Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0728731 (
prematurity
)
7,134
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (
CNF
), which is caused by mutations in the nephrin gene (
NPHS1
). The classical findings include
prematurity
, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of
NPHS1
and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.
...
PMID:Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation. 2571 Dec 61
