KMIN
MCID: INT258
MIFTS: 35
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Interstitial Nephritis, Karyomegalic (KMIN)
Categories:
Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Interstitial Nephritis, Karyomegalic:
Characteristics:Orphanet epidemiological data:59
karyomegalic interstitial nephritis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset of renal failure in adulthood (range twenties to fifties) HPO:32
interstitial nephritis, karyomegalic:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
34
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UniProtKB/Swiss-Prot
:
75
Interstitial nephritis, karyomegalic: A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life.
MalaCards based summary : Interstitial Nephritis, Karyomegalic, also known as karyomegalic interstitial nephritis, is related to interstitial nephritis and chronic kidney failure. An important gene associated with Interstitial Nephritis, Karyomegalic is FAN1 (FANCD2 And FANCI Associated Nuclease 1), and among its related pathways/superpathways is Fanconi anemia pathway. Affiliated tissues include kidney, liver and testes, and related phenotypes are proteinuria and hematuria Disease Ontology : 12 An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has material basis in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. OMIM : 57 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). (614817) |
Diseases related to Interstitial Nephritis, Karyomegalic via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Interstitial Nephritis, Karyomegalic:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614817Human phenotypes related to Interstitial Nephritis, Karyomegalic:32 (show all 9)
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MalaCards organs/tissues related to Interstitial Nephritis, Karyomegalic:41
Kidney,
Liver,
Testes
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Articles related to Interstitial Nephritis, Karyomegalic:(show all 16)
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UniProtKB/Swiss-Prot genetic disease variations for Interstitial Nephritis, Karyomegalic:75
ClinVar genetic disease variations for Interstitial Nephritis, Karyomegalic:6 (show all 14)
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Search
GEO
for disease gene expression data for Interstitial Nephritis, Karyomegalic.
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Biological processes related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:
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