Details of Disease

General Information of Disease (ID: DISBGF8S)

Disease Name Renal tubular transport disease
Synonyms
kidney tubular transport, inborn errors; renal tubular transport errors; renal tubular transport, inborn error; kidney tubular transport, inborn error; disorder of renal absorption; inborn renal tubular transport disorder; renal absorption disease
Definition Genetic defects in the selective or non-selective transport functions of the kidney tubules.
Disease Hierarchy
DISWD40R: Disease
DISXWP4P: Nephropathy
DISBGF8S: Renal tubular transport disease
Disease Identifiers
MONDO ID
MONDO_0006510
MESH ID
D015499
UMLS CUI
C0035091
MedGen ID
19728

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN5 OT9YXZSO moderate Biomarker [1]
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References

1 Detection of ClC-3 and ClC-5 in epididymal epithelium: immunofluorescence and RT-PCR after LCM.Am J Physiol Cell Physiol. 2003 Jan;284(1):C220-32. doi: 10.1152/ajpcell.00374.2001.