Nephrotic syndrome, type 17

Preferred Label : Nephrotic syndrome, type 17;

Symbol : NPHS17;

CISMeF acronym : NPHS17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nucleoporin, 85-kD gene (NUP85, 170285.0001);

Laboratory abnormalities : Microscopic hematuria; Proteinuria;

Prefixed ID : #618176;

Details

Origin ID

618176;

UMLS CUI

C4748545;

Currated CISMeF NLP mapping
- nephrotic syndrome type 17 [DO Concept]
DO Cross reference
- nephrotic syndrome type 17 [DO Concept]
Genes related to phenotype
- Nucleoporin, 85-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Microscopic hematuria [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Short stature [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Steroid-resistant nephrotic syndrome [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients