Interstitial Nephritis, Karyomegalic; Kmin

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Interstitial Nephritis, Karyomegalic; Kmin

  • Pica
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Pneumonia
  • Recurrent infections
  • Elevated hepatic transaminase
  • Proteinuria
  • Respiratory tract infection
  • Carcinoma
And another 14 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Interstitial Nephritis, Karyomegalic; Kmin Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAN1
Specificity
100 %
Genes
100 %
Nephronophthisis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Nephronophthisis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Nephronophthisis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Interstitial nephritis, karyomegalic.

By Institute of Human Genetics Cologne University in Germany.

FAN1
Specificity
100 %
Genes
100 %
Interstitial nephritis karyomegalic.

By Centogene AG - the Rare Disease Company in Germany.

FAN1
Specificity
100 %
Genes
100 %
Nephronophthisis Panel.

By CeGaT GmbH in Germany.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, DCDC2, WDR19, TTC21B, NEK8, GLIS2, CEP164, ZNF423, CEP83, ANKS6, FAN1, SLC41A1
Specificity
6 %
Genes
100 %
FAN1.

By Fulgent Genetics Fulgent Genetics in United States.

FAN1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %

Alternate names

Interstitial Nephritis, Karyomegalic; Kmin Is also known as ;kin; systemic karyomegaly.


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