KMIN
MCID: INT258
MIFTS: 44

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 56 73 29 13 6 39 71
Karyomegalic Interstitial Nephritis 12 52 58 15
Kmin 56 12 73
Kin 12 52 58
Karyomegalic Tubulointerstitial Nephritis 73
Systemic Karyomegaly 58
Ktn 73

Characteristics:

Orphanet epidemiological data:

58
karyomegalic interstitial nephritis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of renal failure in adulthood (range twenties to fifties)


HPO:

31
interstitial nephritis, karyomegalic:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0060911
OMIM 56 614817
MeSH 43 D009395
ICD10 32 N11.8
ICD10 via Orphanet 33 N11.8
Orphanet 58 ORPHA401996
UMLS 71 C3553774

Summaries for Interstitial Nephritis, Karyomegalic

UniProtKB/Swiss-Prot : 73 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 i 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 are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. 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 : 56 Karyomegalic tubulointerstitial nephritis (KMIN) 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 36)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group i 31.0 FANCD2 FAN1
2 interstitial nephritis 30.9 TUBA1B MTMR10 FAN1 CAPNS1 A4GALT
3 fanconi anemia, complementation group a 30.2 SLX4 SLX1B SLX1A FANCD2 FAN1 DCLRE1A
4 fanconi anemia, complementation group d2 10.4
5 end stage renal disease 10.4
6 bronchiectasis 10.4
7 interstitial lung disease 10.3
8 lung disease 10.3
9 chromosome 15q13.3 deletion syndrome 10.2 MTMR10 FAN1
10 fanconi anemia, complementation group u 10.2 SLX4 FANCD2
11 fanconi anemia, complementation group v 10.2 SLX4 FANCD2
12 osteogenic sarcoma 10.2
13 small cell carcinoma 10.2
14 renal fibrosis 10.2
15 nephrotic syndrome 10.2
16 nephronophthisis 10.2
17 focal segmental glomerulosclerosis 10.2
18 glomerulonephritis 10.2
19 iga glomerulonephritis 10.2
20 kidney disease 10.2
21 chronic kidney disease 10.2
22 amyloidosis 10.2
23 47,xyy 10.2
24 alect2 amyloidosis 10.2
25 polyploidy 10.2
26 dextro-looped transposition of the great arteries 10.2 EEFSEC C1S
27 fanconi anemia, complementation group r 10.2 SLX4 FANCD2
28 fanconi anemia, complementation group o 10.2 SLX4 FANCD2
29 fanconi anemia, complementation group t 10.1 SLX4 FANCD2
30 familial expansile osteolysis 10.1 TUBA1B SNRNP40 NDUFAF3 C1S
31 fanconi anemia, complementation group n 10.0 SLX4 FANCD2
32 fanconi anemia, complementation group q 10.0 SLX4 SLX1B SLX1A FANCD2
33 fanconi anemia, complementation group p 10.0 SLX4 SLX1B SLX1A FANCD2
34 xeroderma pigmentosum, complementation group f 10.0 SLX4 SLX1B SLX1A FANCD2
35 fanconi anemia, complementation group d1 9.8 SLX4 FANCD2
36 xeroderma pigmentosum, variant type 9.8 SLX4 SLX1B SLX1A FANCD2 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hematuria 31 occasional (7.5%) HP:0000790
2 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
3 proteinuria 31 HP:0000093
4 nephronophthisis 31 HP:0000090
5 tubulointerstitial nephritis 31 HP:0001970
6 glycosuria 31 HP:0003076
7 stage 5 chronic kidney disease 31 HP:0003774
8 elevated serum creatinine 31 HP:0003259
9 increased blood urea nitrogen 31 HP:0003138

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Kidney, Liver, Testes, Heart, Eye, Bone, Brain

Publications for Interstitial Nephritis, Karyomegalic

Articles related to Interstitial Nephritis, Karyomegalic:

(show top 50) (show all 59)
# Title Authors PMID Year
1
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. 6 56
22772369 2012
2
[Karyomegalic interstitial nephritis: A new French case]. 56 6
20621605 2010
3
Karyomegalic interstitial nephritis: a pitfall in urine cytology. 6 56
17304531 2007
4
Karyomegalic tubulointerstitial nephritis--a case report. 56 6
16678356 2006
5
Karyomegalic interstitial nephritis. 6 56
8546134 1996
6
Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. 56 6
7847351 1995
7
Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. 56
16724656 2006
8
Three-Dimensional Surface Reconstruction of the Human Cochlear Nucleus: Implications for Auditory Brain Stem Implant Design. 61
32206528 2020
9
Enhanced photocatalytic and electrochemical performance of TiO2-Fe2O3 nanocomposite: Its applications in dye decolorization and as supercapacitors. 61
31988344 2020
10
Pulmonary manifestations of systemic karyomegaly. 61
32154101 2020
11
The number of k-mer matches between two DNA sequences as a function of k and applications to estimate phylogenetic distances. 61
32040534 2020
12
Randomized clinical trial on the efficacy of intranasal or oral ketamine-midazolam combinations compared to oral midazolam for outpatient pediatric sedation. 61
30856181 2019
13
Five-Year Changes of Anterior Corneal Indices in Diabetics versus Non-Diabetics: The Shahroud Eye Cohort Study. 61
30198787 2019
14
The effect of corneal cross-linking on the anterior and posterior parameters of the cornea: A prospective repeatability study. 61
31198900 2019
15
Long term efficacy and stability of corneal collagen cross linking for post-LASIK ectasia: an average of 80mo follow-up. 61
30809492 2019
16
Corneal Biomechanical Properties in Obstructive Sleep Apnea Syndrome. 61
29420326 2018
17
[The clinical study of corneal cross-linking with preserved corneal epithelial flap in thin keratoconic corneas]. 61
29895115 2018
18
Implantation of intracorneal ring segments in pediatric patients: long-term follow-up. 61
29445305 2018
19
A review and meta-analysis of corneal cross-linking for post-laser vision correction ectasia. 61
28913504 2017
20
Medium- to Long-Term Results of Corneal Cross-Linking for Keratoconus Using Phototherapeutic Keratectomy for Epithelial Removal and Partial Stromal Ablation. 61
28681909 2017
21
Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome. 61
28476049 2017
22
Efficacy of Intrastromal Corneal Ring Segments Combined With Flash Collagen Cross-Linking in Keratoconus. 61
28060059 2017
23
OPD-Scan III: a repeatability and inter-device agreement study of a multifunctional device in emmetropia, ametropia, and keratoconus. 61
26854319 2016
24
Epithelial Thickness Profile Change After Combined Topography-Guided Transepithelial Photorefractive Keratectomy and Corneal Cross-linking in Treatment of Keratoconus. 61
27598733 2016
25
Full-Ring Intracorneal Implantation in Corneas With Pellucid Marginal Degeneration. 61
26756018 2015
26
Age-Related Changes in Corneal Curvature and Shape: The Shahroud Eye Cohort Study. 61
26312623 2015
27
Corneal Collagen Cross-linking for the Treatment of Progressive Corneal Ectasia: 6-Year Prospective Outcome in a French Population. 61
26149969 2015
28
[Transepithelial iontophoresis corneal collagen cross-linking for progressive keratoconus: one year results]. 61
26693653 2015
29
Corneal collagen crosslinking in children with keratoconus. 61
26059667 2015
30
Chromatographic and computational assessment of lipophilicity using sum of ranking differences and generalized pair-correlation. 61
25595531 2015
31
[Corneal collagen cross-linking with riboflavin and ultraviolet-A light in progressive keratoconus. Results after 10-year follow-up]. 61
25134461 2015
32
One-Year Results of Simultaneous Topography-Guided Photorefractive Keratectomy and Corneal Collagen Cross-Linking in Keratoconus Utilizing a Modern Ablation Software. 61
26366293 2015
33
Percolation on interacting networks with feedback-dependency links. 61
25637912 2015
34
[Induced astigmatism after corneal suture removal after cataract surgery]. 61
24559514 2014
35
A descriptive study of ocular characteristics in Marfan syndrome. 61
23387925 2013
36
Silicone hydrogel mini-scleral contact lenses in early stage after corneal collagen cross-linking for keratoconus: a retrospective case series. 61
23506012 2013
37
Subjective ratings and performance in the heat and after sleep deprivation. 61
23855065 2013
38
Epithelium-off corneal collagen cross-linking versus transepithelial cross-linking for pediatric keratoconus. 61
23132450 2013
39
Peak stress intensity factor governs crack propagation velocity in crosslinked ultrahigh-molecular-weight polyethylene. 61
23165898 2013
40
Characterisation of palm empty fruit bunch (PEFB) and pinewood bio-oils and kinetics of their thermal degradation. 61
22297046 2012
41
How well do predators adjust to climate-mediated shifts in prey distribution? A study on Australian water pythons. 61
21608485 2011
42
The influence of model resolution on ozone in industrial volatile organic compound plumes. 61
20863055 2010
43
Effects of multicurve RGP contact lens use on topographic changes in keratoconus. 61
20714382 2010
44
Kernels for generalized multiple-instance learning. 61
18988944 2008
45
Transport and percolation theory in weighted networks. 61
17500947 2007
46
Candiduria in critically ill patients: an early candidemia marker when coupled with multiple blood specimens PCR assays? 61
17523273 2007
47
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. 61
15683656 2005
48
Flap thickness accuracy: comparison of 6 microkeratome models. 61
15130631 2004
49
Ribosome traffic in E. coli and regulation of gene expression. 61
10640436 2000
50
Backbone dynamics of detergent-solubilized alamethicin from amide hydrogen exchange measurements. 61
10350467 1999

Variations for Interstitial Nephritis, Karyomegalic

ClinVar genetic disease variations for Interstitial Nephritis, Karyomegalic:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAN1 NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter)SNV Pathogenic 37094 rs953653119 15:31214505-31214505 15:30922302-30922302
2 FAN1 NM_014967.5(FAN1):c.1234+2T>ASNV Pathogenic 37095 rs767435461 15:31198102-31198102 15:30905899-30905899
3 FAN1 NM_014967.5(FAN1):c.2034_2035GA[1] (p.Arg679fs)short repeat Pathogenic 37096 rs1566921085 15:31212837-31212838 15:30920634-30920635
4 FAN1 NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter)SNV Pathogenic 37097 rs387907279 15:31217402-31217402 15:30925199-30925199
5 FAN1 NM_014967.5(FAN1):c.1375+1G>ASNV Pathogenic 37099 rs1305708707 15:31200462-31200462 15:30908259-30908259
6 FAN1 NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)deletion Pathogenic 37100 rs765970053 15:31221587-31221588 15:30929384-30929385
7 FAN1 NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg)SNV Pathogenic 37101 rs387907280 15:31222767-31222767 15:30930564-30930564
8 FAN1 NM_014967.5(FAN1):c.1102C>T (p.Gln368Ter)SNV Pathogenic 437428 rs778075842 15:31197968-31197968 15:30905765-30905765
9 FAN1 NM_014967.5(FAN1):c.2616del (p.Asp873fs)deletion Pathogenic 437429 rs750056424 15:31221429-31221429 15:30929226-30929226
10 FAN1 NM_014967.5(FAN1):c.1520G>A (p.Arg507His)SNV Conflicting interpretations of pathogenicity 619975 rs150393409 15:31202961-31202961 15:30910758-30910758
11 FAN1 NM_014967.5(FAN1):c.1090A>C (p.Asn364His)SNV Conflicting interpretations of pathogenicity 373299 rs187082481 15:31197956-31197956 15:30905753-30905753

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

73
# 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

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 Slx1-Slx4 complex GO:0033557 8.8 SLX4 SLX1B SLX1A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.93 SLX4 SLX1B SLX1A FANCD2 FAN1 DCLRE1A
2 DNA repair GO:0006281 9.88 SLX4 SLX1B SLX1A FANCD2 FAN1 DCLRE1A
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.78 SLX1B SLX1A FAN1 DCLRE1A
4 double-strand break repair via homologous recombination GO:0000724 9.73 SLX4 SLX1B SLX1A FAN1
5 DNA recombination GO:0006310 9.69 SLX4 SLX1B SLX1A
6 t-circle formation GO:0090656 9.54 SLX4 SLX1B SLX1A
7 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.5 SLX4 SLX1B SLX1A
8 telomere maintenance via telomere lengthening GO:0010833 9.49 SLX1B SLX1A
9 telomeric D-loop disassembly GO:0061820 9.43 SLX4 SLX1B SLX1A
10 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.33 SLX4 SLX1B SLX1A
11 positive regulation of t-circle formation GO:1904431 9.13 SLX4 SLX1B SLX1A
12 interstrand cross-link repair GO:0036297 9.1 SLX4 SLX1B SLX1A FANCD2 FAN1 DCLRE1A

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

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.43 SLX1B SLX1A FAN1
2 endonuclease activity GO:0004519 9.33 SLX1B SLX1A FAN1
3 crossover junction endodeoxyribonuclease activity GO:0008821 9.13 SLX4 SLX1B SLX1A
4 5'-flap endonuclease activity GO:0017108 8.92 SLX4 SLX1B SLX1A 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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