INTERSTITIAL NEPHRITIS, KARYOMEGALIC

General Information (adopted from Orphanet):

Synonyms, Signs: KMIN
Number of Symptoms 21
OrphanetNr:
OMIM Id: 614817
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002907) Microscopic hematuria 27 / 7739
2
(HPO:0000790) Hematuria rare [HPO:skoehler] 106 / 7739
3
(HPO:0003076) Glycosuria 32 / 7739
4
(HPO:0000093) Proteinuria 169 / 7739
5
(HPO:0000090) Nephronophthisis 42 / 7739
6
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
7
(HPO:0001970) Tubulointerstitial nephritis 27 / 7739
8
(HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
9
(HPO:0003259) Elevated serum creatinine 31 / 7739
10
(OMIM) Large nuclei (karyomegaly) in renal tubules seen renal biopsy 1 / 7739
11
(OMIM) Karyomegaly may be found in other visceral organs 1 / 7739
12
(OMIM) Atrophic tubules 1 / 7739
13
(HPO:0003676) Progressive disorder 148 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Atrophic kidneys 2 / 7739
16
(OMIM) Hyperchromatic nuclei 2 / 7739
17
(OMIM) Glomerular sclerosis 1 / 7739
18
(OMIM) Interstitial fibrosis 24 / 7739
19
(OMIM) Chronic inflammatory infiltrate, mild 1 / 7739
20
(OMIM) Cystic dilation of tubules (in some patients) 1 / 7739
21
(OMIM) Increased BUN 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Spoendlin et al. (1995) reported 3 unrelated adult patients who presented with asymptomatic slowly progressive renal dysfunction identified by routine laboratory investigation. Two patients had proteinuria, and 1 had hypertension. All had a history of recurrent infections earlier ...
Molecular genetics OMIM In affected members of 9 unrelated families with karyomegalic interstitial nephritis, Zhou et al. (2012) identified 12 different homozygous or compound heterozygous mutations in the FAN1 gene (see, e.g., 613534.0001-613534.0008). Eight of the 12 mutations resulted in a ...