Congenital nephrotic syndrome, Finnish type

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROTIC SYNDROME, CONGENITAL
CNF
NPHS1
finnish congenital nephrosis
Number of Symptoms 29
OrphanetNr: 839
OMIM Id: 256300
ICD-10: N04
UMLs: C0403399
MeSH: C535761
MedDRA: 10060740
Snomed: 197601003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital and infantile nephrotic syndrome
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
3
 (HPO:0000092) Tubular atrophy 28 / 7739
4
 (HPO:0008677) Congenital nephrotic syndrome 1 / 7739
5
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
6
 (HPO:0000100) Nephrotic syndrome Very frequent [Orphanet] 83 / 7739
7
 (HPO:0001967) Diffuse mesangial sclerosis 11 / 7739
8
 (HPO:0000821) Hypothyroidism 141 / 7739
9
 (HPO:0002021) Pyloric stenosis 51 / 7739
10
 (HPO:0003270) Abdominal distention 46 / 7739
11
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
12
 (HPO:0001510) Growth delay 295 / 7739
13
 (HPO:0001518) Small for gestational age 107 / 7739
14
 (HPO:0000969) Edema 117 / 7739
15
 (HPO:0003073) Hypoalbuminemia 40 / 7739
16
 (HPO:0003077) Hyperlipidemia 37 / 7739
17
 (HPO:0003075) Hypoproteinemia 27 / 7739
18
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
19
 (HPO:0002719) Recurrent infections 107 / 7739
20
 (HPO:0003577) Congenital onset 133 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Interstitial fibrosis 24 / 7739
23
 (OMIM) Loss of podocyte foot processes 2 / 7739
24
 (HPO:0003678) Rapidly progressive 33 / 7739
25
 (OMIM) Biopsy shows dilated proximal tubules 1 / 7739
26
 (OMIM) Proteinuria, severe 1 / 7739
27
 (OMIM) Increased alpha-fetoprotein 5 / 7739
28
 (OMIM) Mesangial cell proliferation 4 / 7739
29
 (OMIM) Glomerulosclerosis and fibrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited ...
Diagnosis OMIM - Prenatal Diagnosis

Seppala et al. (1976) demonstrated that this disorder can be diagnosed antenatally by elevated levels of alpha-fetoprotein (AFP; 104150) in amniotic fluid.

Morris et al. (1995) described congenital Finnish nephrosis in ...
Clinical Description OMIM Ongre (1961) described sibs with nephrosis starting in the neonatal period associated with cystic-like dilation of renal tubules.

In a review of Finnish congenital nephrosis, Tryggvason et al. (2006) noted that affected persons have massive proteinuria ...
Molecular genetics OMIM By use of positional cloning strategies, Kestila et al. (1998) isolated the gene responsible for NPHS1 and identified pathogenic mutations in Finnish patients with congenital nephrosis. The most common Finnish mutation was a deletion of 2 nucleotides in ...
Population genetics OMIM Nephrotic syndrome type 1 has a relatively high frequency in Finland (Norio et al., 1964), where the incidence is about 1 in 8,000 (Norio, 1980). A large series of cases was collected by Hallman and Hjelt (1959) in ...