Details of Disease

General Information of Disease (ID: DISAFXMQ)

Disease Name Renal tubule disorder
Synonyms disease of renal tubule; renal tubule disease or disorder; renal tubule disease; disorder of renal tubule; renal tubular disorder; disease or disorder of renal tubule; renal tubular disease
Definition A disease that involves the renal tubule.
Disease Hierarchy
DISWD40R: Disease
DISXWP4P: Nephropathy
DISAFXMQ: Renal tubule disorder
Disease Identifiers
MONDO ID
MONDO_0021568
UMLS CUI
C0151747
MedGen ID
57484
HPO ID
HP:0000124
Orphanet ID
93603
SNOMED CT ID
95568003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC12A3 TTP362L Disputed Genetic Variation [1]
CTNS TT1W2ZS Strong Genetic Variation [2]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC10 DTPS120 Strong Genetic Variation [3]
SLC2A2 DTUJPOL Strong Biomarker [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN5 OT9YXZSO Limited Genetic Variation [5]
HAVCR1 OT184CRZ Limited Biomarker [6]
ACKR2 OTWYY14H Strong Biomarker [7]
FAH OTGZA1YR Strong Biomarker [8]
SCN7A OTK05PXY Strong Biomarker [9]
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References

1 Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.Int Urol Nephrol. 2018 Jan;50(1):91-96. doi: 10.1007/s11255-017-1653-4. Epub 2017 Jul 25.
2 A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats.Mamm Genome. 2019 Feb;30(1-2):23-33. doi: 10.1007/s00335-018-9790-3. Epub 2018 Dec 27.
3 Tenofovir-induced renal tubular dysfunction in vertically HIV-infected patients associated with polymorphisms in ABCC2, ABCC4 and ABCC10 genes.Pediatr Infect Dis J. 2013 Oct;32(10):e403-5. doi: 10.1097/INF.0b013e31829e6c9c.
4 Fanconi-Bickel syndrome - mutation in SLC2A2 gene.Indian J Pediatr. 2014 Nov;81(11):1237-9. doi: 10.1007/s12098-014-1487-3. Epub 2014 Jun 10.
5 Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).J Clin Invest. 1997 Mar 1;99(5):967-74. doi: 10.1172/JCI119262.
6 Kidney injury molecule-1 expression predicts structural damage and outcome in histological acute tubular injury.Ren Fail. 2019 Nov;41(1):80-87. doi: 10.1080/0886022X.2019.1578234.
7 The Atypical Chemokine Receptor 2 Limits Progressive Fibrosis after Acute Ischemic Kidney Injury.Am J Pathol. 2019 Feb;189(2):231-247. doi: 10.1016/j.ajpath.2018.09.016. Epub 2018 Nov 16.
8 Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558.
9 Assessment and prediction of acute kidney injury in patients with decompensated cirrhosis with serum cystatin C and urine N-acetyl--D-glucosaminidase.J Gastroenterol Hepatol. 2019 Jan;34(1):234-240. doi: 10.1111/jgh.14387. Epub 2018 Aug 21.