Nephrotic syndrome, type 11

Preferred Label : Nephrotic syndrome, type 11;

Symbol : NPHS11;

CISMeF acronym : NPHS11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 107-kD nucleoporin gene (NUP107, 607617.0001);

Laboratory abnormalities : Proteinuria; Decreased serum albumin; Hypercholesterolemia;

Prefixed ID : #616730;

Details

Origin ID

616730;

UMLS CUI

C4225228;

Currated CISMeF NLP mapping
- nephrotic syndrome type 11 [DO Concept]
DO Cross reference
- nephrotic syndrome type 11 [DO Concept]
Genes related to phenotype
- Nucleoporin, 107-kd [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Delayed speech and language development [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Dilated cardiomyopathy [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypercholesterolemia [HPO term]
- Hypoalbuminemia [HPO term]
- IgA deposition in the glomerulus [HPO term]
- Micrognathia [HPO term]
- Minimal change glomerulonephritis [HPO term]
- Narrow forehead [HPO term]
- Nephrotic syndrome [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Renal tubular atrophy [HPO term]
- Sloping forehead [HPO term]
- Smooth philtrum [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Variable expressivity [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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