MCID: INT258
MIFTS: 29

Interstitial Nephritis, Karyomegalic

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Interstitial Nephritis, Karyomegalic

MalaCards integrated aliases for Interstitial Nephritis, Karyomegalic:

Name: Interstitial Nephritis, Karyomegalic 57 75 29 13 6 40 73
Karyomegalic Interstitial Nephritis 12 53 59
Kmin 57 12 75
Kin 12 53 59
Karyomegalic Tubulointerstitial Nephritis 75
Systemic Karyomegaly 59
Ktn 75

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:

Orphanet: 59  
Rare renal diseases


Summaries for Interstitial Nephritis, Karyomegalic

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 chromosome 15q13.3 deletion syndrome. An important gene associated with Interstitial Nephritis, Karyomegalic is FAN1 (FANCD2 And FANCI Associated Nuclease 1). Affiliated tissues include kidney, liver and testes, and related phenotypes are proteinuria and elevated hepatic transaminases

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)

Related Diseases for Interstitial Nephritis, Karyomegalic

Diseases related to Interstitial Nephritis, Karyomegalic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 interstitial nephritis 10.3
2 chromosome 15q13.3 deletion syndrome 9.0 FAN1 MTMR10

Symptoms & Phenotypes for Interstitial Nephritis, Karyomegalic

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
glycosuria
increased creatinine
increased bun
abnormal liver function tests (in some patients)
more
Genitourinary Kidneys:
nephronophthisis
chronic renal failure
interstitial fibrosis
end-stage renal disease
atrophic kidneys
more

Clinical features from OMIM:

614817

Human phenotypes related to Interstitial Nephritis, Karyomegalic:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
3 hematuria 32 occasional (7.5%) HP:0000790
4 elevated serum creatinine 32 HP:0003259
5 nephronophthisis 32 HP:0000090
6 glycosuria 32 HP:0003076
7 tubulointerstitial nephritis 32 HP:0001970
8 stage 5 chronic kidney disease 32 HP:0003774
9 increased blood urea nitrogen 32 HP:0003138

Drugs & Therapeutics for Interstitial Nephritis, Karyomegalic

Search Clinical Trials , NIH Clinical Center for Interstitial Nephritis, Karyomegalic

Genetic Tests for Interstitial Nephritis, Karyomegalic

Genetic tests related to Interstitial Nephritis, Karyomegalic:

# Genetic test Affiliating Genes
1 Interstitial Nephritis, Karyomegalic 29 FAN1

Anatomical Context for Interstitial Nephritis, Karyomegalic

MalaCards organs/tissues related to Interstitial Nephritis, Karyomegalic:

41
Kidney, Liver, Testes

Publications for Interstitial Nephritis, Karyomegalic

Articles related to Interstitial Nephritis, Karyomegalic:

(show all 15)
# Title Authors Year
1
Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature. ( 27196444 )
2016
2
Karyomegalic interstitial nephritis. ( 28509177 )
2016
3
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. ( 27026368 )
2016
4
Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice. ( 26980188 )
2016
5
Karyomegalic Interstitial Nephritis with Chronic Kidney Disease. ( 26625552 )
2015
6
Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association. ( 24701046 )
2014
7
Improvement in karyomegalic interstitial nephritis three years after ifosfamide and cisplatin therapy by corticosteroid. ( 28509207 )
2014
8
An uncommon presentation of an uncommon nephropathy: the karyomegalic interstitial nephritis. ( 23553526 )
2013
9
Karyomegalic interstitial nephritis. ( 23831142 )
2013
10
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. ( 22772369 )
2012
11
Genetics: FAN1 mutations result in defective DNA damage repair and karyomegalic interstitial nephritis. ( 22825664 )
2012
12
Karyomegalic interstitial nephritis: a pitfall in urine cytology. ( 17304531 )
2007
13
Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. ( 16724656 )
2006
14
Karyomegalic interstitial nephritis. ( 8546134 )
1996
15
Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. ( 7847351 )
1995

Variations for Interstitial Nephritis, Karyomegalic

UniProtKB/Swiss-Prot genetic disease variations for Interstitial Nephritis, Karyomegalic:

75
# Symbol AA change Variation ID SNP ID
1 FAN1 p.Cys871Arg VAR_068958
2 FAN1 p.Gln929Pro VAR_068959
3 FAN1 p.Gly937Asp VAR_068960
4 FAN1 p.Asp960Asn VAR_068961 rs751703979

ClinVar genetic disease variations for Interstitial Nephritis, Karyomegalic:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAN1 FAN1, TRP707TER single nucleotide variant Pathogenic
2 FAN1 FAN1, IVS2DS, T-A, +2 single nucleotide variant Pathogenic
3 FAN1 FAN1, 2-BP DEL, 2036GA deletion Pathogenic
4 FAN1 NM_014967.4(FAN1): c.2245C> T (p.Arg749Ter) single nucleotide variant Pathogenic rs387907279 GRCh37 Chromosome 15, 31217402: 31217402
5 FAN1 NM_014967.4(FAN1): c.2245C> T (p.Arg749Ter) single nucleotide variant Pathogenic rs387907279 GRCh38 Chromosome 15, 30925199: 30925199
6 FAN1 FAN1, 1-BP DEL, 2616A deletion Pathogenic
7 FAN1 FAN1, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
8 FAN1 FAN1, 2-BP DEL, 2774TT deletion Pathogenic
9 FAN1 NM_014967.4(FAN1): c.2809G> C (p.Gly937Arg) single nucleotide variant Pathogenic rs387907280 GRCh37 Chromosome 15, 31222767: 31222767
10 FAN1 NM_014967.4(FAN1): c.2809G> C (p.Gly937Arg) single nucleotide variant Pathogenic rs387907280 GRCh38 Chromosome 15, 30930564: 30930564
11 FAN1 NM_014967.4(FAN1): c.1102C> T (p.Gln368Ter) single nucleotide variant Pathogenic rs778075842 GRCh37 Chromosome 15, 31197968: 31197968
12 FAN1 NM_014967.4(FAN1): c.1102C> T (p.Gln368Ter) single nucleotide variant Pathogenic rs778075842 GRCh38 Chromosome 15, 30905765: 30905765
13 FAN1 NM_014967.4(FAN1): c.2616delA (p.Asp873Thrfs) deletion Pathogenic rs750056424 GRCh37 Chromosome 15, 31221429: 31221429
14 FAN1 NM_014967.4(FAN1): c.2616delA (p.Asp873Thrfs) deletion Pathogenic rs750056424 GRCh38 Chromosome 15, 30929226: 30929226

Expression for Interstitial Nephritis, Karyomegalic

Search GEO for disease gene expression data for Interstitial Nephritis, Karyomegalic.

Pathways for Interstitial Nephritis, Karyomegalic

GO Terms for Interstitial Nephritis, Karyomegalic

Sources for Interstitial Nephritis, Karyomegalic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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