Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

Preferred Label : Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;

Symbol : FRTS4;

CISMeF acronym : FRTS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Frts4 with mody;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hepatocyte nuclear factor 4-alpha gene (HNF4A, 600281.0008);

Laboratory abnormalities : Phosphaturia; Hypouricemia; Glycosuria; Aminoaciduria; Calciuria; Low molecular weight proteinuria;

Prefixed ID : #616026;

Details

Origin ID

616026;

UMLS CUI

C4014962;

Currated CISMeF NLP mapping
- Fanconi renotubular syndrome 4 [DO Concept]
DO Cross reference
- Fanconi renotubular syndrome 4 [DO Concept]
Genes related to phenotype
- Hepatocyte nuclear factor 4-alpha [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Glycosuria [HPO term]
- Hepatomegaly [HPO term]
- Hyperphosphaturia [HPO term]
- Hypoglycemia [HPO term]
- Hypophosphatemia [HPO term]
- Hypouricemia [HPO term]
- Large for gestational age [HPO term]
- Metabolic acidosis [HPO term]
- Neonatal onset [HPO term]
- Nephrocalcinosis [HPO term]
- Proteinuria [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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