Interstitial Nephritis, Karyomegalic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the genitourinary system

Renal tubulo-interstitial diseases

Chronic tubulo-interstitial nephritis

Other chronic tubulo-interstitial nephritis

Orphanet: ⁵⁹

Rare renal diseases

External Ids:

OMIM ⁵⁷ 614817

Disease Ontology ¹² DOID:0060911

ICD10 ³³ N11.8

Orphanet ⁵⁹ ORPHA401996

ICD10 via Orphanet ³⁴ N11.8

MedGen ⁴² C3553774 CN143720

MeSH ⁴⁴ D009395

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 29738008 more

UMLS ⁷³ C3553774

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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)

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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

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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

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Drugs & Therapeutics for Interstitial Nephritis, Karyomegalic

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

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Genetic Tests for Interstitial Nephritis, Karyomegalic

Genetic tests related to Interstitial Nephritis, Karyomegalic:

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

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Anatomical Context for Interstitial Nephritis, Karyomegalic

MalaCards organs/tissues related to Interstitial Nephritis, Karyomegalic:

⁴¹

Kidney, Liver, Testes

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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 )	Isnard P....Zaidan M.	2016
2	Karyomegalic interstitial nephritis. ( 28509177 )	Bennani Guebessi N....Karkouri M.	2016
3	A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. ( 27026368 )	Airik R....Hildebrandt F.	2016
4	Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice. ( 26980188 )	Lachaud C....Rouse J.	2016
5	Karyomegalic Interstitial Nephritis with Chronic Kidney Disease. ( 26625552 )	Nakhoul F....Farber E.	2015
6	Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association. ( 24701046 )	Radha S....Rao B.S.	2014
7	Improvement in karyomegalic interstitial nephritis three years after ifosfamide and cisplatin therapy by corticosteroid. ( 28509207 )	Matsuura T....Itoh H.	2014
8	An uncommon presentation of an uncommon nephropathy: the karyomegalic interstitial nephritis. ( 23553526 )	Lucisano G....Fuiano G.	2013
9	Karyomegalic interstitial nephritis. ( 23831142 )	Zschiedrich S....Wiech T.	2013
10	FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. ( 22772369 )	Zhou W....Hildebrandt F.	2012
11	Genetics: FAN1 mutations result in defective DNA damage repair and karyomegalic interstitial nephritis. ( 22825664 )	Allison S.J.	2012
12	Karyomegalic interstitial nephritis: a pitfall in urine cytology. ( 17304531 )	Palmer D....Tompson K.	2007
13	Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. ( 16724656 )	Monga G....Mazzucco G.	2006
14	Karyomegalic interstitial nephritis. ( 8546134 )	Godin M....Fillastre J.P.	1996
15	Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect. ( 7847351 )	Spoendlin M....Thiel G.	1995

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Genes for Interstitial Nephritis, Karyomegalic

Genes related to Interstitial Nephritis, Karyomegalic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FAN1	FANCD2 And FANCI Associated Nuclease 1	Protein Coding	1678.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17304531 22772369 8546134 (more) 16678356 7847351 20621605
2	MTMR10	Myotubularin Related Protein 10	Protein Coding	8.54	GeneCards inferred via : Variants (show sections)

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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

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Expression for Interstitial Nephritis, Karyomegalic

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

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Pathways for Interstitial Nephritis, Karyomegalic

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GO Terms for Interstitial Nephritis, Karyomegalic

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