Tubulointerstitial kidney disease, autosomal dominant, 4

Preferred Label : Tubulointerstitial kidney disease, autosomal dominant, 4;

Symbol : ADTKD4;

CISMeF acronym : HNFJ2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Early-onset hyperuricemia, anemia, and progressive kidney failure; HNFJ2; Hyperuricemic nephropathy, familial juvenile, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the renin gene (REN, 179820.0004);

Prefixed ID : #613092;

Détails

Origin ID

613092;

UMLS CUI

C2751310;

Automatic exact mappings (from CISMeF team)
- REN wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Hyperuricemia, anemia, renal failure syndrome (disorder) [SNOMED CT concept]
- REN-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- hyperuricemic nephropathy, familial juvenile 2 [MeSH concept]
- hyperuricemic nephropathy, familial juvenile 2 [MeSH Supplementary Concept]
DO Cross reference
- familial juvenile hyperuricemic nephropathy [DO Concept]
Genes related to phenotype
- Renin [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hyperuricemia [HPO term]
- Proteinuria [HPO term]
- Renal hypoplasia [HPO term]
- Renal tubular atrophy [HPO term]
- Tubulointerstitial fibrosis [HPO term]
ORDO concept(s)
- REN-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- REN-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- hyperuricemic nephropathy, familial juvenile 2 [MeSH Supplementary Concept]
- hyperuricemic nephropathy, familial juvenile 2 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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