Nephrotic syndrome, type 1

Preferred Label : Nephrotic syndrome, type 1;

Symbol : NPHS1;

CISMeF acronym : CNF; NPHS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephrotic syndrome, congenital; Finnish congenital nephrosis; CNF;

Description : 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 steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996). Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998). Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrin gene (NPHS1, 602716.0001);

Laboratory abnormalities : Hyperlipidemia; Hypoalbuminemia;

Prefixed ID : #256300;

Details

Origin ID

256300;

UMLS CUI

C0403399;

Automatic exact mappings (from CISMeF team)
- CNF Regimen [NCIt concept]
- NPHS1 adhesion molecule, nephrin [ORDO Gene]
- NPHS1 adhesion molecule, nephrin [HGNC gene]
- NPHS1 gene [LOINC component]
- Nephrin [NCIt concept]
- cuneiform nucleus [UBERON concept]
Currated CISMeF NLP mapping
- Congenital Finnish nephrosis [ICD-11 More detail]
- Congenital Nephrotic Syndrome [NCIt concept]
- Congenital nephrotic syndrome [HPO term]
- Congenital nephrotic syndrome [MedDRA Preferred Term]
- Congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Congenital nephrotic syndrome - finnish type [MedDRA LLT]
- Congenital nephrotic syndrome, Finnish type [ORDO Disease]
- Finnish congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Nephrotic Syndrome - NPHS1 Associated [NCIt concept]
- congenital nephrotic syndrome [SNOMED Notion]
- nephrosis, congenital [MeSH Supplementary Concept]
- nephrosis, congenital [MeSH concept]
- nephrotic syndrome type 1 [Disease (Nov.)]
- nephrotic syndrome type 1 [DO Concept]
- nephrotic syndrome, type 1 [MeSH concept]
DO Cross reference
- nephrotic syndrome type 1 [DO Concept]
False automatic mappings
- NPHS1 wt Allele [NCIt concept]
Genes related to phenotype
- Nephrin [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital nephrotic syndrome [HPO term]
- Congenital onset [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Edema [HPO term]
- Gastroesophageal reflux [HPO term]
- Glomerular sclerosis [HPO term]
- Growth delay [HPO term]
- Hyperlipidemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoproteinemia [HPO term]
- Hypothyroidism [HPO term]
- Neonatal respiratory distress [HPO term]
- Proteinuria [HPO term]
- Pyloric stenosis [HPO term]
- Rapidly progressive [HPO term]
- Recurrent infections [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Congenital nephrotic syndrome, Finnish type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital nephrotic syndrome - finnish type [MedDRA LLT]
- Congenital nephrotic syndrome, Finnish type [ORDO Disease]
- Finnish congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Nephrotic Syndrome - NPHS1 Associated [NCIt concept]
- nephrotic syndrome type 1 [DO Concept]
- nephrotic syndrome, type 1 [MeSH concept]
Validated automatic mappings to NTBT
- familial nephrotic syndrome [DO Concept]

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