KMIN
MCID: INT258
MIFTS: 45

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 72 29 13 6 39 70
Karyomegalic Interstitial Nephritis 12 20 58 15
Kmin 57 12 72
Kin 12 20 58
Karyomegalic Tubulointerstitial Nephritis 72
Systemic Karyomegaly 58
Ktn 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 614817
MeSH 44 D009395
ICD10 32 N11.8
ICD10 via Orphanet 33 N11.8
Orphanet 58 ORPHA401996
UMLS 70 C3553774

Summaries for Interstitial Nephritis, Karyomegalic

UniProtKB/Swiss-Prot : 72 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 fanconi anemia, complementation group a. 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 eye, and related phenotypes are elevated hepatic transaminase 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 (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) (Updated 05-Apr-2021)

Related Diseases for Interstitial Nephritis, Karyomegalic

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group i 30.6 FANCI FANCD2 FAN1 FAAP20
2 fanconi anemia, complementation group a 30.0 SLX4 SLX1B SLX1A MUS81 FANCI FANCD2
3 interstitial nephritis 10.8
4 proteinuria, chronic benign 10.5
5 chronic kidney disease 10.4
6 fanconi anemia, complementation group d2 10.3
7 end stage renal disease 10.3
8 bronchiectasis 10.3
9 fanconi anemia, complementation group u 10.2 SLX4 FANCI FANCD2
10 fanconi anemia, complementation group v 10.2 SLX4 FANCI FANCD2
11 fanconi anemia, complementation group r 10.2 SLX4 FANCI FANCD2
12 fanconi anemia, complementation group o 10.2 SLX4 FANCI FANCD2
13 fanconi anemia, complementation group n 10.2 SLX4 FANCI FANCD2
14 fanconi anemia, complementation group d1 10.2 SLX4 FANCI FANCD2
15 fanconi anemia, complementation group l 10.2 FANCI FANCD2
16 chromosome 15q13.3 deletion syndrome 10.2 MTMR10 FAN1
17 interstitial lung disease 10.2
18 lung disease 10.2
19 familial expansile osteolysis 10.2 VASP NDUFAF3 AP4M1
20 fanconi anemia, complementation group j 10.2 SLX4 FANCI FANCD2
21 ivic syndrome 10.2 RTP2 RTP1
22 xeroderma pigmentosum, complementation group g 10.1 SLX4 SLX1B SLX1A MUS81
23 osteogenic sarcoma 10.1
24 small cell carcinoma 10.1
25 renal fibrosis 10.1
26 nephrotic syndrome 10.1
27 nephronophthisis 10.1
28 focal segmental glomerulosclerosis 10.1
29 glomerulonephritis 10.1
30 iga glomerulonephritis 10.1
31 kidney disease 10.1
32 amyloidosis 10.1
33 alect2 amyloidosis 10.1
34 polyploidy 10.1
35 fanconi anemia, complementation group t 10.1 SLX4 FANCI FANCD2 FAAP20
36 fanconi anemia, complementation group q 10.1 SLX4 SLX1B SLX1A FANCI FANCD2
37 fanconi anemia, complementation group p 10.1 SLX4 SLX1B SLX1A FANCI FANCD2
38 esophageal atresia 10.1 FANCI FANCD2 FAAP20
39 xeroderma pigmentosum, complementation group f 10.1 SLX4 SLX1B SLX1A MUS81 FANCD2
40 seckel syndrome 10.0 SLX1B SLX1A MUS81 FANCI FANCD2
41 spastic paraplegia 47, autosomal recessive 10.0 DCLRE1B AP4M1
42 xeroderma pigmentosum, variant type 9.9 SLX4 SLX1B SLX1A MUS81 FANCI FANCD2

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 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
2 hematuria 31 occasional (7.5%) HP:0000790
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®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
proteinuria
glycosuria
increased creatinine
increased bun
abnormal liver function tests (in some patients)
more
Genitourinary Kidneys:
nephronophthisis
glomerular sclerosis
chronic renal failure
interstitial fibrosis
end-stage renal disease
more

Clinical features from OMIM®:

614817 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 DCLRE1A FANCD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 DCLRE1A FANCD2 MUS81
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 DCLRE1A DCLRE1B FAN1 FANCD2 FANCI MUS81

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, Eye, Brain

Publications for Interstitial Nephritis, Karyomegalic

Articles related to Interstitial Nephritis, Karyomegalic:

(show top 50) (show all 61)
# Title Authors PMID Year
1
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. 6 57
22772369 2012
2
[Karyomegalic interstitial nephritis: A new French case]. 6 57
20621605 2010
3
Karyomegalic interstitial nephritis: a pitfall in urine cytology. 6 57
17304531 2007
4
Karyomegalic tubulointerstitial nephritis--a case report. 6 57
16678356 2006
5
Karyomegalic interstitial nephritis. 57 6
8546134 1996
6
Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. 6 57
7847351 1995
7
Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. 57
16724656 2006
8
Efficacy and Safety of Accelerated Corneal Cross-linking for Progressive Keratoconus: A 5-Year Follow-up Study. 61
33170279 2020
9
Evaluation of safety and efficacy of different protocols of collagen cross linking for keratoconus. 61
32685782 2020
10
Three-Dimensional Surface Reconstruction of the Human Cochlear Nucleus: Implications for Auditory Brain Stem Implant Design. 61
32206528 2020
11
Enhanced photocatalytic and electrochemical performance of TiO2-Fe2O3 nanocomposite: Its applications in dye decolorization and as supercapacitors. 61
31988344 2020
12
Pulmonary manifestations of systemic karyomegaly. 61
32154101 2020
13
The number of k-mer matches between two DNA sequences as a function of k and applications to estimate phylogenetic distances. 61
32040534 2020
14
Five-Year Changes of Anterior Corneal Indices in Diabetics versus Non-Diabetics: The Shahroud Eye Cohort Study. 61
30198787 2019
15
Randomized clinical trial on the efficacy of intranasal or oral ketamine-midazolam combinations compared to oral midazolam for outpatient pediatric sedation. 61
30856181 2019
16
Long term efficacy and stability of corneal collagen cross linking for post-LASIK ectasia: an average of 80mo follow-up. 61
30809492 2019
17
The effect of corneal cross-linking on the anterior and posterior parameters of the cornea: A prospective repeatability study. 61
31198900 2019
18
Corneal Biomechanical Properties in Obstructive Sleep Apnea Syndrome. 61
29420326 2018
19
[The clinical study of corneal cross-linking with preserved corneal epithelial flap in thin keratoconic corneas]. 61
29895115 2018
20
Implantation of intracorneal ring segments in pediatric patients: long-term follow-up. 61
29445305 2018
21
A review and meta-analysis of corneal cross-linking for post-laser vision correction ectasia. 61
28913504 2017
22
Medium- to Long-Term Results of Corneal Cross-Linking for Keratoconus Using Phototherapeutic Keratectomy for Epithelial Removal and Partial Stromal Ablation. 61
28681909 2017
23
Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome. 61
28476049 2017
24
Efficacy of Intrastromal Corneal Ring Segments Combined With Flash Collagen Cross-Linking in Keratoconus. 61
28060059 2017
25
OPD-Scan III: a repeatability and inter-device agreement study of a multifunctional device in emmetropia, ametropia, and keratoconus. 61
26854319 2016
26
Epithelial Thickness Profile Change After Combined Topography-Guided Transepithelial Photorefractive Keratectomy and Corneal Cross-linking in Treatment of Keratoconus. 61
27598733 2016
27
Full-Ring Intracorneal Implantation in Corneas With Pellucid Marginal Degeneration. 61
26756018 2015
28
Age-Related Changes in Corneal Curvature and Shape: The Shahroud Eye Cohort Study. 61
26312623 2015
29
Corneal Collagen Cross-linking for the Treatment of Progressive Corneal Ectasia: 6-Year Prospective Outcome in a French Population. 61
26149969 2015
30
[Transepithelial iontophoresis corneal collagen cross-linking for progressive keratoconus: one year results]. 61
26693653 2015
31
Corneal collagen crosslinking in children with keratoconus. 61
26059667 2015
32
[Corneal collagen cross-linking with riboflavin and ultraviolet-A light in progressive keratoconus. Results after 10-year follow-up]. 61
25134461 2015
33
Chromatographic and computational assessment of lipophilicity using sum of ranking differences and generalized pair-correlation. 61
25595531 2015
34
Percolation on interacting networks with feedback-dependency links. 61
25637912 2015
35
One-Year Results of Simultaneous Topography-Guided Photorefractive Keratectomy and Corneal Collagen Cross-Linking in Keratoconus Utilizing a Modern Ablation Software. 61
26366293 2015
36
[Induced astigmatism after corneal suture removal after cataract surgery]. 61
24559514 2014
37
A descriptive study of ocular characteristics in Marfan syndrome. 61
23387925 2013
38
Silicone hydrogel mini-scleral contact lenses in early stage after corneal collagen cross-linking for keratoconus: a retrospective case series. 61
23506012 2013
39
Subjective ratings and performance in the heat and after sleep deprivation. 61
23855065 2013
40
Epithelium-off corneal collagen cross-linking versus transepithelial cross-linking for pediatric keratoconus. 61
23132450 2013
41
Peak stress intensity factor governs crack propagation velocity in crosslinked ultrahigh-molecular-weight polyethylene. 61
23165898 2013
42
Characterisation of palm empty fruit bunch (PEFB) and pinewood bio-oils and kinetics of their thermal degradation. 61
22297046 2012
43
How well do predators adjust to climate-mediated shifts in prey distribution? A study on Australian water pythons. 61
21608485 2011
44
The influence of model resolution on ozone in industrial volatile organic compound plumes. 61
20863055 2010
45
Effects of multicurve RGP contact lens use on topographic changes in keratoconus. 61
20714382 2010
46
Kernels for generalized multiple-instance learning. 61
18988944 2008
47
Transport and percolation theory in weighted networks. 61
17500947 2007
48
Candiduria in critically ill patients: an early candidemia marker when coupled with multiple blood specimens PCR assays? 61
17523273 2007
49
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
50
Flap thickness accuracy: comparison of 6 microkeratome models. 61
15130631 2004

Variations for Interstitial Nephritis, Karyomegalic

ClinVar genetic disease variations for Interstitial Nephritis, Karyomegalic:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAN1 , MTMR10 NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter) SNV Pathogenic 37094 rs953653119 GRCh37: 15:31214505-31214505
GRCh38: 15:30922302-30922302
2 FAN1 NM_014967.5(FAN1):c.1234+2T>A SNV Pathogenic 37095 rs767435461 GRCh37: 15:31198102-31198102
GRCh38: 15:30905899-30905899
3 FAN1 , MTMR10 NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) SNV Pathogenic 37097 rs387907279 GRCh37: 15:31217402-31217402
GRCh38: 15:30925199-30925199
4 FAN1 NM_014967.5(FAN1):c.1375+1G>A SNV Pathogenic 37099 rs1305708707 GRCh37: 15:31200462-31200462
GRCh38: 15:30908259-30908259
5 FAN1 , MTMR10 NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) Deletion Pathogenic 37100 rs765970053 GRCh37: 15:31221587-31221588
GRCh38: 15:30929384-30929385
6 FAN1 , MTMR10 NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg) SNV Pathogenic 37101 rs387907280 GRCh37: 15:31222767-31222767
GRCh38: 15:30930564-30930564
7 FAN1 NM_014967.5(FAN1):c.1102C>T (p.Gln368Ter) SNV Pathogenic 437428 rs778075842 GRCh37: 15:31197968-31197968
GRCh38: 15:30905765-30905765
8 FAN1 , MTMR10 NM_014967.5(FAN1):c.2034_2035GA[1] (p.Arg679fs) Microsatellite Pathogenic 37096 rs1566921085 GRCh37: 15:31212837-31212838
GRCh38: 15:30920634-30920635
9 FAN1 , MTMR10 NM_014967.5(FAN1):c.2616del (p.Asp873fs) Deletion Pathogenic 437429 rs750056424 GRCh37: 15:31221429-31221429
GRCh38: 15:30929226-30929226
10 FAN1 NM_014967.5(FAN1):c.256_257del (p.Met86fs) Deletion Pathogenic 973638 GRCh37: 15:31197121-31197122
GRCh38: 15:30904918-30904919
11 FAN1 NM_014967.5(FAN1):c.1606C>T (p.Arg536Ter) SNV Pathogenic 997671 GRCh37: 15:31206089-31206089
GRCh38: 15:30913886-30913886
12 FAN1 , MTMR10 NM_014967.5(FAN1):c.2725C>T (p.Gln909Ter) SNV Pathogenic 1027915 GRCh37: 15:31221538-31221538
GRCh38: 15:30929335-30929335
13 FAN1 , MTMR10 NM_014967.5(FAN1):c.2172+1G>C SNV Pathogenic 1033720 GRCh37: 15:31214558-31214558
GRCh38: 15:30922355-30922355
14 FAN1 NM_014967.5(FAN1):c.922_923del (p.Val308fs) Deletion Pathogenic 421580 rs774499986 GRCh37: 15:31197787-31197788
GRCh38: 15:30905584-30905585
15 FAN1 , MTMR10 NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter) SNV Likely pathogenic 975079 GRCh37: 15:31214471-31214471
GRCh38: 15:30922268-30922268
16 FAN1 NM_014967.5(FAN1):c.1090A>C (p.Asn364His) SNV Uncertain significance 373299 rs187082481 GRCh37: 15:31197956-31197956
GRCh38: 15:30905753-30905753
17 FAN1 , MTMR10 NM_014967.5(FAN1):c.*260_*262del Deletion Uncertain significance 1033719 GRCh37: 15:31234023-31234025
GRCh38: 15:30941820-30941822
18 FAN1 NM_014967.5(FAN1):c.1520G>A (p.Arg507His) SNV Uncertain significance 619975 rs150393409 GRCh37: 15:31202961-31202961
GRCh38: 15:30910758-30910758

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

72
# 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 nucleus GO:0005634 10.07 SLX4 SLX1B SLX1A NDUFAF3 MUS81 LCOR
2 nucleoplasm GO:0005654 9.9 SLX4 SLX1B SLX1A MUS81 LCOR FANCI
3 Holliday junction resolvase complex GO:0048476 8.96 SLX4 MUS81
4 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 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 SLX4 SLX1B SLX1A MUS81 FANCI FANCD2
2 DNA recombination GO:0006310 9.81 SLX4 SLX1B SLX1A MUS81
3 double-strand break repair via homologous recombination GO:0000724 9.8 SLX4 SLX1B SLX1A FAN1
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.73 SLX1B SLX1A MUS81 FAN1 DCLRE1B DCLRE1A
5 t-circle formation GO:0090656 9.65 SLX4 SLX1B SLX1A
6 DNA repair GO:0006281 9.65 SLX4 SLX1B SLX1A MUS81 FANCI FANCD2
7 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.63 SLX4 SLX1B SLX1A
8 telomeric D-loop disassembly GO:0061820 9.61 SLX4 SLX1B SLX1A
9 telomere maintenance via telomere lengthening GO:0010833 9.58 SLX1B SLX1A DCLRE1B
10 resolution of meiotic recombination intermediates GO:0000712 9.57 SLX4 MUS81
11 intra-S DNA damage checkpoint GO:0031573 9.56 MUS81 FANCD2
12 protein insertion into membrane GO:0051205 9.55 RTP2 RTP1
13 protection from non-homologous end joining at telomere GO:0031848 9.54 DCLRE1B DCLRE1A
14 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.54 SLX4 SLX1B SLX1A
15 response to intra-S DNA damage checkpoint signaling GO:0072429 9.52 SLX4 MUS81
16 positive regulation of t-circle formation GO:1904431 9.5 SLX4 SLX1B SLX1A
17 interstrand cross-link repair GO:0036297 9.32 SLX4 SLX1B SLX1A MUS81 FANCI FANCD2

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

# Name GO ID Score Top Affiliating Genes
1 endonuclease activity GO:0004519 9.56 SLX1B SLX1A MUS81 FAN1
2 nuclease activity GO:0004518 9.55 SLX1B SLX1A MUS81 FAN1 DCLRE1B
3 DNA polymerase binding GO:0070182 9.48 FANCI FANCD2
4 5'-3' exonuclease activity GO:0008409 9.46 FAN1 DCLRE1B
5 ubiquitin-dependent protein binding GO:0140036 9.43 FAN1 FAAP20
6 olfactory receptor binding GO:0031849 9.4 RTP2 RTP1
7 5'-3' exodeoxyribonuclease activity GO:0035312 9.37 DCLRE1B DCLRE1A
8 3'-flap endonuclease activity GO:0048257 9.32 SLX4 MUS81
9 crossover junction endodeoxyribonuclease activity GO:0008821 9.13 SLX4 SLX1B SLX1A
10 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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