KMIN
MCID: INT258
MIFTS: 40

Interstitial Nephritis, Karyomegalic (KMIN)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Interstitial Nephritis, Karyomegalic

MalaCards integrated aliases for Interstitial Nephritis, Karyomegalic:

Name: Interstitial Nephritis, Karyomegalic 57 74 29 13 6 40 72
Karyomegalic Interstitial Nephritis 12 53 59 15
Kmin 57 12 74
Kin 12 53 59
Karyomegalic Tubulointerstitial Nephritis 74
Systemic Karyomegaly 59
Ktn 74

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:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060911
OMIM 57 614817
MeSH 44 D009395
ICD10 33 N11.8
ICD10 via Orphanet 34 N11.8
Orphanet 59 ORPHA401996
UMLS 72 C3553774

Summaries for Interstitial Nephritis, Karyomegalic

UniProtKB/Swiss-Prot : 74 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 fanconi anemia, complementation group a and interstitial nephritis. 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 hematuria and elevated hepatic transaminase

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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 29.4 SLX4 FAN1 DCLRE1A
2 interstitial nephritis 10.4
3 chronic kidney disease 10.4
4 fanconi anemia, complementation group d2 10.2
5 osteogenic sarcoma 10.2
6 fanconi anemia, complementation group i 10.2
7 renal fibrosis 10.2
8 nephrotic syndrome 10.2
9 nephronophthisis 10.2
10 focal segmental glomerulosclerosis 10.2
11 kidney disease 10.2
12 bronchiectasis 10.2
13 polyploidy 10.2
14 interstitial lung disease 10.1
15 end stage renal failure 10.1
16 lung disease 10.1
17 fanconi anemia, complementation group p 9.7 SLX4 DCLRE1A

Graphical network of the top 20 diseases related to Interstitial Nephritis, Karyomegalic:



Diseases related to Interstitial Nephritis, Karyomegalic

Symptoms & Phenotypes for Interstitial Nephritis, Karyomegalic

Human phenotypes related to Interstitial Nephritis, Karyomegalic:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hematuria 32 occasional (7.5%) HP:0000790
2 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910
3 proteinuria 32 HP:0000093
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

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

GenomeRNAi Phenotypes related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.8 GREM2 RETREG1 SLX4

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, Heart, Eye, Bone

Publications for Interstitial Nephritis, Karyomegalic

Articles related to Interstitial Nephritis, Karyomegalic:

(show top 50) (show all 55)
# Title Authors PMID Year
1
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. 8 71
22772369 2012
2
Karyomegalic interstitial nephritis: a pitfall in urine cytology. 8 71
17304531 2007
3
Karyomegalic tubulointerstitial nephritis--a case report. 8 71
16678356 2006
4
Karyomegalic interstitial nephritis. 8 71
8546134 1996
5
Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. 8 71
7847351 1995
6
[Karyomegalic interstitial nephritis: A new French case]. 71
20621605 2010
7
Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. 8
16724656 2006
8
The effect of corneal cross-linking on the anterior and posterior parameters of the cornea: A prospective repeatability study. 38
31198900 2019
9
Randomized clinical trial on the efficacy of intranasal or oral ketamine-midazolam combinations compared to oral midazolam for outpatient pediatric sedation. 38
30856181 2019
10
Five-Year Changes of Anterior Corneal Indices in Diabetics versus Non-Diabetics: The Shahroud Eye Cohort Study. 38
30198787 2019
11
Long term efficacy and stability of corneal collagen cross linking for post-LASIK ectasia: an average of 80mo follow-up. 38
30809492 2019
12
Corneal Biomechanical Properties in Obstructive Sleep Apnea Syndrome. 38
29420326 2018
13
[The clinical study of corneal cross-linking with preserved corneal epithelial flap in thin keratoconic corneas]. 38
29895115 2018
14
Implantation of intracorneal ring segments in pediatric patients: long-term follow-up. 38
29445305 2018
15
A review and meta-analysis of corneal cross-linking for post-laser vision correction ectasia. 38
28913504 2017
16
Medium- to Long-Term Results of Corneal Cross-Linking for Keratoconus Using Phototherapeutic Keratectomy for Epithelial Removal and Partial Stromal Ablation. 38
28681909 2017
17
Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome. 38
28476049 2017
18
Efficacy of Intrastromal Corneal Ring Segments Combined With Flash Collagen Cross-Linking in Keratoconus. 38
28060059 2017
19
OPD-Scan III: a repeatability and inter-device agreement study of a multifunctional device in emmetropia, ametropia, and keratoconus. 38
26854319 2016
20
Epithelial Thickness Profile Change After Combined Topography-Guided Transepithelial Photorefractive Keratectomy and Corneal Cross-linking in Treatment of Keratoconus. 38
27598733 2016
21
Full-Ring Intracorneal Implantation in Corneas With Pellucid Marginal Degeneration. 38
26756018 2015
22
Age-Related Changes in Corneal Curvature and Shape: The Shahroud Eye Cohort Study. 38
26312623 2015
23
Corneal Collagen Cross-linking for the Treatment of Progressive Corneal Ectasia: 6-Year Prospective Outcome in a French Population. 38
26149969 2015
24
[Transepithelial iontophoresis corneal collagen cross-linking for progressive keratoconus: one year results]. 38
26693653 2015
25
Corneal collagen crosslinking in children with keratoconus. 38
26059667 2015
26
Chromatographic and computational assessment of lipophilicity using sum of ranking differences and generalized pair-correlation. 38
25595531 2015
27
[Corneal collagen cross-linking with riboflavin and ultraviolet-A light in progressive keratoconus. Results after 10-year follow-up]. 38
25134461 2015
28
One-Year Results of Simultaneous Topography-Guided Photorefractive Keratectomy and Corneal Collagen Cross-Linking in Keratoconus Utilizing a Modern Ablation Software. 38
26366293 2015
29
Percolation on interacting networks with feedback-dependency links. 38
25637912 2015
30
[Induced astigmatism after corneal suture removal after cataract surgery]. 38
24559514 2014
31
A descriptive study of ocular characteristics in Marfan syndrome. 38
23387925 2013
32
Silicone hydrogel mini-scleral contact lenses in early stage after corneal collagen cross-linking for keratoconus: a retrospective case series. 38
23506012 2013
33
Subjective ratings and performance in the heat and after sleep deprivation. 38
23855065 2013
34
Epithelium-off corneal collagen cross-linking versus transepithelial cross-linking for pediatric keratoconus. 38
23132450 2013
35
Peak stress intensity factor governs crack propagation velocity in crosslinked ultrahigh-molecular-weight polyethylene. 38
23165898 2013
36
Characterisation of palm empty fruit bunch (PEFB) and pinewood bio-oils and kinetics of their thermal degradation. 38
22297046 2012
37
How well do predators adjust to climate-mediated shifts in prey distribution? A study on Australian water pythons. 38
21608485 2011
38
The influence of model resolution on ozone in industrial volatile organic compound plumes. 38
20863055 2010
39
Effects of multicurve RGP contact lens use on topographic changes in keratoconus. 38
20714382 2010
40
Kernels for generalized multiple-instance learning. 38
18988944 2008
41
Transport and percolation theory in weighted networks. 38
17500947 2007
42
Candiduria in critically ill patients: an early candidemia marker when coupled with multiple blood specimens PCR assays? 38
17523273 2007
43
Influence of the method of blending an antibiotic powder with an acrylic bone cement powder on physical, mechanical, and thermal properties of the cured cement. 38
15683656 2005
44
Flap thickness accuracy: comparison of 6 microkeratome models. 38
15130631 2004
45
Ribosome traffic in E. coli and regulation of gene expression. 38
10640436 2000
46
Backbone dynamics of detergent-solubilized alamethicin from amide hydrogen exchange measurements. 38
10350467 1999
47
Steady-state kinetics of the reduction of coenzyme Q analogs by complex I (NADH:ubiquinone oxidoreductase) in bovine heart mitochondria and submitochondrial particles. 38
8611577 1996
48
The Bateman function revisited: a critical reevaluation of the quantitative expressions to characterize concentrations in the one compartment body model as a function of time with first-order invasion and first-order elimination. 38
7815308 1994
49
Simplified methods for the evaluation of the parameters of the time course of plasma concentration in the one-compartment body model with first-order invasion and first-order drug elimination including methods for ascertaining when such rate constants are equal. 38
8138893 1993
50
Steady-state kinetics of ubiquinol-cytochrome c reductase in bovine heart submitochondrial particles: diffusional effects. 38
8382478 1993

Variations for Interstitial Nephritis, Karyomegalic

ClinVar genetic disease variations for Interstitial Nephritis, Karyomegalic:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FAN1 NM_014967.5(FAN1): c.1102C> T (p.Gln368Ter) single nucleotide variant Pathogenic rs778075842 15:31197968-31197968 15:30905765-30905765
2 FAN1 NM_014967.5(FAN1): c.2616del (p.Asp873fs) deletion Pathogenic rs750056424 15:31221429-31221429 15:30929226-30929226
3 FAN1 NM_014967.5(FAN1): c.2120G> A (p.Trp707Ter) single nucleotide variant Pathogenic 15:31214505-31214505 15:30922302-30922302
4 FAN1 NM_014967.5(FAN1): c.1234+2T> A single nucleotide variant Pathogenic 15:31198102-31198102 15:30905899-30905899
5 FAN1 NM_014967.5(FAN1): c.2034_2035GA[1] (p.Arg679fs) short repeat Pathogenic 15:31212840-31212841 15:30920637-30920638
6 FAN1 NM_014967.5(FAN1): c.2245C> T (p.Arg749Ter) single nucleotide variant Pathogenic rs387907279 15:31217402-31217402 15:30925199-30925199
7 FAN1 NM_014967.5(FAN1): c.1375+1G> A single nucleotide variant Pathogenic 15:31200462-31200462 15:30908259-30908259
8 FAN1 NM_014967.5(FAN1): c.2774_2775del (p.Leu925fs) deletion Pathogenic 15:31221587-31221588 15:30929384-30929385
9 FAN1 NM_014967.5(FAN1): c.2809G> C (p.Gly937Arg) single nucleotide variant Pathogenic rs387907280 15:31222767-31222767 15:30930564-30930564
10 FAN1 NM_014967.5(FAN1): c.1520G> A (p.Arg507His) single nucleotide variant Uncertain significance rs150393409 15:31202961-31202961 15:30910758-30910758
11 FAN1 NM_014967.5(FAN1): c.1090A> C (p.Asn364His) single nucleotide variant Uncertain significance rs187082481 15:31197956-31197956 15:30905753-30905753

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

74
# 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 rs127057121
4 FAN1 p.Asp960Asn VAR_068961 rs751703979

Expression for Interstitial Nephritis, Karyomegalic

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

Pathways for Interstitial Nephritis, Karyomegalic

Pathways related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.77 SLX4 FAN1 DCLRE1A

GO Terms for Interstitial Nephritis, Karyomegalic

Cellular components related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 SLX4 DCLRE1A

Biological processes related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 SLX4 FAN1 DCLRE1A
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.37 FAN1 DCLRE1A
3 DNA repair GO:0006281 9.33 SLX4 FAN1 DCLRE1A
4 double-strand break repair via homologous recombination GO:0000724 9.26 SLX4 FAN1
5 nucleotide-excision repair GO:0006289 8.96 SLX4 FAN1
6 interstrand cross-link repair GO:0036297 8.8 SLX4 FAN1 DCLRE1A

Molecular functions related to Interstitial Nephritis, Karyomegalic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 5'-flap endonuclease activity GO:0017108 8.62 SLX4 FAN1

Sources for Interstitial Nephritis, Karyomegalic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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