Interstitial nephritis, karyomegalic

Preferred Label : Interstitial nephritis, karyomegalic;

Symbol : KMIN;

CISMeF acronym : KMIN;

Type : Phenotype, molecular basis known;

Description : Karyomegalic tubulointerstitial nephritis (KTN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by Baba et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FANCD2/FANCI-associated nuclease 1 gene (FAN1, 613534.0001);

Laboratory abnormalities : Proteinuria; Glycosuria; Increased BUN; Increased creatinine; Abnormal liver function tests (in some patients); Hematuria (less common); Karyomegaly may be found in other visceral organs;

Prefixed ID : #614817;

Details

Origin ID

614817;

UMLS CUI

C3553774;

Automatic exact mappings (from CISMeF team)
- FAN1 wt Allele [NCIt concept]
- Karyomegalic Interstitial Nephritis [NCIt concept]
- Late-onset nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
Currated CISMeF NLP mapping
- Karyomegalic interstitial nephritis [ORDO Disease]
- Karyomegalic interstitial nephritis (disorder) [SNOMED CT concept]
- karyomegalic interstitial nephritis [DO Concept]
DO Cross reference
- karyomegalic interstitial nephritis [DO Concept]
Genes related to phenotype
- Fancd2/fanci-associated nuclease 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Glycosuria [HPO term]
- Hematuria [HPO term]
- Increased blood urea nitrogen [HPO term]
- Nephronophthisis [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tubulointerstitial nephritis [HPO term]
ORDO concept(s)
- Karyomegalic interstitial nephritis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyomegalic Interstitial Nephritis [NCIt concept]
- Karyomegalic interstitial nephritis [ORDO Disease]
- Karyomegalic interstitial nephritis (disorder) [SNOMED CT concept]
- karyomegalic interstitial nephritis [DO Concept]

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