral palsy 11.1
25 acute proliferative glomerulonephritis 11.1
26 urinary system disease 11.1
27 kidney hypertrophy 11.1
28 diffuse mesangial sclerosis 11.1
29 nephrotic syndrome, type 4 11.0
30 nephrotic syndrome, type 2 11.0
31 nephrotic syndrome, type 3 11.0
32 nephrotic syndrome, type 5, with or without ocular abnormalities 11.0
33 coenzyme q10 deficiency, primary, 6 11.0
34 nephrotic syndrome, type 7 11.0
35 nephrotic syndrome, type 9 11.0
36 nephrotic syndrome, type 11 11.0
37 nephrotic syndrome, type 12 11.0
38 nephrotic syndrome, type 14 11.0
39 nephrotic syndrome, type 15 11.0
40 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.9
41 nephrotic syndrome 10.4
42 breast cancer 10.2
43 dystonia 10.0
44 amyloidosis 10.0
45 sudden infant death syndrome 10.0
46 indolent systemic mastocytosis 10.0
47 fasciitis 10.0
48 necrotizing fasciitis 10.0
49 isolated optic neuritis 10.0

Graphical network of the top 20 diseases related to Congenital Nephrotic Syndrome Finnish Type:



Diseases related to Congenital Nephrotic Syndrome Finnish Type

Symptoms & Phenotypes for Congenital Nephrotic Syndrome Finnish Type

UMLS symptoms related to Congenital Nephrotic Syndrome Finnish Type:


edema

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

Search Clinical Trials , NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

42
Kidney

Publications for Congenital Nephrotic Syndrome Finnish Type

Articles related to Congenital Nephrotic Syndrome Finnish Type:

# Title Authors Year
1
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type. ( 19309778 )
2009
2
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type. ( 18846635 )
2008
3
Congenital nephrotic syndrome, Finnish type: sonographic appearance and pathologic correlation. ( 14606567 )
2003
4
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. ( 10577936 )
1999
5
Congenital nephrotic syndrome (Finnish type). ( 2992230 )
1985
6
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. ( 6207521 )
1984

Variations for Congenital Nephrotic Syndrome Finnish Type

Expression for Congenital Nephrotic Syndrome Finnish Type

Search GEO for disease gene expression data for Congenital Nephrotic Syndrome Finnish Type.

Pathways for Congenital Nephrotic Syndrome Finnish Type

GO Terms for Congenital Nephrotic Syndrome Finnish Type

Sources for Congenital Nephrotic Syndrome Finnish Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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